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Sample records for hirsutism

  1. Hirsutism.

    PubMed

    Mofid, A; Seyyed Alinaghi, S A; Zandieh, S; Yazdani, T

    2008-03-01

    Hirsutism is defined as the excessive growth of terminal hair on the face and body of a female in a typical male pattern distribution. Hirsutism is a common clinical problem in women and the treatment depends on the cause of hirsutism. Untreated hirsutism can be associated with considerable loss of self-esteem and psychological morbidity. Hyperandrogenemia is the key trigger for excess hair growth. Polycystic ovary syndrome and idiopathic hirsutism are the most common cause of hirsutism. As with all medical problems, investigation begins with a careful history, examination and then investigation directed at the possible cause. A raised serum testosterone level of > 150 ng/dl (5.2 nmol/l) should prompt further investigations to exclude an underlying androgen-secreting tumour. The treatment of hirsutism is most effective using combination therapy, including lifestyle therapies, androgen suppression, peripheral androgen blockage and cosmetic treatments. Women should be warned not to expect improvement or at least 3-6 months after therapy is begun and lifelong therapy may be needed to prevent recurrence. The current review discusses definition, pathogenesis, differential diagnosis, diagnostic strategies, management, guidelines and the authors' recommendations about hirsutism. PMID:18081798

  2. Acne in hirsute women

    PubMed Central

    Pupovci, Hatixhe Latifi; Berisha, Violeta Lokaj; Goçi, Aferdita Uka; Gerqari, Antigona

    2014-01-01

    Introduction Acne and hirsutism are common manifestations of hyperandrogenism. Aim To investigate whether or not acne is present in women with hirsutism, associated with different clinical, endocrine and ultrasonographic features. Material and methods The prospective study included 135 women with hirsutism, aged 14–46 years. We measured the levels of hormones with radioimmunoassay/immunoradiometric assay methods. Results Acne were present in 63 (47.6%) women with hirsutism. Sixty women had mild forms of acne, including: whiteheads, blackheads, papules and pustules. Only 3 women had moderate to severe acne, including nodules. In a group of women with hirsutism and acne, 6 (9.5%) were obese. In our study we found a high prevalence of androgen excess among hirsute women with acne: total testosterone was increased in 79%, free testosterone in 20.6%, androstenedione in 69.8%, dehydroepiandrosterone sulfate (DHEAS) in 30.1%, 17-OH-progesterone 68.2% and sex hormone-binding globulin (SHBG) was decreased in 33.3% of women. Women with hirsutism and acne have received oral contraceptives for a year, without or in a combination with other medication. Thirty-four (53.9%) women have shown improvement in hirsutism and acne. Conclusions In this study we found a high prevalence of acne in hirsute women. The prevalence of acne was higher in polycystic ovarian syndrome. Since these women have associated endocrine changes it is important to correct them with hormonal therapy. PMID:25610349

  3. Management of hirsutism

    PubMed Central

    Agrawal, N. K.

    2013-01-01

    Although hirsutism is a frequent and distressing disorder often signaling an underlying endocrine disorder, a systematic approach to evaluation and the use of combination therapy will provide satisfactory treatment for most patients. PMID:24251227

  4. Hirsutism: diagnosis and treatment.

    PubMed

    Hohl, Alexandre; Ronsoni, Marcelo Fernando; Oliveira, Mônica de

    2014-03-01

    Hirsutism is defined as excessive terminal hair growth in androgen-dependent areas of the body in women, which grows in a typical male distribution pattern. Hirsutism is a common clinical problem in women, and the treatment depends on the cause. The condition is often associated with a loss of self-esteem. Hirsutism reflects the interaction between circulating androgen concentrations, local androgen concentrations, and the sensitivity of the hair follicle to androgens. Polycystic ovary syndrome and idiopathic hirsutism are the most common causes of the condition. A woman's history and, physical examination are particularly important in evaluating excess hair growth. The vast majority of women with hirsutism have the idiopathic variety, and the diagnosis is made by exclusion. Serum testosterone level>200 ng/dL is highly suggestive of adrenal or ovarian tumor. Treatment of hirsutism should be based on the degree of excess hair growth presented by the patient and in the pathophysiology of the disorder. Treatment includes lifestyle therapies, androgen suppression, peripheral androgen blockage, and cosmetic treatments. The current review discusses definition, pathogenesis, physiopathology, differential diagnosis, diagnostic strategies, and treatment. PMID:24830586

  5. Hirsutism: implications, etiology, and management.

    PubMed

    Hatch, R; Rosenfield, R L; Kim, M H; Tredway, D

    1981-08-01

    Hirsutism usually results from a subtle excess of androgens. As such, it is a clue to possible endocrine disturbance in addition to presenting cosmetic problems. We use the term hirsutism to mean male-pattern hirsutism--excessive growth of hair in areas where female subjects normally have considerably less than male subjects. An elevation of the plasma free (unbound) testosterone level is the single most consistent endocrinologic finding in hirsutism. The plasma free testosterone level is sometimes elevated when the total level of plasma testosterone is normal because testosterone-estradiol--binding globulin (TEBG) levels are often depressed in hirsute women. Frequent blood sampling is sometimes necessary to demonstrate subtle hyperandrogenic states since androgen levels in the blood are pulsatile and seemingly reflect episodic ovarian and adrenal secretion. The source of hyperandrogenemia can usually be determined from dexamethasone suppression testing. Those patients whose plasma free androgen levels do not suppress normally usually have functional ovarian hyperandrogenism (polycystic ovary syndrome variants). Very high plasma androgen levels or evidence of hypercortisolism, which is not normally suppressible by dexamethasone, should lead to the search for a tumor or Cushing's syndrome. Those patients in whom hyperandrogenemia is suppressed normally by dexamethasone have a form of the adrenogenital syndrome, a prolactinoma, obesity, or idiopathic hyperandrogenemia. In such patients, glucocorticoid therapy may reduce hirsutism and acne and normalize menses. The treatment of hirsutism resulting from functional ovarian hyperandrogenism is not as satisfactory; estrogen-progestin treatment is the most useful adjunct to cosmetic approaches to hirsutism in this country. However, other manifestations of polycystic ovary syndrome, such as infertility, may take precedence over hirsutism when an optimal therapeutic program is designed for many patients. PMID:7258262

  6. Hirsutism and Polycystic Ovarian Syndrome

    MedlinePlus

    ... it does not change back. Androgens increase sebum production, which results in oily skin and acne. Excess ... below: 5 Table 2. Causes of hirsutism • Excessive production of androgens by the ovaries (polycystic ovary syndrome, ...

  7. Hirsutism

    MedlinePlus

    ... product according to the directions on the label. Bleaching products may irritate your skin. Tweezing and waxing are effective ways of removing unwanted hair. Tweezing is good for removing small stray hairs ...

  8. Hirsutism and acne in polycystic ovary syndrome.

    PubMed

    Archer, Johanna S; Chang, R Jeffrey

    2004-10-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine abnormality affecting reproductive age women. Population-based studies estimate a prevalence of 5-10% [Obstet Gynecol 101 (2003) 995; Aust N Z J Obstet Gynaecol 41 (2001) 202]. The clinical characteristics of PCOS include hyperandrogenism, chronic anovulation, insulin resistance and infertility. Hyperandrogenism is generally manifested as hirsutism and acne. Both these clinical symptoms are treated with similar drug therapies, including oral contraceptive pills (OCPs), topical medications or antiandrogens such as spironolactone, flutamide and finasteride, as well as topical medications. Recent studies have shown that lower doses of these medications are as efficacious as high doses and have the advantage of decreased cost and an improved side-effect profile. Although hirsutism and acne can be considered cosmetic in nature, they cause significant social embarrassment and emotional distress. Physicians should be sensitive to these issues and approach patients in a caring and sympathetic manner. PMID:15380144

  9. Issues Faced by Women With Hirsutism: State of the Science.

    PubMed

    Pate, Courtney

    2016-06-01

    It has been well established in the literature that the presence of hirsutism not only diminishes quality of life for women but also has a psychological impact. This review will present quantitative findings, including the measurements used in various studies, as well as qualitative research pertaining to the issues faced by women with hirsutism and offer recommendations for further research and implications for practice. Research is sparse in the realm of studying women who have hirsute appearances but do not suffer from polycystic ovarian syndrome. Future quality of life research does not need to necessarily exclude women with polycystic ovarian syndrome, but it does need to include women who suffer from idiopathic hirsutism. Further qualitative inquiry is also warranted. PMID:26404653

  10. Hyperprolactinemia and Hirsutism in Patients Without Polycystic Ovary Syndrome

    PubMed Central

    Tirgar-Tabari, Soudabeh; Sharbatdaran, Majid; Manafi-Afkham, Sara; Montazeri, Mohammad

    2016-01-01

    Background: Hirsutism is one of the most important diseases that lead women to refer to dermatology clinic. Hyperprolactinemia is one of the causes of hirsutism. The aim of this study was to determine prolactin (PRL) levels in hirsute women. Materials and Methods: In this cross-sectional study, hirsute patients were evaluated. For all of the patients, 2 or 3 days after mense starting, hormone level tests were performed, and 200 patients that had not polycystic ovary syndrome enrolled to the study. A questionnaire of history and physical examination were performed. Data have been analyzed with SPSS version 21. Results: Hyperprolactinemia were seen in 25 patients (12.5%). There was no significant relation between marital statuses, galactorrhoea, positive family history, and infertility with hyperprolactinemia. But significant relation was seen between irregular mense and hyperprolactinemia. Conclusion: Although hyperprolactinemia is the rare cause of hirsutism, the prevalence of hyperprolactinemia was high in our study. Thus, PRL level in hirsute patients should be evaluate. PMID:27625565

  11. Hormonal correlates of acne and hirsutism.

    PubMed

    Lucky, A W

    1995-01-16

    Acne is a multifactorial disorder reflecting the role of infection, abnormal keratinization and immunologic reaction, as well as hormonal influences, on the pilosebaceous unit. Clinical studies have correlated elevated levels of androgens, originating in both the adrenal glands and ovaries, with acne. These include total and free testosterone, delta 4-androstenedione, dehydroepiandrosterone and its sulfate, and low levels of sex hormone binding globulin. The pathogenesis of acne initiation in childhood has been linked to rising serum levels of dehydroepiandrosterone sulfate. Hirsutism has been more directly correlated with increased levels of serum androgens, notably free testosterone. Underlying causes of elevated androgens in both disorders include very rare tumors, partial or late-onset forms of congenital adrenal hyperplasia, developmental adrenal abnormalities and, most commonly, polycystic ovary syndrome. Early acne treatment may include topical benzoyl peroxide, antibiotics, and tretinoin. More severe disease can be treated systemically (with antibiotics and/or isotretinoin). Very-low-dose corticosteroids can be used to eliminate the adrenal component of hyperandrogenism. Oral contraceptives, especially those that contain low-androgenic progestins, can reduce excessive androgens from any source and specifically suppress the ovary in polycystic ovary syndrome. Gonadotropin-releasing hormone agonists, with or without estrogen supplementation, and systemic or topical antiandrogens may play a more important role in the future. PMID:7825645

  12. Complementary Therapies for Idiopathic Hirsutism: Topical Licorice as Promising Option.

    PubMed

    Faghihi, Gita; Iraji, Fariba; Abtahi-Naeini, Bahareh; Saffar, Bahar; Saffaei, Ali; Pourazizi, Mohsen; Aslani, Abolfazl; Nilforoushzadeh, Mohammad Ali

    2015-01-01

    Hirsutism is one of the most prevalent health problems in women. The aim of the study was to compare the effect of 755 nm alexandrite hair removal laser with that of alexandrite laser plus topical licorice on the improvement of idiopathic hirsutism. A double-blind, randomized placebo-controlled study was performed on 90 female subjects. The patients were divided into two groups: alexandrite laser plus 15% licorice gel (group A) and placebo (group B). Each subject received one of both products over one side of the face, twice daily for 24 weeks on the hirsute locations. Each group underwent five sessions of alexandrite laser at 6-week intervals. To minimize the effects of confounding variables, the test was performed on two separate zones of patients' skin. The mean ± SD numbers of terminal hairs in group A were 7.05 ± 4.55 for zone 1 and 6.06 ± 3.70 for zone 2. In group B, they were 3.18 ± 1.75 for zone 1 and 2.49 ± 1.63 for zone 2. The difference in the mean number of terminal hairs was statistically significant between the two groups (p < 0.001), and there were no serious adverse reactions. The treatment of idiopathic hirsutism with 755 nm alexandrite laser plus topical licorice is more effective than alexandrite laser only. PMID:26273313

  13. Idiopathic hirsutism: excessive bodily and facial hair in women.

    PubMed

    Elghblawi, Ebtisam

    Hirsutism is the excessive and increased bodily and facial hair growth in women in locations where hair is normally minimal or absent. It refers to the growth of hair in a pattern normally occurring only in men, and therefore primarily raises psychological, cosmetic and social concerns. Idiopathic hirsutism (IH), where the cause of excessive hair growth is unknown, is considered to be the most common form of hirsutism. It is suspected that this type of hirsutism may be familial, as there is often a family history of the condition. Women with IH will generally have normal menses and normal levels of testosterone. There are many treatment modalities that fall into two broad groups: medical and mechanical treatment. An example of a medical treatment is when an agent is used, which interferes with the synthesis of androgen at the ovarian or adrenal level, or by inhibiting the effect of androgen at the receptor level. An example of a mechanical treatment is laser hair removal, where the hair follicle is destroyed; however, much depends on the on the skill of the treating practitioner, laser type, laser spot size, skin type, hair colour, and the stage at which the hair follicles were during their hair growth cycle, and the delivered wavelength. Laser offers the fastest method of hair loss. Other mechanical treatments include electrolysis, depilatory creams, plucking and waxing. This article presents a general overview of IH, including a definition, diagnostic measures, clinical manifestations, normal and abnormal physiology, and treatment options. PMID:18414261

  14. Complementary Therapies for Idiopathic Hirsutism: Topical Licorice as Promising Option

    PubMed Central

    Faghihi, Gita; Iraji, Fariba; Abtahi-Naeini, Bahareh; Saffar, Bahar; Saffaei, Ali; Pourazizi, Mohsen; Aslani, Abolfazl; Nilforoushzadeh, Mohammad Ali

    2015-01-01

    Hirsutism is one of the most prevalent health problems in women. The aim of the study was to compare the effect of 755 nm alexandrite hair removal laser with that of alexandrite laser plus topical licorice on the improvement of idiopathic hirsutism. A double-blind, randomized placebo-controlled study was performed on 90 female subjects. The patients were divided into two groups: alexandrite laser plus 15% licorice gel (group A) and placebo (group B). Each subject received one of both products over one side of the face, twice daily for 24 weeks on the hirsute locations. Each group underwent five sessions of alexandrite laser at 6-week intervals. To minimize the effects of confounding variables, the test was performed on two separate zones of patients' skin. The mean ± SD numbers of terminal hairs in group A were 7.05 ± 4.55 for zone 1 and 6.06 ± 3.70 for zone 2. In group B, they were 3.18 ± 1.75 for zone 1 and 2.49 ± 1.63 for zone 2. The difference in the mean number of terminal hairs was statistically significant between the two groups (p < 0.001), and there were no serious adverse reactions. The treatment of idiopathic hirsutism with 755 nm alexandrite laser plus topical licorice is more effective than alexandrite laser only. PMID:26273313

  15. Increased 5. cap alpha. -reductase activity in idiopathic hirsutism

    SciTech Connect

    Serafini, P.; Lobo, R.A.

    1985-01-01

    In vitro, genital skin 5..cap alpha..-reductase activity (5..cap alpha..-RA) was measured in ten hirsute women with normal androgen levels (idiopathic hirsutism (IH)) and in ten hirsute women with elevated androgen levels (polycystic ovary syndrome (PCO)) in order to determine the influence of secreted androgens on 5..cap alpha..-RA. In vitro 5..cap alpha..-RA was assessed by incubations of skin with /sup 14/C-testosterone (T) for 2 hours, after which steroids were separated and the radioactivity of dihydrotestosterone (DHT) and 5..cap alpha..-androstane 3..cap alpha..-17..beta..-estradiol (3..cap alpha..-diol) in specific eluates were determined. All androgens were normal in IH with the exception of higher levels of 3..cap alpha..-diol glucuronide which were similar to the levels of PCO. The conversion ratio (CR) of T to DHT in IH and PCO were similar, yet significantly greater than the CR of control subjects. The CR of T to 3..cap alpha..-diol in IH and PCO were similar, yet higher than in control subjects. Serum androgens showed no correlation with 5..cap alpha..-RA, while the CR of T to DHT showed a significant positive correlation with the Ferriman and Gallwey score. The increased 5..cap alpha..-RA in IH appears to be independent of serum androgen levels and is, therefore, an inherent abnormality. The term idiopathic is a misnomer, because hirsutism in these patients may be explained on the basis of increased skin 5..cap alpha..-RA.

  16. Mixed Form of Hirsutism in an Adolescent Female and Laser Therapy

    PubMed Central

    Gacaferri Lumezi, Besa; Goci, Aferdita; Lokaj, Violeta; Latifi, Hatixhe; Karahoda, Natyra; Minci, Ganimete; Telaku, Drita; Gercari, Antigona; Kocinaj, Allma

    2014-01-01

    Introduction: Hirsutism is a common disorder of excess growth of terminal hair in an androgen-dependent male distribution in women, including the chin, upper lip, breasts, back, and abdomen. It is very important to identify the etiology of hirsutism and adequate treat is prior to any cosmetic therapy. Case Presentation: The case was a 17-year-old female with severe hirsutism, oligomenorrhea, and obesity. She was evaluated to identify the etiology and diagnosed as a case of polycystic ovarian syndrome (PCOS), nonclassic congenital adrenal hyperplasia (NC-CAH), and hyperandrogenic insulin-resistant acanthosis nigricans (HAIR-AN) syndrome, which is a rare combination of hirsutism etiology. She was successfully treated according to the underlying pathology, and laser photoepilation was used as the preferred hair removal method. Discussion: Establishing the etiology, using the evidence–based strategies to improve hirsutism, and treating the underlying disorder, are essential for proper management of women with hirsutism. PMID:25068069

  17. Hirsutism following the use of bimatoprost eyedrops for glaucoma

    PubMed Central

    Kaliaperumal, Subashini; Govindaraj, Indu; Kopparapu, Praveen Kumar; Ahuja, Shashi

    2014-01-01

    Prostaglandin F2 alpha (PGF2α) analogues including bimatoprost are often the first line drugs used in the treatment of glaucoma. We present a case of a 62-year-old female patient who was started on bimatoprost in both the eyes for primary open angle glaucoma. The intraocular pressures reached the target level but she developed hair growth over the chin and upper lip after six months of commencing of the treatment. The regional hypertrichosis did not reduce much after stopping the drug. Hirsutism is a potential side effect of prostaglandin analogues which has rarely been reported. Doctors and patients need to be aware of this noticeable and unwanted side effect. The effect seems to occur in patients already having few non-vellus hairs in these areas. PMID:25210403

  18. Preparation and clinical evaluation of Finastride gel in the treatment of idiopathic Hirsutism

    PubMed Central

    Tahvilian, Reza; Ebrahimi, Ali; Beiki, Omid; Nemati, Hoshang; Masoud, Sahar

    2015-01-01

    Objective Hirsutism is the presence of excess terminal hairs in females in a male-like pattern. The most accepted hypothesis for the development of hirsutism is increased 5α-reductase activity in hair follicles of hirsute women. Finasteride partially blocks the conversion of testosterone to dihydrotestosterone through inhibition of 5α-reductase in hair follicles. This study was designed to determine the efficacy of finasteride gel 0.25% in management of idiopathic hirsutism and treatment of hirsutism with topical finasteride to lessen the side-effects. Methods Women after puberty that have idiopathic hirsutism criteria are divided randomly in two groups; treatment and control. The number of patients in each group is 15 and received finasteride and placebo gel once a day on their skins. The patients were visited every month by a dermatologist and the amount of response to the treatment and the patient satisfaction was recorded. Ferriman–Gallwey score of the treated area was determined. Results After 6-months, mean thickness hairs in treating group were decreased from 102.00 ± 9.58 µm to 86.4 ± 11.4 µm (p < 0.05), this difference was statistically significant. Gel application did not indicate any type of side-effects. Limitations Inclusion and exclusion criteria. Conclusion Finasteride partially blocks 5α-reductase. Because of the good absorption through the skin and good solubility of this medicine, the prepared gel formulation applied on the hirsutism area showed a significant decrease in hair growth locally, so finasteride gel is an efficient and harmless therapy in patients with idiopathic hirsutism.

  19. ACP Broadsheet 131: March 1992. Hirsute women: should they be investigated?

    PubMed Central

    Barth, J. H.

    1992-01-01

    Should hirsute women be investigated? Most only need careful clinical evaluation. First, they need to be examined to determine whether they are hirsute or hypertrichotic, and for the degree of hair growth to assess the most appropriate form of treatment. Second, they need to be clinically evaluated for signs and symptoms of virilism to determine the extent of investigation needed. If virilism is absent laboratory investigation need only be minimal. As most hirsute women will have mild ovarian hyperandrogenism they will only require the appropriate tests for polycystic ovaries, and only those women who are virilised will need intensive investigation. The approach described is considered minimalist by some; but unless a tumour is diagnosed, anti-androgen treatment will only be offered to those with severe hirsutism who want treatment. Anti-androgens will be prescribed because (i) current medical treatment is insufficiently specific to require accurate localisation of the source of excess androgen and (ii) because anti-androgens are more effective at reducing hair growth than hydrocortisone, even in late onset congenital adrenal hyperplasia. PMID:1556225

  20. The prevalence of idiopathic hirsutism and polycystic ovary syndrome in the Tehran Lipid and Glucose Study

    PubMed Central

    2011-01-01

    Background There is no clear and contemporaneous method for screening of idiopathic hirsutism (IH) and polycystic ovary syndrome (PCOS) at the community level and current estimates regarding their prevalence are limited. We aimed to ascertain the prevalence of IH and PCOS in a randomly selected sample of reproductive aged female participants of the Tehran Lipid and Glucose Study (TLGS). Methods One thousand and two women, aged 18-45 years, were randomly selected from among reproductive aged women who participated in the TLGS. Those women with either hirsutism or menstrual dysfunction were assessed for biochemical hyperandrogenemia; whereas those participants with hirsutism per se were further assessed for subclinical menstrual dysfunction. PCOS were diagnosed using the National Institute of Health (NIH) criteria. IH was defined as hirsutism without clinical or sub clinical menstrual dysfunction or biochemical hyperandrogenemia (BH). Results The mean ± SD of age of study population was 29.2 ± 8.7 years. Estimated prevalences of idiopathic hirsutism and pure menstrual dysfunction were 13.0% (95% CI: 10.9%-15.1%) and 1.5%(95% CI: 1.1%-1.9%), respectively. The prevalence of PCOS was 8.5% (95% CI: 6.8% - 10.2%); more than one third of these cases would possibly have remained undiagnosed or misdiagnosed, had we not assessed them for subclinical menstrual dysfunction or biochemical hyperandrogenemia. Conclusions These data from a large representative and non selected population of women confirm the concept that IH and PCOS are the two most common gynecological endocrinopathies among reproductive aged women. The estimated prevalence of these conditions is highly influenced by their screening methods at the community level. PMID:22044512

  1. Severe Facial Hirsutism Following Isotretinoin Therapy: An Under-reported Entity.

    PubMed

    Ramot, Yuval; Sheffer, Sivan; Zlotogorski, Abraham

    2015-01-01

    Hirsutism is usually a manifestation of hyperandrogenism, and iatrogenic causes for excess hair growth are uncommon. Here, we report on a 48-year-old female patient, who developed severe excess facial hair following treatment with isotretinoin for papulopustular rosacea. To the best of our knowledge, only one case has been reported before, and not in the dermatology literature. Taking into consideration the fact that isotretinoin is a widely prescribed medication in the dermatology practice, information on its possible adverse effects is of major importance for the treating dermatologist. PMID:26622158

  2. Severe Facial Hirsutism Following Isotretinoin Therapy: An Under-reported Entity

    PubMed Central

    Ramot, Yuval; Sheffer, Sivan; Zlotogorski, Abraham

    2015-01-01

    Hirsutism is usually a manifestation of hyperandrogenism, and iatrogenic causes for excess hair growth are uncommon. Here, we report on a 48-year-old female patient, who developed severe excess facial hair following treatment with isotretinoin for papulopustular rosacea. To the best of our knowledge, only one case has been reported before, and not in the dermatology literature. Taking into consideration the fact that isotretinoin is a widely prescribed medication in the dermatology practice, information on its possible adverse effects is of major importance for the treating dermatologist. PMID:26622158

  3. Androgen dependence of hirsutism, acne, and alopecia in women: retrospective analysis of 228 patients investigated for hyperandrogenism.

    PubMed

    Karrer-Voegeli, Sandra; Rey, François; Reymond, Marianne J; Meuwly, Jean-Yves; Gaillard, Rolf C; Gomez, Fulgencio

    2009-01-01

    Hirsutism, acne, alopecia, and oligo-amenorrhea are clinical expressions of hyperandrogenism, one of the most frequent endocrine disorders in women of reproductive age. Women referred to our endocrine clinics for skin symptoms of hyperandrogenism underwent a laboratory workup to evaluate hormone measurements and received antiandrogen therapy. We retrospectively analyzed the outcome of 228 consecutive patients investigated over 6 years.Patients with hirsutism had higher levels of androstenedione, dehydroepiandrosterone sulfate (DHEAS), and salivary testosterone; lower levels of sex hormone-binding globulin (SHBG); and a higher prevalence of oligo-amenorrhea than patients with alopecia, while patients with acne showed intermediate values. Hirsutism score correlated positively with androstenedione, DHEAS, and salivary testosterone, and correlated negatively with SHBG; salivary testosterone showed the highest correlation coefficient. Total testosterone was not significantly different among patients with hirsutism, alopecia, or acne, and did not significantly correlate with hirsutism score. Hirsutism and oligo-amenorrhea were the most sensitive symptoms of hyperandrogenism, and no androgenic parameter alone allowed us to identify all cases of hyperandrogenism.Patients of central European origin sought consultation with milder hirsutism scores than patients of southern European origin. There was, however, no difference in the clinical-biological correlation between these groups, arguing against differences in skin sensitivity to androgens.Polycystic ovary syndrome, defined as hyperandrogenism (hirsutism or elevated androgens) and oligo-amenorrhea, was diagnosed in 63 patients (27.6%), an underestimate compared with other reports that include systematic ovarian ultrasound studies. Neither pelvic ultrasound, used in a limited number of cases, nor the luteinizing hormone/follicle-stimulating hormone ratio helped to distinguish patients with polycystic ovary syndrome from

  4. Interventions for hirsutism excluding laser and photoepilation therapy alone: abridged Cochrane systematic review including GRADE assessments.

    PubMed

    van Zuuren, E J; Fedorowicz, Z

    2016-07-01

    Hirsutism is a common disorder with a major impact on quality of life. The most frequent cause is polycystic ovary syndrome. Effects of interventions (except laser and light-based therapies) were evaluated, including Grading of Recommendations Assessment, Development and Evaluation assessments. Searches included Cochrane Skin Group Specialised Register, CENTRAL in The Cochrane Library, Medline, Embase and five trials registers to June 2014. We included 157 randomized controlled trials (RCTs) with 10 550 participants. The majority were assessed as having a 'high risk' of bias (123 of 157). The quality of evidence was rated moderate to very low for most outcomes. Pooled data for an oral contraceptive (OCP) (ethinyl oestradiol and cyproterone acetate) compared with another OCP (ethinyl oestradiol and desogestrel) demonstrated that both treatments were effective in reducing Ferriman-Gallwey scores, but the mean difference (MD) was not statistically significant [-1·84, 95% confidence interval (CI): -3·86-0·18]. Flutamide was more effective than placebo in two studies (MD -7·60, 95% CI: -10·53 to -4·67 and MD -7·20, 95% CI: -10·15 to -4·25), as was spironolactone (MD -7·69, 95% CI: -10·12 to -5·26). Spironolactone appeared to be as effective as flutamide (two studies) and finasteride (two studies). However, finasteride and the gonadotropin-releasing analogues showed discrepant results in several RCTs. Metformin was ineffective. Cyproterone acetate combined with OCPs demonstrated greater reductions in Ferriman-Gallwey scores. Lifestyle interventions reduced body mass index but did not show improvement in hirsutism, and although cosmetic measures are frequently used, no RCTs investigating cosmetic treatments were identified. RCTs investigating OCPs in combination with antiandrogens or finasteride vs. OCP alone, or the different antiandrogens and 5α-reductase inhibitors are warranted. PMID:26892495

  5. Role of hormones and blood lipids in the pathogenesis of acne vulgaris in non-obese, non-hirsute females

    PubMed Central

    Bakry, Ola Ahmed; El Shazly, Rania Mohamed Azmy; El Farargy, Shawky Mahmoud; Kotb, Dalia

    2014-01-01

    Context: Acne vulgaris (AV) is a common disease affecting all ages and ethnic groups. Androgens, skin and serum lipids, inflammatory signaling and regulatory neuropeptides seem to be involved in this multi-factorial process. Aim: The aim of this work was to determine hormonal levels and lipid profile in non-obese, non-hirsute females with AV. Subjects and Methods: A total of 60 non-obese, non-hirsute female cases with different grades of AV and 60 age- and gender-matched healthy volunteers were included. Measurement of serum total and free testosterone, sex hormone binding globulin (SHBG), estradiol and progesterone and blood lipids was done during the luteal phase of the menstrual cycle. Results: Total testosterone, free testosterone (FT) and progesterone levels were significantly higher (P < 0.001 for all) while estradiol levels (P < 0.001) and SHBG (P < 0.01) were significantly lower in cases than controls. Total cholesterol and low density lipoprotein cholesterol (LDL-C) levels were significantly higher (P < 0.001 for both) while high density lipoprotein cholesterol (HDL-C) and apolipoprotein A-1 (ApoA-1) levels were significantly lower (P < 0.001 for both) in cases than controls. Higher values of FT (P = 0.03) and SHBG (P = 0.02) and lower values of estradiol (P = 0.04) levels were significantly in favor of severe acne. Higher values of cholesterol (P < 0.001) and LDL-C (P = 0.03) and lower values of HDL-C (P = 0.01) and ApoA-1 (P = 0.02) levels were significantly associated with severe acne. Conclusion: Changes in hormone levels and lipid profile in non-obese and non-hirsute females with AV should be considered in disease pathogenesis and in treatment prescription of these patients. PMID:25506579

  6. Of PCOS Symptoms, Hirsutism Has the Most Significant Impact on the Quality of Life of Iranian Women

    PubMed Central

    Khomami, Mahnaz Bahri; Tehrani, Fahimeh Ramezani; Hashemi, Somayeh; Farahmand, Maryam; Azizi, Fereidoun

    2015-01-01

    Introduction Polycystic ovary syndrome is a common endocrine disorder affecting women both physically and psychologically and can lead to a poor quality of life compared to their normal counterparts. The aim of the present study was to assess the impact of various clinical features of polycystic ovary syndrome on the health-related quality of life of Iranian women diagnosed with this syndrome. Materials and Methods A total of 796 women diagnosed with polycystic ovary syndrome, aged 15–49 years, completed the questionnaires, interviews, and medical assessments required for this study. A reliable and validated Persian version of the health-related quality of life questionnaire for polycystic ovary syndrome patients was used. Linear regression models were used to assess the association between the symptoms of polycystic ovary syndrome and health-related quality of life. Results The mean age of participants was 28.02 years. 35.4% of the subjects were classified as overweight or obese. Hirsutism, was reported to have the strongest impact on the patients’ health-related quality of life, followed in descending order by body mass index, irregular menses and infertility. The relative level of hirsutism was directly proportional to decrease in health-related quality of life score (p<0.001). Conclusions The results of the study found that hirsutism had the strongest impact on the health-related quality of life measures in Iranian women diagnosed with polycystic ovary syndrome. Health care officials need to evaluate in depth the effect of each clinical feature of polycystic ovary syndrome separately and design management strategies, keeping in mind the psychological and physical manifestations. PMID:25874409

  7. Production of fiberboard using corn stalk pretreated with white-rot fungus Trametes hirsute by hot pressing without adhesive.

    PubMed

    Wu, Jianguo; Zhang, Xin; Wan, Jilin; Ma, Fuying; Tang, Yong; Zhang, Xiaoyu

    2011-12-01

    Corn stalk pretreated with white-rot fungus Trametes hirsute was used to produce fiberboard by hot pressing without adhesive. The moduli of rupture and elasticity of the corn-stalk-based fiberboard were increased 3.40- and 8.87-fold when bio-pretreated rather than untreated corn stalk was used. Fourier transform infra-red spectroscopy, X-ray diffraction, and chemical analysis showed that bio-pretreated corn stalk increased the mechanical properties of the fiberboard because it had more than twice the number of hydroxyl group, an 18% higher crystallinity, and twice the polysaccharide content of untreated corn stalk. Its laccase content was 4.65 ± 0.38 U/g. Corn stalk-based fiberboard production did not require adhesives, thus eliminating a potential source of toxic emissions such as formaldehyde gas. PMID:22014702

  8. The effect of fennel (Foeniculum vulgare) gel 3% in decreasing hair thickness in idiopathic mild to moderate hirsutism, A randomized placebo controlled clinical trial

    PubMed Central

    Akha, Ozra; Rabiei, Khadijeh; Kashi, Zahra; Bahar, Adele; Zaeif-Khorasani, Elham; Kosaryan, Mehrnoush; Saeedi, Majid; Ebrahimzadeh, Mohammad Ali; Emadian, Omid

    2014-01-01

    Background: Hirsutism is a common symptom presenting to primary care endocrinologists, gynecologists, and dermatologists. Management is usually a long and troublesome process. This study was designed to evaluate the effect of fennel topical gel on mild to moderate idiopathic hirsutism. Methods: The randomized, double-blind, placebo-controlled clinical trial was carried out from 2009 to 2011, in Sari, Iran. Forty four women with mild to moderate idiopathic hirsutism were randomly divided to case and control groups, each group included 22 cases. The case group received fennel gel 3% and the control group received placebo. The effect of fennel gel 3% was defined as reduction of thickness of facial hair in micrometer by microscope in comparison with placebo. Measurements were performed at zero time and 24 weeks after treatment. This study was registered in the Iranian Registry of Clinical Trial (www.irct.ir) with registration number 138901213672N1. Results: The mean age of patients was 26.9±6.7 and 25.6±4.3 years in case and control groups, respectively. Hair thickness was similar between the two groups before intervention. The hair thickness reduced from 97.9±31.5 to 75.6±26.7 micron in patients receiving fennel gel after 24 weeks (P<0.001). Four patients complained of itching (3 in case group) and 4 patients complained of irritation and itching (3 in case group). However, this difference was not statistically significant. Conclusion: The study indicated that fennel gel 3% is effective in decreasing hair thickness in women with idiopathic mild to moderate hirsutism. PMID:24490010

  9. Comparative Study of Diode Laser Versus Neodymium-Yttrium Aluminum: Garnet Laser Versus Intense Pulsed Light for the Treatment of Hirsutism

    PubMed Central

    Puri, Neerja

    2015-01-01

    Introduction: Lasers are widely used for the treatment of hirsutism. But the choice of the right laser for the right skin type is very important. Before starting with laser therapy, it is important to assess the skin type, the fluence, the pulse duration and the type of laser to be used. Aims: To compare the efficacy and side effects of Diode laser, Neodymium-yttrium aluminum — garnet (Nd: YAG) laser and intense pulsed light (IPL) on 30 female patients of hirsutism. Materials and Methods: Thirty female patients with hirsutism were selected for a randomised controlled study. The patients were divided into three groups of 10 patients each. In group I patients diode laser was used, in group II patients long pulsed Nd: YAG laser was used and in group III, IPL was used. The patients were evaluated and result graded according to a 4-point scale as excellent, >75% reduction; good, 50-75% reduction; fair; 25-50% reduction; and poor, <25% reduction in hair density. Results: It was seen that the percentage of hair reduction after two sessions of treatment was maximum (40%) in the diode laser group, followed by 35% hair reduction in the Nd: Yag laser group and 10% hair reduction in the IPL group. The percentage of hair reduction after four sessions of treatment was maximum (64%) in the diode laser group, followed by 62% hair reduction in the Nd: Yag laser group and 48% hair reduction in the IPL group. The percentage of hair reduction after eight sessions of treatment was maximum (92%) in the diode laser group, followed by 90% hair reduction in the Nd: YAG group and 70% hair reduction in the IPL group. Conclusions: To conclude for the Indian skin with dark hairs, the diode laser still stands the test of time. But, since the diode laser has a narrow margin of safety, proper pre and post-procedure cooling is recommended. Although, the side effects of Nd: YAG laser are less as compared to the diode laser, it is less efficacious as compared to the diode laser. PMID:26157309

  10. The Swedish version of the multidimensional scale of perceived social support (MSPSS) - a psychometric evaluation study in women with hirsutism and nursing students

    PubMed Central

    2013-01-01

    Background The Multidimensional Scale of Perceived Social Support (MSPSS) is a short instrument, developed to assess perceived social support. The original English version has been widely used. The original scale has demonstrated satisfactory psychometric properties in different settings, but no validated Swedish version has been available. The aim was therefore to translate, adapt and psychometrically evaluate the Multidimensional Scale of Perceived Social Support for use in a Swedish context. Method In total 281 participants accepted to join the study, a main sample of 127 women with hirsutism and a reference sample of 154 nursing students. The MSPSS was translated and culturally adapted according to the rigorous official process approved by WHO. The psychometric evaluation included item analysis, evaluation of factor structure, known-group validity, internal consistency and reproducibility. Results The original three-factor structure was reproduced in the main sample of women with hirsutism. An equivalent factor structure was demonstrated in a cross-validation, based on the reference sample of nursing students. Known-group validity was supported and internal consistency was good for all scales (α = 0.91-0.95). The test-retest showed acceptable to very good reproducibility for the items (κw = 0.58-0.85) and the scales (ICC = 0.89-0.92; CCC = 0.89-0.92). Conclusion The Swedish version of the MSPSS is a multidimensional scale with sound psychometric properties in the present study sample. The simple and short format makes it a useful tool for measuring perceived social support. PMID:24112950

  11. Evaluation and Treatment of Hirsutism in Premenopausal Women

    MedlinePlus

    ... by the U.S. Food and Drug Administration for “permanent hair reduction” (not “permanent hair removal”). The choice of a specific photoepilation ... clinical guidelines suggest also taking medication such as birth control pills to minimize hair regrowth. Electrolysis has been ...

  12. Masculine somatotype and hirsuteness as determinants of sexual attractiveness to women.

    PubMed

    Dixson, Alan F; Halliwell, Gayle; East, Rebecca; Wignarajah, Praveen; Anderson, Matthew J

    2003-02-01

    Five questionnaire studies asked women to rate the attractiveness of outline drawings of male figures that varied in somatotype, body proportions, symmetry, and in distribution of trunk hair. In Study 1, back-posed figures of mesomorphic (muscular) somatotypes were rated as most attractive, followed by average, ectomorphic (slim), and endomorphic (heavily built) figures by both British and Sri Lankan women. In Study 2, computer morphing of somatotypes to produce an intergraded series resulted in a graded response in terms of perceived attractiveness which mirrored the findings of Study 1. In Study 3, back-posed figures were manipulated in order to change waist-to-hip ratios (WHR) and waist-to-shoulder ratios (WSR). A WHR of 0.8-0.9 and a WSR of 0.6 were rated as most attractive and these effects were more pronounced when modeling mesomorphic figures. In Study 4, symmetric figures of a mesomorphic somatotype were rated as less attractive than a normal (asymmetric) version of the same man. Study 5 showed that presence of trunk hair had a marked, positive effect upon women's ratings of attractiveness for both mesomorphic and endomorphic male figures. Women also judged figures with trunk hair as being older and they consistently rated endomorphic figures as being older than mesomorphs. These results are consistent with effects of sexual selection upon visual signals that advertise health, physical prowess, age, and underlying endocrine condition in the human male. PMID:12597270

  13. Employee's Pursuit of Hirsute: The Arbitration of Hair and Beard Cases.

    ERIC Educational Resources Information Center

    Marmo, Michael

    1979-01-01

    Arbitrators agreed that the dress issue is not constitutional and that the employer's desire to maintain product cleanliness and employee safety takes precedence over an employee's desire concerning his or her hair. However, an employer's desire to maintain a certain image does not take precedence. (IRT)

  14. Noncontraceptive Benefits of Birth Control Pills

    MedlinePlus

    ... that contain hormones) and one week of inactive placebo Treatment for acne, hirsutism (excess hair) and alopecia ( ... growth in the midline that the sugar or placebo pills are taken. A woman can increase the ...

  15. Excessive or unwanted hair in women

    MedlinePlus

    Hypertrichosis; Hirsutism; Hair - excessive (women); Excessive hair in women; Hair - women - excessive or unwanted ... much of this hormone, you may have unwanted hair growth. In most cases, the exact cause is ...

  16. Spearmint herbal tea has significant anti-androgen effects in polycystic ovarian syndrome. A randomized controlled trial.

    PubMed

    Grant, Paul

    2010-02-01

    Hirsutism in polycystic ovarian syndrome (PCOS), consequent to elevated androgen levels leads to significant cosmetic and psychological problems. Recent research in Turkey has shown that spearmint tea has antiandrogenic properties in females with hirsutism. No research has yet been undertaken to assess whether a reduction in androgen levels brought about by spearmint tea, translates to a clinical improvement in the degree of hirsutism. This study was a two centre, 30 day randomized controlled trial. Forty two volunteers were randomized to take spearmint tea twice a day for a 1 month period and compared with a placebo herbal tea. At 0, 15 and 30 days of the study serum androgen hormone levels and gonadotrophins were checked, the degree of hirsutism was clinically rated using the Ferriman-Galwey score and a questionnaire (the modified DQLI = Dermatology Quality of Life Index) was used to assess improvements in the level of self-reported hirsutism. Forty one of 42 patients completed the study. Free and total testosterone levels were significantly reduced over the 30 day period in the spearmint tea group (p < 0.05). LH and FSH also increased (p < 0.05). Patient's subjective assessments of their degree of hirsutism scored by the modified DQLI were significantly reduced in the spearmint tea group (p < 0.05). There was, however, no significant reduction in the objective Ferriman-Galwey ratings of hirsutism between the two trial groups over the trial duration (p = 0.12). There was a clear and significant alteration in the relevant hormone levels. This is associated clinically with a reduction in the self-reported degree of hirsutism but unfortunately not with the objectively rated score. It was demonstrated and confirmed that spearmint has antiandrogen properties, the simple fact that this does not clearly translate into clinical practice is due to the relationship between androgen hormones and follicular hair growth and cell turnover time. Simply put, the study duration

  17. Evaluation and therapy of polycystic ovarian syndrome.

    PubMed

    Loy, R; Seibel, M M

    1988-12-01

    The amenorrhea associated with bilateral polycystic ovaries, described by Stein and Leventhal, actually represents a syndrome involving various organs and systems. Clinically, this symptom complex commonly presents as menstrual disturbances, infertility, excessive body weight, and hirsutism. An understanding of the pathophysiology that underlies these symptoms provides a logical basis for evaluation and treatment of the syndrome. The diagnostic approach may involve biochemical determinations (baseline, stimulated, and suppressed) and radiologic testing. Therapy is directed at chronic anovulation, the hyperandrogenism responsible for hirsutism and acne, and the prophylaxis against endometrial and breast carcinomas. Ovulation can be induced with various agents, many of which have a risk of ovarian hyperstimulation in the PCOD patient. The use of GnRH agonists with HMG or FSH for ovulation induction will probably increase in the future. Although classic wedge resection has little place in modern management of PCOD, the recent laparoscopic ovarian cautery remains largely unstudied with respect to long-term postoperative plasma androgen levels and pelvic adhesions. It is too premature to evaluate this new surgical therapy. Hirsutism is effectively treated with estrogen-progestin combinations, medroxyprogesterone acetate, androgen receptor blockers (spironolactone, cimetidine, cyproterone acetate, and cyproheptadine), and glucocorticoids. To date, the available GnRH agonists have not been found selective enough to be used in the treatment of hirsutism, owing to possible long-term complications. Most medical approaches should include electrolysis for permanent hair removal. At present, gynecologic surgery seems to have little place in the management of hirsutism. PMID:3143568

  18. Combined Adrenal and Ovarian Venous Sampling to Localize an Androgen Producing Tumor

    SciTech Connect

    Agarwal, Monica D.; Trerotola, Scott O.

    2010-12-15

    A postmenopausal woman presented with hirsutism and elevated serum testosterone levels. A 1-cm adrenal adenoma was noted on computed tomography. Combined adrenal and ovarian venous sampling was performed to localize an androgen producing tumor to the left ovary. The patient underwent a bilateral salpingo-oophrectomy and was spared an unnecessary adrenalectomy.

  19. Field-based high-throughput plant phenotyping reveals the temporal patterns of quantitative trait loci associated with stress-responsive traits in cotton

    Technology Transfer Automated Retrieval System (TEKTRAN)

    To dissect the genetic basis of dynamic adaptive traits under relevant growing conditions, we employed a field-based, high-throughput plant phenotyping (HTPP) system that deployed four sets of sensors to simultaneously measure canopy temperature, reflectance, and height on a cotton (Gossypium hirsut...

  20. Identification of a novel androgen receptor agonist (or “androgen mimic”) of environmental concern: spironolactone

    EPA Science Inventory

    Spironolactone is a pharmaceutical that acts as an androgen receptor (AR) antagonist in humans to treat certain conditions such as hirsutism, various dermatologic afflictions, and female pattern hair loss. The drug is also used to treat hypertension as a diuretic. With this commo...

  1. Anti-androgen treatments.

    PubMed

    Bachelot, Anne; Chabbert-Buffet, Nathalie; Salenave, Sylvie; Kerlan, Véronique; Galand-Portier, Marie-Béatrice

    2010-02-01

    1. Estrogen plus progestin contraceptives (EPP) are the first-line treatment of moderate hirsutism and acne in women of child bearing age (grade C). 2. CPA, 50mg/day, 20 days out of 28, associated with estrogen is the first-line treatment of "moderate to severe hirsutism" in women of childbearing age (grade C). 3. Spironolactone, given as a contraceptive, can be proposed as a second-line treatment in case of side effects or counter-indications to CPA in moderate to severe hirsutism (grade C) in women of childbearing age. No market authorization in this indication. 4. Flutamide or Finasteride are "only" to be used under the guise of contraception as a "thirdline therapy" in cases of severe hirsutism, the presence of side effects or counter-indications to EPP, CPA 50mg/day or spironolactone (grade C). No market authorization in this indication 5. There is no indication for GnRH analogs as an anti-androgen treatment in women of childbearing age given the current therapeutic alternatives (grade C) 6. Only long-term hair removal treatments can be proposed (grade C): electrolysis or laser hair removal. PMID:20096826

  2. Rabson-Mendenhall Syndrome

    PubMed Central

    Hassan, Iffat; Altaf, Hinah; Yaseen, Atiya

    2014-01-01

    Rabson-Mendenhall syndrome (RMS) is a rare genetic disorder characterized by growth retardation, dysmorphisms, lack of subcutaneous fat, acanthosis nigricans, enlarged genitalia, hirsutism, dysplastic dentition, coarse facial features, abnormal glucose homeostasis, hyperinsulinemia and pineal hyperplasia. Herein, we describe a 13-year-old girl with physical features of RMS who presented to us on account of acanthosis nigricans. PMID:25484423

  3. Cross species sensitivity to a novel androgen receptor agonist of potential environmental concern, spironolactone

    EPA Science Inventory

    Spironolactone (SPL) is a pharmaceutical that is used in humans as an androgen receptor (AR) antagonist to treat conditions like hirsutism, various dermatologic afflictions, and female pattern hair loss, in addition to its common usage as a diuretic to treat hypertension. Althoug...

  4. Delineating the Effects of Spironolactone on Two Small Fish Species

    EPA Science Inventory

    Spironolactone is a pharmaceutical that acts as an anti-androgen in humans to treat certain conditions such as hirsutism and female pattern hair loss. This drug is also used to treat hypertension, various dermatologic conditions, and as a diuretic. With its common usage for vario...

  5. Bad Hair Day: Testosterone and Wnts.

    PubMed

    Nelson, Amanda M; Garza, Luis A

    2015-11-01

    Androgens have an important role in normal skin physiology, as well as in the pathogenesis of many skin conditions, such as acne vulgaris, hirsutism, and androgenic alopecia. Kretzchumar et al. (2015) investigate the relationship between androgen receptor (AR) signaling and β-catenin/Wnt signaling pathways in murine hair follicles. PMID:26548488

  6. [Hyperandrogenism in women].

    PubMed

    Peigné, Maëliss; Villers-Capelle, Anne; Robin, Geoffroy; Dewailly, Didier

    2013-11-01

    Clinical signs of hyperandrogenism include hirsutism, acne and/or seborrhea, androgenic alopecia, menstrual disorders and at maximum virilization. Hirsutism is defined by the presence of a coarse and pigmented hair in male territory. In the Caucasian populations, a Ferriman Gallwey score ≥ 6 means hirsutism. Polycystic ovary syndrome is the most common cause of hyerandrogenism in women (70 % of cases) but must remain a diagnosis of exclusion. A neoplasm origin is suspected in case of recent onset of hyperandrogenism, which is rapidly progressive and with signs of virilization. The serum level of total testosterone and 17-hydroxyprogesterone and pelvic ultrasonography are the first line tests in case of clinical hyperandrogenism. Combined oral contraceptive pill can be the first line treatment in case of moderate hyperandrogenia, associated, if needed, with a specific acne treatment. Cyproterone acetate is the best-known and most effective antiandrogenic treatment. It decreases the hair density, speed of regrowth and pigmentation. It is indicated in severe hirsutism and must be combined with cosmetic cares. PMID:24184282

  7. Bad Hair Day: Testosterone and Wnts

    PubMed Central

    Nelson, Amanda M.; Garza, Luis A.

    2016-01-01

    Androgens have an important role in normal skin physiology, as well as in the pathogenesis of many skin conditions, such as acne vulgaris, hirsutism, and androgenic alopecia. Kretzchumar et al. (2015) investigate the relationship between androgen receptor (AR) signaling and β-catenin/Wnt signaling pathways in murine hair follicles. PMID:26548488

  8. [Gingival fibromatosis with oligophrenia and self-injurious behavior].

    PubMed

    Fehlow, P

    1990-01-01

    It is reported on a 14-year-old girl with a hirsutism gingival fibromatosis syndrome, which is combined with moderate generalised muscle hypotonia, inhibition of physical maturation, severe scoliosis, diastasis recti abdominis and aplasia of a rib. Psychically there are idioty, autism and severe selfinjurious behaviour. PMID:2377378

  9. Associação entre lipid accumulation product (LAP) e hirsutismo na síndrome do ovário policístico.

    PubMed

    Oliveira, Flávia Ribeiro de; Rezende, Mariana Bicalho; Faria, Nícolas Figueiredo; Dias, Tomás Ribeiro Gonçalves; Oliveira, Walter Carlos Santos de; Rocha, Ana Luiza Lunardi; Cândido, Ana Lúcia

    2016-02-01

    Objective Polycystic ovary syndrome (PCOS) is the most common endocrine metabolic disorder in women between menarche and menopause. Clinical hyperandrogenism is the most important diagnostic criterion of the syndrome, which manifests as hirsutism in 70% of cases. Hirsute carriers of PCOS have high cardiovascular risk. Lipid accumulation product (LAP) is an index for the evaluation of lipid accumulation in adults and the prediction of cardiovascular risk. The aim of this study was to evaluate the association between LAP and hirsutism in women with PCOS. Methods This was a cross-sectional observational study of a secondary database, which included 263 patients who had visited the Hyperandrogenism Outpatient Clinic from November 2009 to July 2014. The exclusion criteria were patients without Ferriman-Gallwey index (FGI) and/or LAP data. We used the Rotterdam criteria for the diagnosis of PCOS. All patients underwent medical assessment followed by measurement and recording of anthropometric data and the laboratory tests for measurement of the following: thyroid-stimulating hormone, follicle-stimulating hormone, prolactin, total testosterone, sex hormone binding globulin, 17-α-hydroxyprogesterone (follicular phase), glycohemoglobin A1c, and basal insulin. In addition, the subjects underwent lipid profiling and oral glucose tolerance tests. Other laboratory measurements were determined according to clinical criteria. LAP and the homeostatic model assessment index (HOMA-IR) were calculated using the data obtained. We divided patients into two groups: the PCOS group with normal LAP (< 34.5) and the PCOS group with altered LAP (> 34.5) to compare the occurrence of hirsutism. For statistical analysis, we used SPSS Statistics for Windows® and Microsoft Excel programs, with descriptive (frequencies, percentages, means, and standard deviations) and comparative analyses (Student's t-test and Chi-square test). We considered relations significant when the p-value was

  10. Pituitary pars intermedia dysfunction (equine Cushing’s disease) in a Thoroughbred stallion: a single report

    PubMed Central

    HATAZOE, Takashi; KAWAGUCHI, Hiroaki; HOBO, Seiji; MISUMI, Kazuhiro

    2016-01-01

    ABSTRACT Equine pituitary pars intermedia dysfunction (PPID) generally occurs in older horses showing hirsutism, delayed molting, weight loss, polydipsia, polyuria, laminitis, and reproductive disorders (in broodmares), but there have been no reports on stallions. This report presents a case of a 21-year-old Thoroughbred stallion that developed hirsutism and experienced delayed molting. There were no abnormal findings for semen quality or the stallion’s sexual desire. The horse was diagnosed with PPID based on dexamethasone suppression test and plasma levels of adrenocorticotropic hormone. It was then medicated with pergolide mesylate. Since the horse died due to humerus fracture, an autopsy was conducted, and pituitary adenoma was confirmed. No pathological findings were defined in the testicles; therefore, reproductive activity might not have been impaired. PMID:26858577

  11. Interventional studies for polycystic ovarian syndrome in children and adolescents

    PubMed Central

    Vuguin, Patricia Myriam

    2010-01-01

    Polycystic ovarian syndrome (PCOS) is characterized by chronic anovulation, clinical and/or biochemical hyperandrogenism, which can be associated with altered insulin action. Symptoms usually begin around menarche, but onset after puberty may also occur as a result of environmental modifiers such as weight gain. The consequences of PCOS extend beyond the reproductive axis; there is a substantial risk for development of metabolic and cardiovascular abnormalities similar to the metabolic syndrome. Currently, the treatment is targeted to the patient’s primary complaint such as hirsutism, restoration of regular menses or pregnancy. Pharmacological agents available for the treatment of hirsutism include androgen suppressors and peripheral androgen blockers. Recently, our understanding of the role of insulin resistance has led to the use of insulin-sensitizing medications as first-choice therapy. In conjunction with weight reduction and exercise, a pharmacologic reduction in insulin levels by either metformin or thiazolidinediones ameliorates both hyperinsulinemia and hyperandrogenism. PMID:20640230

  12. Dermatologic manifestation of hyperandrogenism: a retrospective chart review.

    PubMed

    Clark, Charlotte M; Rudolph, Jennifer; Gerber, Donald A; Glick, Sharon; Shalita, Alan R; Lowenstein, Eve J

    2014-01-01

    Several studies have described a wide spectrum of hyperandrogenism diseases, many of which are difficult to distinguish from each other. In order to better understand diseases of hyperandrogenism, the authors performed a retrospective study of the cutaneous features and metabolic findings in women with hyperandrogenism. A retrospective chart analysis compiled by three dermatologists in both academic and private settings was performed, including patients presenting with > or = 2 manifestations of hyperandrogenism. Relevant dermatologic and associated manifestations and laboratory and imaging study findings were reviewed. Moderate to severe acne was the most common manifestation. Other common manifestations that patients first presented with include hirsutism, acanthosis nigricans, androgenic alopecia, and skin tags. Oligomenorrhea was the most common systemic presenting sign. Statistical analysis of various clinical markers revealed correlations with hyperandrogenemia. Acanthosis nigricans and hirsutism were found to be useful clinical markers for hyperandrogenism, whereas androgenic alopecia was not. This study provides some insights into the presentation and diverse manifestations seen in hyperandrogenism. PMID:24933845

  13. Differential Contributions of Polycystic Ovary Syndrome (PCOS) Manifestations to Psychological Symptoms.

    PubMed

    McCook, Judy G; Bailey, Beth A; Williams, Stacey L; Anand, Sheeba; Reame, Nancy E

    2015-07-01

    The purpose of this study was to investigate the relative contributions of previously identified Polycystic ovary syndrome (PCOS) manifestations (infertility, hirsutism, obesity, menstrual problems) to multiple psychological symptoms. Participants were 126 female endocrinology patient volunteers diagnosed with PCOS who completed a cross-sectional study of PCOS manifestations and psychological symptoms. Participants had significantly elevated scores on nine subscales of psychological symptoms. Menstrual problems were significantly associated with all symptom subscales as well as the global indicator, while hirsutism and obesity were significantly related to five or more subscales. After controlling for demographic factors, menstrual problems were the strongest predictor of psychological symptoms. Findings suggest features of excess body hair, obesity, and menstrual abnormalities carry unique risks for adverse psychologic symptoms, but menstrual problems may be the most salient of these features and deserve particular attention as a marker for psychological risk among women with PCOS. PMID:24390359

  14. Virilizing ovarian stromal tumor in a young woman with Carney complex.

    PubMed

    Carney, J Aidan; Stratakis, Constantine A

    2011-10-01

    A woman with Carney complex presented at the age of 22 years with abdominal pain and hirsutism. As a baby, she had undergone excision of a right eyelid lesion, and at age 14 years she had undergone removal of a left lower eyelid nodule that subsequently recurred. Investigation revealed an elevated level of serum testosterone and a 2-cm left ovarian tumor. A left salpingo-oophorectomy was performed. Postoperatively, she experienced relief from abdominal pain, the serum level of testosterone normalized, and the hirsutism ameliorated. The tumor featured sheets of eosinophilic cells with lipochrome pigment, myeloid metaplasia, stromal metaplasia, and markedly abnormal blood vessels. Immunocytochemically, the tumor cells were positive for vimentin, synaptophysin, inhibin-A, and calrenin. Because of the clinical setting in which the neoplasm occurred, it is likely that is occurrence was related to Carney complex. PMID:21934476

  15. Serpentine fibula--polycystic kidney syndrome and Melnick-Needles syndrome are different disorders.

    PubMed

    Majewski, F; Enders, H; Ranke, M B; Voit, T

    1993-11-01

    We report on the third patient with serpentine fibula-polycystic kidney syndrome. Main features in the three reported cases were growth retardation, abnormal face, hirsutism, short neck, bowed forearms and lower legs due to bowed radii and elongated serpentine fibulae, and metatarsus adductus. Two patients including our own were deaf. All were mentally normal, all were female and sporadic. In addition, we report on a girl with Melnick-Needles syndrome and illustrate the similarities and differences between these syndromes. PMID:8276023

  16. Intellectual Disability: When the Hypertrichosis Is a Clue.

    PubMed

    Pezzani, Lidia; Milani, Donatella; Tadini, Gianluca

    2015-09-01

    The skin and the central and peripheral nervous system both derive from the ectoderm ridge. Therefore, several syndromes characterized by the presence of intellectual disability (ID) can be associated with specific congenital cutaneous manifestations. In this review, we list some of the most frequent diseases characterized by the presence of ID associated with hirsutism, which might be an incentive for the clinicians to pay attention to the ectodermal annexes in patients with ID. PMID:27617126

  17. The metabolic clearance rate and origin of plasma dihydrotestosterone in man and its conversion to the 5α-androstanediols

    PubMed Central

    Mahoudeau, Jacques A.; Bardin, C. Wayne; Lipsett, Mortimer B.

    1971-01-01

    Dihydrotestosterone metabolism was studied with a constant infusion technique in three men, three women, five hirsute women, and four estrogen-treated hirsute women. The mean dihydrotestosterone metabolic clearance rate was higher in men (336 liters/24 hr per m2 [range, 239-448]) than in women (153 liters/24 hr per m2 [range, 108-184]). The metabolic clearance rates in hirsute patients were intermediate between those men and women and were decreased by estrogen treatment. These observations demonstrate similarities in the metabolic rates of testosterone and dihydrotestosterone. The conversion of plasma testosterone and androstenedione to dihydrotestosterone was studied in men and hirsute women. Approximately 4 and 2% of plasma testosterone and androstenedione, respectively, were converted to plasma dihydrotestosterone in both groups. From these observations it was determined that a major fraction of plasma dihydrotestosterone was derived from these plasma precursors rather than from glandular secretion. Both 5α-androstan-3α,17β-diol (3α-diol) and 5α-androstan-3β,17β-diol (3β-diol) were identified in plasma during dihydrotestosterone and testosterone infusions. The conversion ratio of dihydrotestosterone to 3α-diol (CBBDHT-3α) was greater than the conversion ratio to the 3β-isomer (CBBDTH-3β) in all the patients studied. Both CBBDHT-3α and CBBDHT-3β were higher in men (mean values of 0.151 [range, 0.110-0.222] and 0..031 [range, 0.022-0.042]) than in women (means of 0.044 [range, 0.037-0.048] and 0.012 [range 0.010-0.013]). A smaller fraction of testosterone was converted to 3α-diol and 3β-diol. PMID:5103749

  18. Acne neonatorum and familial hyperandrogenism.

    PubMed

    Bekaert, C; Song, M; Delvigne, A

    1998-01-01

    We report a case of acne neonatorum developed in a boy since birth. His mother and his aunt had different signs of hyperandrogenism including acne and hirsutism. This case illustrates the correlation between acne neonatorum and familial hyperandrogenism. It shows the importance of the family history and the eventual clinical and serological presence of hyperandrogenism in the mother when confronted with acne neonatorum. PMID:9669129

  19. Emerging concepts about prenatal genesis, aberrant metabolism and treatment paradigms in polycystic ovary syndrome.

    PubMed

    Witchel, Selma F; Recabarren, Sergio E; González, Frank; Diamanti-Kandarakis, Evanthia; Cheang, Kai I; Duleba, Antoni J; Legro, Richard S; Homburg, Roy; Pasquali, Renato; Lobo, Rogerio A; Zouboulis, Christos C; Kelestimur, Fahrettin; Fruzzetti, Franca; Futterweit, Walter; Norman, Robert J; Abbott, David H

    2012-12-01

    The interactive nature of the 8th Annual Meeting of the Androgen Excess and PCOS Society Annual Meeting in Munich, Germany (AEPCOS 2010) and subsequent exchanges between speakers led to emerging concepts in PCOS regarding its genesis, metabolic dysfunction, and clinical treatment of inflammation, metabolic dysfunction, anovulation and hirsutism. Transition of care in congenital adrenal hyperplasia from pediatric to adult providers emerged as a potential model for care transition involving PCOS adolescents. PMID:22661293

  20. Complementary Therapy in Polycystic Ovary Syndrome

    PubMed Central

    Aquino, C. I.; Nori, S. L.

    2014-01-01

    Polycystic Ovary Syndrome (PCOS) is an endocrine disease. PCOS afflicts 5 to 10 % of women of reproductive age. The symptoms are: amenorrhea, oligomenorrhea, hirsutism, obesity, infertility, chronic hyperandrogenic anovulation and acne. Other risk factors aggravate this condition: insulin resistance, obesity, hypertension, dyslipidemia, inflammation and subclinical cardiovascular disease. Anxiety, depression and reduced quality of life are also common. This review highlights the mechanisms and the beneficial effects of acupuncture, exercise and resveratrol on animal models and on humans affected by PCOS. PMID:24809037

  1. The Effect of Flaxseed Supplementation on Hormonal Levels Associated with Polycystic Ovarian Syndrome: A Case Study

    PubMed Central

    Nowak, Debra A.; Snyder, Denise C.; Brown, Ann J.; Demark-Wahnefried, Wendy

    2009-01-01

    Flaxseed is a rich source of lignan and has been shown to reduce androgen levels in men with prostate cancer. Polycystic ovarian syndrome (PCOS), a common endocrine disorder among women in their reproductive years, also is associated with high levels of androgens and is frequently accompanied by hirsutism, amenorrhea and obesity. This clinical case study describes the impact of flaxseed supplementation (30 g/day) on hormonal levels in a 31-year old woman with PCOS. During a four month period, the patient consumed 83% of the flaxseed dose. Heights, weights, and fasting blood samples taken at baseline and 4-month follow-up indicated the following values: BMI (36.0 vs. 35.7m/kg2); insulin (5.1 vs. 7.0 uIU/ml); total serum testosterone (150 ng/dl vs. 45 ng/dl); free serum testosterone (4.7 ng/dl vs. 0.5 ng/dl); and % free testosterone (3.1% vs. 1.1%). The patient also reported a decrease in hirsutism at the completion of the study period. The clinically-significant decrease in androgen levels with a concomitant reduction in hirsutism reported in this case study demonstrates a need for further research of flaxseed supplementation on hormonal levels and clinical symptoms of PCOS. PMID:19789727

  2. Evidence-based approach to cutaneous hyperandrogenism in women.

    PubMed

    Schmidt, Timothy H; Shinkai, Kanade

    2015-10-01

    Hirsutism, acne, and androgenetic alopecia are classically considered signs of cutaneous hyperandrogenism (CHA). These common skin findings have significant impacts on the quality of patients' lives and pose the diagnostic challenge of excluding underlying disorders. Many with CHA have normal serum androgen levels. Hirsutism is more strongly associated with hyperandrogenism than are acne or androgenetic alopecia. Variable association of CHA with hyperandrogenemia results from the complexity of the underlying pathophysiology, including factors local to the pilosebaceous unit. CHA often occurs in the setting of polycystic ovary syndrome, the most common disorder of hyperandrogenism, but can also present in uncommon conditions, including nonclassic adrenal hyperplasia and androgen-producing tumors. A thorough history and full skin examination are important to guide appropriate diagnostic evaluation. Oral contraceptive pills with or without antiandrogens can provide therapeutic benefit for hirsutism and acne. Medical options for androgenetic alopecia remain limited. Multidisciplinary approaches may be needed given endocrine, metabolic, reproductive, and psychiatric disorders associated with CHA. More high-quality studies into the mechanisms of CHA and the benefits of antiandrogenic therapies are needed. We provide an evidence-based review of key diagnostic and therapeutic considerations in the treatment of women with CHA. PMID:26138647

  3. Correlation of Skin Changes with Hormonal Changes in Polycystic Ovarian Syndrome: A Cross-sectional Study Clinical Study

    PubMed Central

    Gowri, B Vijaya; Chandravathi, PL; Sindhu, PS; Naidu, K Shanthi

    2015-01-01

    Background: Polycystic ovarian syndrome (PCOS) is a heterogenous collection of signs and symptoms that when gathered, form a spectrum of disorder with disturbance of reproductive, endocrine and metabolic functions. Aim: The aim of this study is to correlate the skin manifestations with hormonal changes and to know the incidence and prevalence of skin manifestations in patients with PCOS. Materials and Methods: A total of 40 patients with PCOS were examined during 1 year time period from May 2008 P to May 2009. Detailed clinical history was taken from each patient. PCOS was diagnosed on the basis of ultrasonography. Hormonal assays included fasting blood sugar, postprandial blood sugar, follicle-stimulating hormone, luteinizing hormone, thyroid stimulating hormone, dehydroepiandrostenedione, prolactin, free testosterone, fasting lipid profile and sex hormone binding globulin. The results obtained were statistically correlated. Results: In our study, the prevalence of cutaneous manifestations was 90%. Of all the cutaneous manifestations acne was seen in highest percentage (67.5%), followed by hirsutism (62.5%), seborrhea (52.5%), androgenetic alopecia (AGA) (30%), acanthosis nigricans (22.5%) and acrochordons (10%). Fasting insulin levels was the most common hormonal abnormality seen in both acne and hirsutism, whereas AGA was associated with high testosterone levels. Conclusion: The prevalence of cutaneous manifestations in PCOS was 90%. Hirsutism, acne, seborrhea, acanthosis nigricans and acrochordons were associated with increased levels of fasting insulin, whereas AGA showed higher levels of serum testosterone. PMID:26288423

  4. Epidemiology of polycystic ovary syndrome: a cross sectional study of university students at An-Najah national university-Palestine

    PubMed Central

    2013-01-01

    Background Polycystic Ovary Syndrome (PCOS) is the most common gynecological endocrinopathy in women of reproductive age. Despite its heavy burden on female reproduction and general health, there is no study regarding PCOS prevalence in Palestine. This study aims to establish prevalence of PCOS among female university students at An-Najah National University-Palestine and to explore its possible risk factors. Methods A cross sectional study was conducted on 137 female students using convenience sampling method for age group (18–24) years. PCOS cases were identified according to the National Institute of health (NIH) criteria through clinical interview and assessment for participants at the University clinics. Menstrual irregularities regarding cycle and flow were identified and clinical hyperandrogenism was assessed as the self-reported degree of hirsutism using the modified Ferriman Gallwey (mF-G) scoring method of more than 8 score. Biochemical hyperandrogenism for girls with menstrual irregularities was assessed by measuring free testosterone level. Data were analyzed using SPSS version 17 applying descriptive methods; different risk factor relationships were estimated using bivariate analysis and multivariate logistic regression. Results The estimated prevalence of PCOS was 7.3% , acne was the only studied risk factor among others to be statistically significantly related to PCOS patients (OR = 8.430, P-value = 0.015). Clinical Hirsutism was found in 27% of participants, 70% of whom had idiopathic hirsutism. Conclusions Prevalence of PCOS in Palestine seems to be relatively high but similar to other Mediterranean statistics. We recommend further studies using wider age group and larger sample for all parts of Palestine in order to generalize results. PMID:23688000

  5. Predictors of depression in women with polycystic ovary syndrome.

    PubMed

    Naqvi, Syed Haider; Moore, Ava; Bevilacqua, Kris; Lathief, Sanam; Williams, Joanne; Naqvi, Nighat; Pal, Lubna

    2015-02-01

    The aim of this study is to assess the prevalence and predictors of depressive symptoms in women with polycystic ovary syndrome (PCOS). In a cross-sectional study of 114 women seeking consultation for symptoms of PCOS (menstrual irregularity, hirsutism, and/or acne), personal and family history of depression (HD and FHD respectively) were enquired. Vitamin D status (n = 104) and manifest depressive symptoms assessed by personal health questionnaire (PHQ) (MD) were evaluated in a subset (85). Relationships between HD and MD with PCOS symptoms, FHD, and vitamin D status were assessed using adjusted analyses. Thirty-five percent acknowledged a HD; MD (PHQ > 4) was apparent in 43 %. HD was associated with hirsutism (OR 2.4, 95 % CI 1.01-5.9), disturbed sleep (OR 3.0, 95 % CI 1.3-6.9), and with FHD (OR 4.8, 95 % CI 1.7-13.5). Disturbed sleep (OR 2.4, 95 % CI 1.01-5.7) and FHD (OR 3.8, 95 % CI 1.3-11.2) were independent predictors of HD adjusting for race and BMI. An inverse correlation was noted between serum 25 OH vitamin D (25OHD) levels and PHQ score, but only in those with vitamin D deficiency (25OHD ≤ 30 ng/ml, n = 57, r =-0.32, p = 0.015). 25OHD < 20 ng/ml (OR 3.5, 95 % CI 1.1-11.8) and HD (OR 12.8, 95 % CI 3.6-45.2) predicted scoring in the highest PHQ tertile after adjusting for hirsutism, BMI, and race. In women with PCOS, disturbed nocturnal sleep and FDH predicted personal HD, whereas HD and vitamin D deficiency related to the severity of MD symptoms. PMID:25209354

  6. The relationship between quality of life and coping strategies in polycystic ovary syndrome patients

    PubMed Central

    Kolahi, Leila; Asemi, Neda; Mirzaei, Mohammadreza; Adibi, Neda; Beiraghdar, Mina; Mehr, Asieh Maghami

    2015-01-01

    Background: There are many factors that affect the quality of life, for example, stress and the coping strategies. Polycystic ovary syndrome is a common hormonal disorder leading to menstrual disorders, hirsutism, acne, obesity, infertility and abortion. In such cases, the patients suffer from a variety of stresses and face problems in their coping strategies with life's problems which can affect the quality of life and cause psychological distress and low the quality of life. The quality of life is a descriptive term which points to health and emotional, social and physical promotion of individuals as well as their ability to perform daily living tasks. The purpose of this study was to investigate the relationship between quality of life and coping strategies in patients with polycystic ovary syndrome. Materials and Methods: To perform this study, randomly 200 women who had inclusion criteria and were referred to Ali Shariati Hospital in Isfahan were selected and responded DLQI questionnaire and Carver coping strategies and form of demographic characteristics. Results: The mean score of quality of life in the patients was 4.14 ± 5.57. It was shown that acne has no effective role on quality of life and coping strategies in contrast in hirsute and non-hirsute patients; there was a significant difference in quality of life P value < 0.001). Also there is a significant relationship between the quality of life and coping strategies (problem solving, cognitive, emotional and social support) (P < 0.05) and quality of life has the highest correlation with emotional strategies (r = 0.46). Conclusion: According to results of this study, patients with PCOS are at risk pcychologicla disorders that may be led to decrease of quality of life. Thus this patients need to support by oppositions strategies. Also not only physical treatment but also psychological surveillance especially social support must be done for them. PMID:26436082

  7. The impact of polycystic ovary syndrome on the health-related quality of life: A systematic review and meta-analysis

    PubMed Central

    Bazarganipour, Fatemeh; Taghavi, Seyed Abdolvahab; Montazeri, Ali; Ahmadi, Fazlollah; Chaman, Reza; Khosravi, Ahmad

    2015-01-01

    Background: Polycystic ovary syndrome (PCOS) has been shown to cause a reduction in health-related quality of life (HRQOL). However, the relative degree of impairment in each domain differed among samples, and it was not clear which aspect of disease-specific HRQOL (modified polycystic ovary syndrome health-related quality of life questionnaire) was most negatively affected. Objective: To systematically review the effects of PCOS on specific domains of HRQOL. Materials and Methods: Literature search using search engine of database (PubMed, PsychInfo, CINAHL, CENTRAL, and Scopus) between 1998 to December 2013 yields 6 relevant publications. Pairs of raters used structural tools to analyze these articles, through critical appraisal and data extraction. The scores of each domain of polycystic ovarian syndrome questionnaire (PCOSQ) or modified version (MPCOSQ) of 1140 women with PCOS were used in meta-analysis. Results: The combine mean of emotional (4.40; 95% CI 3.77-5.04), infertility (4.13; 95% CI 3.81-4.45) and weight (3.88; 95% CI 2.33-5.42) dimensions were better, but menstruation (3.84; 95% CI 3.63-4.04) and hirsutism (3.81; 95% CI 3.26-4.35) domains were lower than the mean score of PCOSQ/MPCOSQ in related dimension. Conclusion: The meta-analysis showed that the most affected domains in specific HRQOL were hirsutism and menstruation. Based on these findings, we recommend healthcare providers to be made aware that HRQOL impairment of PCOS is mainly caused by their hirsutism and menstruation, which requires appropriate management. PMID:25999994

  8. Genetic, hormonal and metabolic aspects of PCOS: an update.

    PubMed

    De Leo, V; Musacchio, M C; Cappelli, V; Massaro, M G; Morgante, G; Petraglia, F

    2016-01-01

    Polycystic ovary syndrome (PCOS) is a complex endocrine disorder affecting 5-10 % of women of reproductive age. It generally manifests with oligo/anovulatory cycles, hirsutism and polycystic ovaries, together with a considerable prevalence of insulin resistance. Although the aetiology of the syndrome is not completely understood yet, PCOS is considered a multifactorial disorder with various genetic, endocrine and environmental abnormalities. Moreover, PCOS patients have a higher risk of metabolic and cardiovascular diseases and their related morbidity, if compared to the general population. PMID:27423183

  9. Sexual hormones in human skin.

    PubMed

    Zouboulis, C C; Chen, W-C; Thornton, M J; Qin, K; Rosenfield, R

    2007-02-01

    The skin locally synthesizes significant amounts of sexual hormones with intracrine or paracrine actions. The local level of each sexual steroid depends upon the expression of each of the androgen- and estrogen-synthesizing enzymes in each cell type, with sebaceous glands and sweat glands being the major contributors. Sebocytes express very little of the key enzyme, cytochrome P450c17, necessary for synthesis of the androgenic prohormones dehydroepiandrosterone and androstenedione, however, these prohormones can be converted by sebocytes and sweat glands, and probably also by dermal papilla cells, into more potent androgens like testosterone and dihydrotestosterone. Five major enzymes are involved in the activation and deactivation of androgens in skin. Androgens affect several functions of human skin, such as sebaceous gland growth and differentiation, hair growth, epidermal barrier homeostasis and wound healing. Their effects are mediated by binding to the nuclear androgen receptor. Changes of isoenzyme and/or androgen receptor levels may have important implications in the development of hyperandrogenism and the associated skin diseases such as acne, seborrhoea, hirsutism and androgenetic alopecia. On the other hand, estrogens have been implicated in skin aging, pigmentation, hair growth, sebum production and skin cancer. Estrogens exert their actions through intracellular receptors or via cell surface receptors, which activate specific second messenger signaling pathways. Recent studies suggest specific site-related distribution of ERalpha and ERbeta in human skin. In contrast, progestins play no role in the pathogenesis of skin disorders. However, they play a major role in the treatment of hirsutism and acne vulgaris, where they are prescribed as components of estrogen-progestin combination pills and as anti-androgens. These combinations enhance gonadotropin suppression of ovarian androgen production. Estrogen-progestin treatment can reduce the need for shaving

  10. Antiandrogen and hormonal treatment of acne.

    PubMed

    Shaw, J C

    1996-10-01

    In the treatment of acne in women, the use of antiandrogens and other hormonal approaches is a valuable alternative to standard therapy. These treatments that are based on physiologically sound principles produce gratifying results in selected women with acne, and are the primary treatment for women with hirsutism. The drugs discussed in this article include spironolactone, cyproterone acetate, flutamide, oral contraceptives, corticosteroids, finasteride, and gonadotropin-releasing hormone agonists. Patient selection, pretreatment evaluation, and case studies also are discussed with an emphasis on practical applications. PMID:9238337

  11. Current aspects of antiandrogen therapy in women.

    PubMed

    Diamanti-Kandarakis, E

    1999-09-01

    Androgenic manifestations in appearance cause not only social and psychological distress for many women, but serious skin, reproductive and metabolic abnormalities as well. Antiandrogen therapy is one of the most promising therapies to treat androgenic disorders. Clinical studies with a variety of agents, including spironolactone, cyproterone acetate, flutamide and finasteride have now proven their utility in the treatment of hirsutism, acne, androgenic alopecia and ovulatory dysfuntion in hyperandrogenic women. Comparative clinical studies, especially with low-dose regimens, suggest that these agents are well tolerated and have the potential for broader clinical utility. PMID:10495361

  12. Polycystic ovary syndrome: a review for dermatologists: Part II. Treatment.

    PubMed

    Buzney, Elizabeth; Sheu, Johanna; Buzney, Catherine; Reynolds, Rachel V

    2014-11-01

    Dermatologists are in a key position to treat the manifestations of polycystic ovary syndrome (PCOS). The management of PCOS should be tailored to each woman's specific goals, reproductive interests, and particular constellation of symptoms. Therefore, a multidisciplinary approach is recommended. In part II of this continuing medical education article, we present the available safety and efficacy data regarding treatments for women with acne, hirsutism, and androgenetic alopecia. Therapies discussed include lifestyle modification, topical therapies, combined oral contraceptives, antiandrogen agents, and insulin-sensitizing drugs. Treatment recommendations are made based on the current available evidence. PMID:25437978

  13. Nonclassic Congenital Adrenal Hyperplasia

    PubMed Central

    Witchel, Selma Feldman; Azziz, Ricardo

    2010-01-01

    Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and “on-time” puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH. PMID:20671993

  14. Activity-guided isolation of cytotoxic bis-bibenzyl constituents from Dumortiera hirsuta.

    PubMed

    Toyota, Masao; Ikeda, Risa; Kenmoku, Hiromichi; Asakawa, Yoshinori

    2013-01-01

    Activity-guided fractionation of the ether extract of Dumortiera hirsute (Japanese liverwort), using cytotoxicity testing with cultured HL 60 and KB cells, resulted in the isolation of a new cytotoxic bis-bibenzyl compound, along with the two known bis-bibenzyls: isomarchantin C and isoriccardin C. The structural determination of the new bis-bibenzyl through extensive NMR spectral data indicated a derivative of marchantin A, which has been isolated from the liverwort Marchantia polymorpha. The cytotoxicity of the bis-bibenzyls was evaluated by the MTT (3-(4,5-di-methylthiazol-2-yl)-2,5-diphenyltetrazolium bromide) assay using cultured HL 60 and KB cells. PMID:23391534

  15. Dermatosis associated with menopause.

    PubMed

    Nair, Pragya A

    2014-10-01

    Menopause is defined as permanent irreversible cessation of menses brought by decline in ovarian follicular activity. Hormonal alteration results in various physical, psychological, and sexual changes in menopausal women. Associated dermatological problems can be classified as physiological changes, age-related changes, changes due to estrogen deficiency and due to hormone replacement therapy. Dermatosis seen due to estrogen deficiency includes Atrophic Vulvovaginitis, Vulvar Lichen Sclerosus, Dyaesthetic Vulvodynia, Hirsutism, Alopecia, Menopausal Flushing, Keratoderma Climactericum, Vulvovaginal Candidiasis. Dermatologists and gynecologists need to be familiar with the problems of menopausal women, as with increase in life expectancy, women passing through this phase is rising. PMID:25540566

  16. [Mechanism of effect and clinical use of antiandrogens].

    PubMed

    Ulrich, F E; Schneyer, U

    1977-04-15

    It is reported on the possibilities of the application of anti-androgenics, especially of cyproterone acetate. The indication extends to hirsutism, sexual deviations, growth disturbances in pubertas praecox as well as diseases of the prostate. Particularly strong standard are to be applied in the treatment of fertile women, as there exists the danger of an intrauterine feminisation of male foetuses, when a pregnancy was not absolutely excluded. Side-effects and results of animal experiments are mentioned. The therapeutic mechanism of the anti-androgenics can be explained with the help of a concurrency mechanism at the androgen receptor or acceptor. PMID:70117

  17. [A rare polydysmorphic syndrome: leprechaunism. Review of 49 cases reported in the literature].

    PubMed

    Cantani, A; Ziruolo, M G; Tacconi, M L

    1987-01-01

    Leprechaunism is a very rare condition of obscure etiology. Since the first report (Donohue, 1948) 48 patients have been described. The typical stigmata are a "gnome" facies with a saddle nose, broad mouth, large and low-set ears, hirsutism, cutis laxa with atrophy of adipose tissue, dwarfism, extreme wasting, and dysphagia requiring parenteral feeding. After reviewing the literature and discussing the morphological, biological, and etiopathogenetic aspects, the authors conclude that the diagnosis of leprechaunism is essentially a clinic one, as there are no specific laboratory tests. PMID:3322162

  18. Metastatic Malignant Ovarian Steroid Cell Tumor: A Case Report and Review of the Literature

    PubMed Central

    Lee, Jessica; John, Veena S.; Liang, Sharon X.; D'Agostino, Catherine A.; Menzin, Andrew W.

    2016-01-01

    We report a case of malignant ovarian steroid cell tumor not otherwise specified (NOS) in a 47-year-old female who presented with hirsutism, virilization, and amenorrhea. At the time of laparotomy, the tumor had already spread to the pelvic cul-de-sac. She underwent a total hysterectomy, bilateral salpingo-oophorectomy, and tumor resection with no residual disease. She received three cycles of bleomycin, etoposide, and cisplatin (BEP) and is now free of disease 24 months after surgery. Literature review of ovarian steroid cell tumors NOS including clinicopathological features and clinical management was performed. PMID:27375912

  19. Wet-dog shake

    NASA Astrophysics Data System (ADS)

    Dickerson, Andrew; Mills, Zack; Hu, David

    2010-11-01

    The drying of wet fur is a critical to mammalian heat regulation. We investigate experimentally the ability of hirsute animals to rapidly oscillate their bodies to shed water droplets, nature's analogy to the spin cycle of a washing machine. High-speed videography and fur-particle tracking is employed to determine the angular position of the animal's shoulder skin as a function of time. We determine conditions for drop ejection by considering the balance of surface tension and centripetal forces on drops adhering to the animal. Particular attention is paid to rationalizing the relationship between animal size and oscillation frequency required to self-dry.

  20. Induced Changes in the Amino Acid Profile of Biomphalaria alexandrina Molluscan Host to Schistosoma mansoni Using Sublethal Concentrations of Selected Plant Molluscicides

    NASA Astrophysics Data System (ADS)

    Sanad Soliman, Mahmoud; El-Ansary, Afaf

    Amino acid profiles of control and Solanum nigrum, Ambrosia maritima, Thymelaea hirsute, Sinapis arvensis, Peganum haramala and Callistemon lanceolatus-treated Biomphalaria alexandrina snails were investigated in a trial to correlate the amino acid profile of treated snails to their previously reported molluscicidal and biological effects. Amino acid profiles of the snails were greatly manipulated with the treatment of dry powdered sublethal concentrations of the six studied plant molluscicides. The disturbed amino acid profiles of treated snails were discussed in relation to the decrease in snail's egg laying capacity, reduction of their compatibility for the development of the schistosome larvae and cercarial penetration of mammalian skin.

  1. Dermatosis associated with menopause

    PubMed Central

    Nair, Pragya A.

    2014-01-01

    Menopause is defined as permanent irreversible cessation of menses brought by decline in ovarian follicular activity. Hormonal alteration results in various physical, psychological, and sexual changes in menopausal women. Associated dermatological problems can be classified as physiological changes, age-related changes, changes due to estrogen deficiency and due to hormone replacement therapy. Dermatosis seen due to estrogen deficiency includes Atrophic Vulvovaginitis, Vulvar Lichen Sclerosus, Dyaesthetic Vulvodynia, Hirsutism, Alopecia, Menopausal Flushing, Keratoderma Climactericum, Vulvovaginal Candidiasis. Dermatologists and gynecologists need to be familiar with the problems of menopausal women, as with increase in life expectancy, women passing through this phase is rising. PMID:25540566

  2. Integumentary Disorders Including Cutaneous Neoplasia in Older Horses.

    PubMed

    Knottenbelt, Derek C

    2016-08-01

    Few skin diseases specifically or exclusively affect older horses and donkeys. Hypertrichosis (hirsutism) associated with pituitary pars intermedia dysfunction is probably the most recognized and best understood exception and is the most common age-related skin condition in equids. Many other conditions are known to be more serious in older horses. Horses affected with immune-compromising conditions can be more severely affected by infectious diseases of the skin or heavy and pathologically significant parasitism. Neoplasia of the skin is probably more prevalent and worse in older horses, although many of the more serious skin tumors develop initially at a younger age. PMID:27329491

  3. Epidemiology, diagnosis, and management of polycystic ovary syndrome.

    PubMed

    Sirmans, Susan M; Pate, Kristen A

    2013-01-01

    Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%-20% when the European Society for Human Reproduction and Embryology/American Society for Reproductive Medicine criteria are used. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Risk factors for PCOS in adults includes type 1 diabetes, type 2 diabetes, and gestational diabetes. Insulin resistance affects 50%-70% of women with PCOS leading to a number of comorbidities including metabolic syndrome, hypertension, dyslipidemia, glucose intolerance, and diabetes. Studies show that women with PCOS are more likely to have increased coronary artery calcium scores and increased carotid intima-media thickness. Mental health disorders including depression, anxiety, bipolar disorder and binge eating disorder also occur more frequently in women with PCOS. Weight loss improves menstrual irregularities, symptoms of androgen excess, and infertility. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Spironolactone and finasteride are used to treat symptoms of androgen excess. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology. Recent data suggest that letrozole and metformin may play an important role in ovulation induction. Proper diagnosis and management of PCOS is essential to address patient concerns but also to prevent future metabolic, endocrine, psychiatric, and cardiovascular complications. PMID:24379699

  4. Sex hormone-binding globulin and female reproductive function.

    PubMed

    Botwood, N; Hamilton-Fairley, D; Kiddy, D; Robinson, S; Franks, S

    1995-06-01

    Although sex steroids have long been known to influence serum concentrations of SHBG, it is now recognized that nutritional factors may be more important in the regulation of SHBG in women. Thus, SHBG concentrations are negatively correlated with body mass index (BMI) and, more particularly, to indices of central adiposity. Polycystic ovary syndrome (PCOS), the most common cause of anovulatory infertility, is associated with truncal obesity, hyperandrogenism and hyperinsulinaemia. There is evidence that insulin may be the humoral mediator of the weight-dependent changes in SHBG. Serum SHBG concentrations are inversely correlated with both fasting and glucose-stimulated insulin levels, and insulin has been shown to have a direct inhibitory effect on SHBG synthesis and secretion by hepatocytes in culture. However, the interrelationship of BMI, insulin and SHBG appears to be different in women with PCOS from that in normal subjects. The clinical importance of the weight-related suppression of SHBG is illustrated by the finding of a greater prevalence of hirsutism in obese women PCOS compared with their lean counterparts. Obese subjects with PCOS have similar total testosterone concentrations to lean PCO women but have lower SHBG and reciprocally higher free testosterone levels. Calorie restriction results in reduction of serum insulin followed by an increase in SHBG and a fall in free testosterone but an isocaloric, low-fat diet has no significant effect on SHBG concentrations. Weight reduction in obese, hyperandrogenaemic women with PCO is an important approach to the management of both anovulation and hirsutism. PMID:7626505

  5. Differences in clinical and endocrine features between obese and non-obese subjects with polycystic ovary syndrome: an analysis of 263 consecutive cases.

    PubMed

    Kiddy, D S; Sharp, P S; White, D M; Scanlon, M F; Mason, H D; Bray, C S; Polson, D W; Reed, M J; Franks, S

    1990-02-01

    Two hundred and sixty-three women with ultrasound-diagnosed polycystic ovary syndrome were studied of whom 91 (35%) were obese (BMI greater than 25 kg/m2). Obese women with PCOS had a greater prevalence of hirsutism (73% compared with 56%) and menstrual disorders than non-obese subjects. Total testosterone and androstenedione concentrations in serum were similar in the two subgroups but SHBG concentrations were significantly lower, and free testosterone levels higher, in obese compared with lean subjects. In addition, concentrations of androsterone glucuronide, a marker of peripheral 5 alpha-reductase activity, were higher in obese than in non-obese women with PCOS. There were no significant correlations of either SHBG or free testosterone with androsterone glucuronide suggesting that obesity has independent effects on transport and on metabolism of androgen. There were no significant differences between the subgroups in either baseline gonadotrophin concentrations or the pulsatile pattern of LH and FSH secretion studied over an 8-h period. There was, however, an inverse correlation of FSH with BMI, but only in the obese subgroup. In conclusion, the increased frequency of hirsutism in obese compared with lean women with PCOS is associated with increased bio-availability of androgens to peripheral tissues and enhanced activity of 5 alpha-reductase in obese subjects. The mechanism underlying the higher prevalence of anovulation in obese women remains unexplained. PMID:2112067

  6. An improved ultrafiltration method for determining free testosterone in serum

    SciTech Connect

    Vlahos, I.; MacMahon, W.; Sgoutas, D.; Bowers, W.; Thompson, J.; Trawick, W.

    1982-11-01

    In this method, we use the Amicon MPS-1 centrifugal ultrafiltration device and the YMB membrane in measuring free testosterone in serum. Two independent assays are combined: total testosterone and the ultrafiltrable fraction of added (/sup 3/H)testosterone. The unbound fraction is determined in 0.15-0.5 mL ultrafiltrates of 0.6 to 1 mL of variably diluted serum that has been equilibrated with (/sup 3/H)testosterone at 37 degrees C. The assay is rapid (less than 1 h), practicable (requires 0.6 mL of serum), and reproducible (CV 3.2% within assay, 3.9% between assays). Accuracy was evaluated as the fraction of free testosterone in the ultrafiltrate of dialyzed serum vs that in a prior dialysate; they were the same confirming the validity of the free testosterone measurement. Samples from ostensibly healthy men and women and from hirsute and pregnant women gave results that agreed with those obtained by equilibrium dialysis. Total testosterone concentrations for normal and hirsute women showed considerable overlap, but data on free testosterone concentrations in these populations were better resolved.

  7. Hyperandrogenism-Insulin Resistance-Acanthosis Nigricans Syndrome

    PubMed Central

    Dédjan, A. H.; Chadli, A.; El Aziz, S.; Farouqi, A.

    2015-01-01

    Introduction. Female hyperandrogenism is a frequent motive of consultation. It is revealed by hirsutism, acne or seborrhea, and disorders in menstruation cycle combined or not with virilisation signs. Several etiologies are incriminated but the hyperandrogenism-insulin resistance-acanthosis nigricans syndrome is rare. Observation. A 20-year-old girl, having had a five-year-old secondary amenorrhea. The exam revealed a patient, normotensive with a body mass index at 30 kg/m2 and a waist measurement of 120 cm, a severe hirsutism assessed to be 29 according to Ferriman Gallwey scale, virilisation signs of male morphotype, clitoridic hypertrophy and frontal alopecia, and an acanthosis nigricans behind the neck, in the armpits and elbows. The assessment carried out revealed testosteronemia at 1.28 ng/mL, which is more than twice the upper norm of the laboratory. Imaging studies were negative for both ovarian and adrenal masses. The retained diagnosis is HAIR-AN syndrome probably related to ovarian hyperthecosis and she was provided with androcur 50 mg/day and estradiol pills 2 mg/day and under hygiene-dietetic conditions. Conclusion. This case proves that HAIR-AN syndrome could be responsible for severe hyperandrogenism with virilisation signs. It must be retained after discarding the tumoral causes and when there are signs of insulin resistance. PMID:26229697

  8. Epidemiology, diagnosis, and management of polycystic ovary syndrome

    PubMed Central

    Sirmans, Susan M; Pate, Kristen A

    2014-01-01

    Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by irregular menses, hyperandrogenism, and polycystic ovaries. The prevalence of PCOS varies depending on which criteria are used to make the diagnosis, but is as high as 15%–20% when the European Society for Human Reproduction and Embryology/American Society for Reproductive Medicine criteria are used. Clinical manifestations include oligomenorrhea or amenorrhea, hirsutism, and frequently infertility. Risk factors for PCOS in adults includes type 1 diabetes, type 2 diabetes, and gestational diabetes. Insulin resistance affects 50%–70% of women with PCOS leading to a number of comorbidities including metabolic syndrome, hypertension, dyslipidemia, glucose intolerance, and diabetes. Studies show that women with PCOS are more likely to have increased coronary artery calcium scores and increased carotid intima-media thickness. Mental health disorders including depression, anxiety, bipolar disorder and binge eating disorder also occur more frequently in women with PCOS. Weight loss improves menstrual irregularities, symptoms of androgen excess, and infertility. Management of clinical manifestations of PCOS includes oral contraceptives for menstrual irregularities and hirsutism. Spironolactone and finasteride are used to treat symptoms of androgen excess. Treatment options for infertility include clomiphene, laparoscopic ovarian drilling, gonadotropins, and assisted reproductive technology. Recent data suggest that letrozole and metformin may play an important role in ovulation induction. Proper diagnosis and management of PCOS is essential to address patient concerns but also to prevent future metabolic, endocrine, psychiatric, and cardiovascular complications. PMID:24379699

  9. Polycystic ovary syndrome: symptomatology, pathophysiology, and epidemiology.

    PubMed

    Guzick, D

    1998-12-01

    Women with polycystic ovary syndrome seek health care for 3 major reasons: infertility, menstrual irregularity, and androgen excess. The infertility is associated with anovulation. The menstrual irregularity is typically chronic, beginning with menarche. Although amenorrhea may sometimes occur, the more common presentation is irregular bleeding characteristic of anovulation. Androgen excess may be manifested by varying degrees of hirsutism. Patients may also report acne. The rapid development of virilizing signs, such as deepening of the voice, increased muscle mass, and temporal balding, should prompt a search for a tumor and lead one away from a diagnosis of polycystic ovary syndrome. Typically treatment is directed at alleviating the symptoms: ovulation induction for infertility, oral contraceptives or a progestin for menstrual irregularity, and oral contraceptives or spironolactone for hirsutism. On the basis of recent epidemiologic data suggestive of increased cardiovascular risk among women with polycystic ovary syndrome, such treatment might be complemented by a long-term approach that addresses the underlying pathophysiology of insulin resistance. PMID:9855614

  10. Dexamethasone-suppression adrenal scintigraphy in hyperandrogenism: concise communication

    SciTech Connect

    Gross, M.D.; Freitas, J.E.; Swanson, D.P.; Woodbury, M.C.; Schteingart, D.E.; Beierwaltes, W.H.

    1981-01-01

    To assess the contribution of adrenal-derived androgens in women with hirsutism, adrenal scintigrams under dexamethasone suppression (DS) were performed on 35 women with increasing facial or body hair and irregular or absent menses. Based upon the DS regimen chosen (8 mg/d for 2 days or 4 md/d for 7 days before the injection of 6..beta..-(/sup 131/I)iodomethylnorcholesterol), three imaging patterns were identified. The first was the absence of uptake before 3 days (8-mg DS) or before 5 days (4-mg DS) after injection. This imaging pattern was seen in 17 of the 35 patients studied and was considered normal. The second pattern was bilateral uptake earlier than 3 days (8-mg DS regimen) or 5 days (4-mg DS) after injection. This was seen in 13 of the 35 patients and was interpreted as bilateral early visualization. Adrenal-vein catheterization performed on six patients with this pattern showed increased adrenal-vein testosterone. The third pattern, observed in five patients, was unilateral early visualization, which in four cases investigated to date was the result of an adrenocortical adenoma. This study confirms the adrenal cortex as a source of androgens in women with hirsutism and hyperandrogenism and demonstrates that DS adrenal scintigraphy can be utilized to identify those women in whom adrenal-derived androgens contribute to their hyperandrogenism.

  11. Polycystic ovary syndrome patients with high BMI tend to have functional disorders of androgen excess: a prospective study.

    PubMed

    Yuan, Chun; Liu, Xiaoqiang; Mao, Yundong; Diao, Feiyang; Cui, Yugui; Liu, Jiayin

    2016-05-01

    Biochemical or clinical changes of hyperandrogenism are important elements of polycystic ovary syndrome (PCOS). There is currently no consensus on the definition and diagnostic criteria of hyperandrogenism in PCOS. The aim of this study was to investigate the complex symptoms of hyperandrogenic disorders and the correlations between metabolism and hyperandrogenism in patients with PCOS from an outpatient reproductive medicine clinic in China. We conducted a case control study of 125 PCOS patients and 130 controls to evaluate differences in body mass index (BMI), total testosterone (TT), modified Ferriman-Gallwey hirsutism score, sex hormone binding globulin (SHBG), homeostasis model assessment-estimated insulin resistance (HOMA-IR) and free androgen index (FAI) between PCOS patients and controls and subgroups of PCOS. The prevalence of acne and hirsutism did not differ significantly between the hyperandrogenic and non-hyperandrogenic subgroup. Patients with signs of hyperandrogenism had significantly higher BMI (P < 0.05), but differences in TT, SHBG, FAI and waist/hip ratio were insignificant. The odds ratio of overweight was calculated for all PCOS patients. Our results suggest that PCOS patients with high BMI tend to have functional disorders of androgen excess; therefore, BMI may be a strong predictor of hyperandrogenism in PCOS. PMID:27526961

  12. Polycystic ovary syndrome patients with high BMI tend to have functional disorders of androgen excess: a prospective study

    PubMed Central

    Yuan, Chun; Liu, Xiaoqiang; Mao, Yundong; Diao, Feiyang; Cui, Yugui; Liu, Jiayin

    2016-01-01

    Abstract Biochemical or clinical changes of hyperandrogenism are important elements of polycystic ovary syndrome (PCOS). There is currently no consensus on the definition and diagnostic criteria of hyperandrogenism in PCOS. The aim of this study was to investigate the complex symptoms of hyperandrogenic disorders and the correlations between metabolism and hyperandrogenism in patients with PCOS from an outpatient reproductive medicine clinic in China. We conducted a case control study of 125 PCOS patients and 130 controls to evaluate differences in body mass index (BMI), total testosterone (TT), modified Ferriman-Gallwey hirsutism score, sex hormone binding globulin (SHBG), homeostasis model assessment-estimated insulin resistance (HOMA-IR) and free androgen index (FAI) between PCOS patients and controls and subgroups of PCOS. The prevalence of acne and hirsutism did not differ significantly between the hyperandrogenic and non-hyperandrogenic subgroup. Patients with signs of hyperandrogenism had significantly higher BMI (P < 0.05), but differences in TT, SHBG, FAI and waist/hip ratio were insignificant. The odds ratio of overweight was calculated for all PCOS patients. Our results suggest that PCOS patients with high BMI tend to have functional disorders of androgen excess; therefore, BMI may be a strong predictor of hyperandrogenism in PCOS. PMID:27526961

  13. [Functional significance of the serum/saliva testosterone ratio in various diseases].

    PubMed

    Navarro, M A; Huguet, J; Rosel, P; Rivera, A; Bonnin, M R; Blanco, A

    1991-12-01

    Serum/salivary testosterone ratio (ST/SlvT) expresses the relationship in absolute values between bound and unbound testosterone. This ST/SlvT ratio in supposedly healthy men (n = 25) and women (n = 72) and in patients with several disorders, prostatic carcinoma (n = 19), varicocele (n = 9) and hirsute women (n = 16), has been studied. Both serum and salivary testosterone were measured by an RIA method. ST/SlvT ratio values found in healthy men (78.4 +/- 30.9) did not differ significantly from values found in the varicocele group (111.1 +/- 49.3), but a significant difference (p less than 0.001) from those found in men with prostatic carcinoma (12.3 +/- 7.2) was observed. When the ST/SlvT ratio values obtained in healthy women (18.1 +/- 7.3) were compared with those obtained in hirsute women (1.56 +/- 5.7) no significant differences were observed. The results obtained may indicate the dissociation among the hormone transport, testosterone metabolic clearance and hormone secretion by the salivary glands. PMID:1812538

  14. A Modern Ampelography: A Genetic Basis for Leaf Shape and Venation Patterning in Grape1[C][W][OPEN

    PubMed Central

    Chitwood, Daniel H.; Ranjan, Aashish; Martinez, Ciera C.; Headland, Lauren R.; Thiem, Thinh; Kumar, Ravi; Covington, Michael F.; Hatcher, Tommy; Naylor, Daniel T.; Zimmerman, Sharon; Downs, Nora; Raymundo, Nataly; Buckler, Edward S.; Maloof, Julin N.; Aradhya, Mallikarjuna; Prins, Bernard; Li, Lin; Myles, Sean; Sinha, Neelima R.

    2014-01-01

    Terroir, the unique interaction between genotype, environment, and culture, is highly refined in domesticated grape (Vitis vinifera). Toward cultivating terroir, the science of ampelography tried to distinguish thousands of grape cultivars without the aid of genetics. This led to sophisticated phenotypic analyses of natural variation in grape leaves, which within a palmate-lobed framework exhibit diverse patterns of blade outgrowth, hirsuteness, and venation patterning. Here, we provide a morphometric analysis of more than 1,200 grape accessions. Elliptical Fourier descriptors provide a global analysis of leaf outlines and lobe positioning, while a Procrustes analysis quantitatively describes venation patterning. Correlation with previous ampelography suggests an important genetic component, which we confirm with estimates of heritability. We further use RNA-Seq of mutant varieties and perform a genome-wide association study to explore the genetic basis of leaf shape. Meta-analysis reveals a relationship between leaf morphology and hirsuteness, traits known to correlate with climate in the fossil record and extant species. Together, our data demonstrate a genetic basis for the intricate diversity present in grape leaves. We discuss the possibility of using grape leaves as a breeding target to preserve terroir in the face of anticipated climate change, a major problem facing viticulture. PMID:24285849

  15. The management of patients with polycystic ovary syndrome.

    PubMed

    Jayasena, Channa N; Franks, Stephen

    2014-10-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women. The syndrome is typified by its heterogeneous presentation, which includes hirsutism (a function of hypersecretion of ovarian androgens), menstrual irregularity and infertility (that is due to infrequent or absent ovulation). Furthermore, PCOS predisposes patients to metabolic dysfunction and an increased risk of type 2 diabetes mellitus (T2DM). The aetiology of the syndrome has a major genetic component. Obesity exacerbates the insulin resistance that is a feature of PCOS in many women and amplifies the clinical and biochemical abnormalities. In clinical practice, the choice of investigations to be done depends mainly on the presenting symptoms. The approach to management is likewise dependent on the presenting complaint. Symptoms of androgen excess (hirsutism, acne and alopecia) require cosmetic measures, suppression of ovarian androgen function and anti-androgen therapy, alone or in combination. Ovulation rate is improved by diet and lifestyle intervention in overweight individuals but induction of ovulation by, in the first instance, anti-estrogens is usually required. Monitoring of glucose is important in overweight women and/or those with a family history of T2DM. Metformin is indicated for women with impaired glucose tolerance but whether this drug is otherwise useful in women with PCOS remains debatable. PMID:25022814

  16. Polycystic ovary syndrome and prolactinoma association.

    PubMed

    Yavasoglu, Irfan; Kucuk, Mert; Coskun, Adil; Guney, Engin; Kadikoylu, Gurhan; Bolaman, Zahit

    2009-01-01

    Hyperprolactinemia is the most common pituitary hormone hypersecretion syndrome in both men and women. Polycystic ovary syndrome (PCOS) is one of the most common endocrinopathies affecting 5%-10% of reproductive age women. Here, we present a patient with irregular menses, obesity, hirsutism and infertility, and hyperprolactinemia who was diagnosed as PCOS and prolactinoma and admitted to our clinic. Prolactinoma and PCOS association is a rare condition. This 33-year-old woman was admitted to the internal medicine outpatient clinic for irregular menses, obesity, hirsutism and infertility, and hyperprolactinemia. Her laboratory results were as follows: prolactin was 74 ng/mL (normal range:1.8-20.3 ng/mL). Pelvic ultrasonography was correlated with polycystic ovary syndrome. Pituitary MRI showed 6x8 mm microadenoma at left half. Bromocriptine was started with 1.25 mg/day and increased to 5 mg/day. After six months of bromocriptine treatment her prolactin level was normal and no adenoma was detected in pituitary MRI. PCOS and prolactinoma association should be taken into account in PCOS cases with mild hyperprolactinoma. PMID:19367058

  17. [Hormones and hair growth].

    PubMed

    Trüeb, R M

    2010-06-01

    With respect to the relationship between hormones and hair growth, the role of androgens for androgenetic alopecia (AGA) and hirsutism is best acknowledged. Accordingly, therapeutic strategies that intervene in androgen metabolism have been successfully developed for treatment of these conditions. Clinical observations of hair conditions involving hormones beyond the androgen horizon have determined their role in regulation of hair growth: estrogens, prolactin, thyroid hormone, cortisone, growth hormone (GH), and melatonin. Primary GH resistance is characterized by thin hair, while acromegaly may cause hypertrichosis. Hyperprolactinemia may cause hair loss and hirsutism. Partial synchronization of the hair cycle in anagen during late pregnancy points to an estrogen effect, while aromatase inhibitors cause hair loss. Hair loss in a causal relationship to thyroid disorders is well documented. In contrast to AGA, senescent alopecia affects the hair in a diffuse manner. The question arises, whether the hypothesis that a causal relationship exists between the age-related reduction of circulating hormones and organ function also applies to hair and the aging of hair. PMID:20502852

  18. Acne - a potential skin marker of internal disease.

    PubMed

    Pace, Joseph L

    2015-01-01

    Polycystic ovary syndrome (PCOS) is the most prevalent endocrine disorder in adult women. Hyperandrogenism is the crux of the pathogenesis of both acne and hirsutism, the most frequent clinical presentations of the syndrome. The chronic anovulation that may occur, often but not always associated with enlarged cystic ovaries, has long been recognized as an important feature of PCOS. In recent years major changes have occurred with regard to PCOS: Although management of the common cutaneous manifestations, mainly acne, hirsutism, alopecia, and acanthosis nigricans, remains strictly within the realm of daily dermatologic practice, the pendulum is shifting toward greater awareness of the longer-term systemic implications of PCOS, with emphasis on the unique opportunity and privileged position of the dermatologist to diagnose this potentially serious problem at an early stage, when effective long-term treatment can be instituted. Patients need to be advised that PCOS cannot be cured but can be controlled. Management should involve a multidisciplinary team with emphasis on lifestyle change, insulin sensitizing agents, androgen blockers, and attention to specific cutaneous manifestations. PMID:26321405

  19. A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study

    PubMed Central

    Hosseininejad, Seyyed-Mohsen; Bazrafshan, Behnaz

    2016-01-01

    As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects. CdLS is a genetic syndrome affecting 1/10000-1/60000 neonates with unknown genetic basis. Delayed growth and development, hirsute, structural anomalies of the limbs and distinct facial dimorphism are considered as its main clinical characteristics. Introducing CdLS cases of different ethnic backgrounds could add distinctions to the phenotypic picture of the syndrome and be useful in diagnosis. Early diagnosis and decreased death rates are achievable through enhanced awareness on this syndrome. We present here a 45-day-old girl, as the first case of Cornelia in Golestan (Northern Iran), referred to our hospital with the symptoms as mentioned above. PMID:27042551

  20. Mood disorders and quality of life in polycystic ovary syndrome.

    PubMed

    Podfigurna-Stopa, Agnieszka; Luisi, Stefano; Regini, Cristina; Katulski, Krzysztof; Centini, Gabriele; Meczekalski, Blazej; Petraglia, Felice

    2015-06-01

    Polycystic ovary syndrome (PCOS) affects 5-10% of the population of women. The exact etiology of PCOS remains unclear, but it is believed to result from complex interactions between genetic, behavioral and environmental factors. The spectrum of its symptoms such as hirsutism, skin problems, obesity and finally infertility has a huge negative impact on the individuals' psychological and interpersonal functioning. PCOS symptoms can lead to significant deterioration in quality of life and be highly stressful negatively affecting psychological well-being and sexuality. Fear symptoms like palpitation, being out of breath and tension might be caused by many somatic diseases. Moreover, detection and continuous thinking about illness can lead to significant negative impact on individual functioning in society. PCOS may be a factor potentially favoring the occurrence of mood disorders and depression. Biological, social and psychological consequences of PCOS among women of reproductive age are opening a new perspective on management of women's health in these patients. PMID:26204044

  1. Eyelash Transplantation Using Leg Hair by Follicular Unit Extraction

    PubMed Central

    2015-01-01

    Summary: Fine hairs of the head and nape areas have been used as donor sources in eyelash transplantation but are straight, coarse, and grow rapidly, requiring frequent eyelash maintenance. This is the first reported case of eyelash transplantation by follicular unit extraction using leg hair as a donor source; findings were compared with that of another patient who underwent a similar procedure with donor hairs from the nape area. Although both patients reported marked improvement in fullness of eyelashes within 3 months postsurgery, the transplanted leg hair eyelashes required less frequent trimming (every 5–6 weeks) compared with nape hair eyelashes (every 2–3 weeks). Additionally, in leg hair eyelashes, the need for perming to sustain a natural looking eyelash curl was eliminated. Eyelash transplantation using leg donor hair in hirsute women may result in good cosmetic outcomes and require less maintenance compared with nape donor hair. PMID:25878935

  2. Three new species of Misionella from northern Brazil (Araneae, Haplogynae, Filistatidae).

    PubMed

    Brescovit, Antonio D; Magalhaes, Ivan L F; Cizauskas, Igor

    2016-01-01

    Three new species of the genus Misionella are described from Brazil: Misionella carajas sp. n. and Misionella aikewara sp. n. from caves in the states of Pará and Tocantins and Misionella pallida sp. n. from natural and synanthropic dry areas in the states of Piauí, Maranhão, Rio Grande do Norte and Bahia. These species seem to belong to a distinct group within the genus; the males have an elongate palpal tibia and bulb, a pair of characteristic and hirsute macrosetae in the second metatarsus and the females have internal genitalia with only one pair of spermathecae, with relatively short ducts, lacking the auxiliary receptacles. Their phylogenetic placement and geographic distribution are briefly discussed. PMID:27408535

  3. Iatrogenic diabetes mellitus during ACTH therapy in an infant with West syndrome.

    PubMed

    Calcaterra, Valeria; Bottazzi, Andrea; Tzialla, Chrissoula; D'Arrigo, Stefano; Larizza, Daniela

    2011-12-01

    West syndrome is a rare epileptic disease of infancy, typified by an association of characteristic spasms, hypsarrhythmia on electroencephalography and severe psychomotor retardation or deterioration. Adrenocorticotropic hormone (ACTH) is the current first-line therapy for West syndrome despite the fact that ACTH therapy is associated with various adverse effects. We describe a rare case of iatrogenic diabetes mellitus during ACTH therapy in a patient with symptomatic West syndrome. The infant had cushingoid facies, hirsutism and biochemical evidence of diabetes due to excessive glucocorticoid production with hyperplasia of both adrenal glands at ultrasound examination, without mineralocorticoid excess; in addition, he presented also short-term weight gain, marked electrolyte disturbances, hypokalemic alkalosis and infections. When ACTH is used to treat patients with West syndrome, it is necessary to follow glycemic levels until to the end of therapy. PMID:21253781

  4. Three cases of macroprolactinaemia.

    PubMed Central

    Olukoga, A O; Dornan, T L; Kane, J W

    1999-01-01

    A woman with hirsutism but otherwise symptom-free was found to have a raised serum prolactin and a pituitary microadenoma. The hyperprolactinaemia persisted despite bromocriptine therapy and subsequent pituitary surgery, which yielded a non-functioning adenoma. After a further 15 years with persistent hyperprolactinaemia but no symptoms, macroprolactinaemia was diagnosed. Such cases might account for part of the failure rate of pituitary microsurgery for prolactinoma. Testing for macroprolactinaemia is advisable in a woman with hyperprolactinaemia, especially if her ovulatory cycle is normal. Two other cases are reported in which macroprolactinaemia was associated with menstrual disturbances and other hormonal effects: in these, treatment with dopamine agonists suppressed the hyperprolactinaemia and restored normal menstrual cycles. Images p344-a PMID:10615271

  5. Metformin - For the dermatologist.

    PubMed

    Bubna, Aditya Kumar

    2016-01-01

    Metformin though primarily an antidiabetic drug, has found to play an important role in a number of cutaneous disorders. Because of its role in improving hyperinsulinemia, it has proven beneficial in hormonal acne, hidradenitis suppurativa (HS) and acanthosis nigricans. Its antiandrogenic properties further serve as an add-on to the conventional management of hirsutism associated with polycystic ovarian syndrome. Very recently, systemic usage of metformin for psoriasis and cutaneous malignancies has shown promising results. Interestingly, metformin has also been topically used in hyperpigmentary disorders with pertinent levels of improvement and happens to be the most recent addition to the list of dermatologic indications. Though an oral hypoglycemic agent to begin with, metformin today has proven to be a boon for dermatologists. PMID:26997714

  6. The Role of Androgen and Androgen Receptor in the Skin-Related Disorders

    PubMed Central

    Lai, Jiann-Jyh; Chang, Philip; Lai, Kuo-Pao; Chen, Lumin; Chang, Chawnshang

    2013-01-01

    Androgen and androgen receptor (AR) may play important roles in several skin related diseases, such as androgenetic alopecia and acne vulgaris. Current treatments for these androgen/AR-involved diseases, which target the synthesis of androgens or prevent its binding to AR, can cause significant adverse side effects. Based on the recent studies using AR knockout mice, it has been suggested that AR and androgens play distinct roles in the skin pathogenesis, and AR seems to be a better target than androgens for the treatment of these skin diseases. Here we review recent studies of androgen/AR roles in several skin-related disorders, including acne vulgaris, androgenetic alopecia, and hirsutism, as well as cutaneous wound healing. PMID:22829074

  7. [Spironolactone in dermatological treatment. On and off label indications].

    PubMed

    Salavastru, C M; Fritz, K; Tiplica, G S

    2013-10-01

    There are no currently FDA/EMEA-approved dermatologic indications for spironolactone and its off-label uses are, among others, female acne, female pattern hair loss, hidradenitis suppurativa or hirsutism. The rationale behind these relays on the mechanism of action of spironolactone which interferes with the hormone-controlled sebum and sweat gland secretion and with androgen stimulated hair growth. The average dose used by the dermatologits is 50-100 mg daily. It should not be used in pregnant and lactating women and it is not used in men due to the risk of feminization. Although further studies to assess its efficacy and safety are necessary, currently spironolactone is regarded as a useful tool in the dermatologic treatment armamentarium. PMID:24150826

  8. Hormonal therapy for acne: why not as first line therapy? facts and controversies.

    PubMed

    Katsambas, Andreas D; Dessinioti, Clio

    2010-01-01

    Standard systemic therapeutic agents used in acne include oral antimicrobials, isotretinoin, and hormonal agents. Appropriate patient selection is the key to decide when to use hormonal agents as first-line therapy as well as to achieve optimal results. Indications of hormonal therapy in acne in girls and women include proven ovarian or adrenal hyperandrogenism, recalcitrant acne, acne not responding to repeated courses of oral isotretinoin, acne tarda, polycystic ovary syndrome, or the presence of clinical signs of hyperandrogenism such as androgenic alopecia or the presence of the seborrhea, acne, hirsutism, alopecia syndrome. We describe the hormonal agents currently available for acne treatment, discuss their indications and contraindications, and address the question of whether they may be used as a first-line therapy in acne. PMID:20082945

  9. Use of spironolactone in dermatology.

    PubMed

    Rathnayake, Deepani; Sinclair, Rodney

    2010-01-01

    Spironolactone has been used as a potassium-sparing diuretic for more than 30 years. It is a synthetic 17-lactone steroid and primarily acts as an aldosterone antagonist. Since the accidental discovery of its antiandrogenic effects, it has been used in the treatment of many dermatologic conditions in which androgen plays a role in the pathogenesis. Antiandrogenic effects of spironolactone are exerted by reducing testosterone production and inhibiting its action on the target tissues. Spironolactone is used as a primary medical treatment for hirsutism and female pattern hair loss. Continuous treatment is required to sustain the effect. It is an effective alternative treatment for acne in women. It has the benefit of a long-term safety profile. Spironolactone should not be used in pregnancy due to its teratogenic effects and is not used in men due to the risk of feminization. PMID:21413648

  10. Metformin - For the dermatologist

    PubMed Central

    Bubna, Aditya Kumar

    2016-01-01

    Metformin though primarily an antidiabetic drug, has found to play an important role in a number of cutaneous disorders. Because of its role in improving hyperinsulinemia, it has proven beneficial in hormonal acne, hidradenitis suppurativa (HS) and acanthosis nigricans. Its antiandrogenic properties further serve as an add-on to the conventional management of hirsutism associated with polycystic ovarian syndrome. Very recently, systemic usage of metformin for psoriasis and cutaneous malignancies has shown promising results. Interestingly, metformin has also been topically used in hyperpigmentary disorders with pertinent levels of improvement and happens to be the most recent addition to the list of dermatologic indications. Though an oral hypoglycemic agent to begin with, metformin today has proven to be a boon for dermatologists. PMID:26997714

  11. Arg924X homozygous mutation in insulin receptor gene in a Tunisian patient with Donohue syndrome.

    PubMed

    Azzabi, Ons; Jilani, Houweyda; Rejeb, Imen; Siala, Nadia; Elaribi, Yasmina; Hizem, Syrine; Selmi, Ines; Halioui, Sonia; Lascols, Olivier; Jemaa, Lamia Ben; Maherzi, Ahmed

    2016-06-01

    Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We describe a new case of Donohue syndrome born at 37 weeks' gestation of unrelated parents and presented with intra-uterine growth retardation, nipple hypertrophy, macropenis, distended abdomen, hirsutism and dysmorphic features. The clinical course showed failure to thrive, and episodes of alternating hypoglycemia and hyperglycemia. Laboratory tests revealed direct hyperbilirubinemia. The diagnosis of Donohue syndrome was established based on the above clinical characteristics and determination of the INSR mutation. He was found to have homozygous nonsense mutation c. 2270 C>T (Arg924X) at exon 14 of the INSR gene. He later developed enterocolitis and died at 3 months old. Prenatal diagnosis was performed for the family via chorionic villous biopsy. We try to explain gastrointestinal dysfunction seen in our patient. PMID:26974131

  12. [The endocrine mask of a developing process of schizophrenia--case study].

    PubMed

    Smiarowska, Małgorzata; Krzyzanowska-Swiniarska, Barbara; Lisiecka, Agata; Letkiewicz, Magdalena; Pilarska, Krystyna; Horodnicki, Jan

    2004-01-01

    In this research psychic and somatic symptoms related to disturbances of hypothalamus-hypophysis-peripheral regulation which may occur in the schizophrenic process were analysed. Authors discussed the problem of relations between hypothalamus neuroregulation and pathogenesis of endocrine disturbances which suggest the organic cause of obesity, hirsutism and secondary amenorrhea among women diagnosed with paranoid schizophrenia. Actual antipsychotic pharmacological treatment, including some side-effects: the metabolic (obesity) and the endocrine (hyperprolactinemia) ones were considered. The authors conclude that endocrine disorders which are connected with hypothalamus disfunction (sleeping, eating and reproductive functions) may reach the psychotic symptoms and treating them influences at the same time some endocrine changes. The estimation of PRL release in a test of stimulation with metoclopramide can be a sensitive (though not specific) test of dopaminergic activity in tuberous--infundibulum pathway and may be used to control the treatment. PMID:15523934

  13. Congenital adrenal hyperplasia

    PubMed Central

    Dessinioti, Cleo; Katsambas, Andreas

    2009-01-01

    Congenital adrenal hyperplasia consists of a heterogenous group of inherited disorders due to enzymatic defects in the biosynthetic pathway of cortisol and/or aldosterone. This results in glucocorticoid deficiency, mineralocorticoid deficiency, and androgen excess. 95% of CAH cases are due to 21-hydroxylase deficiency. Clinical forms range from the severe, classical CAH associated with complete loss of enzyme function, to milder, non-classical forms (NCAH). Androgen excess affects the pilosebaceous unit, causing cutaneous manifestations such as acne, androgenetic alopecia and hirsutism. Clinical differential diagnosis between NCAH and polycystic ovary syndrome may be difficult. In this review, the evaluation of patients with suspected CAH, the clinical presentation of CAH forms, with emphasis on the cutaneous manifestations of the disease, and available treatment options, will be discussed. PMID:22523607

  14. [The ovarian origin of hiperandrogenism in the postmenopausal woman the adrenal adenoma--a case report].

    PubMed

    Mrozińska, Sandra; Kiałka, Marta; Doroszewska, Katarzyna; Milewicz, Tomasz; Jach, Robert

    2015-01-01

    Hyperandrogenism is a clinical condition characterized by excessive secretion of male sex hormones. An excess amount of androgens in women is manifested by symptoms of defeminization and masculinization. Hormonally active adrenal and ovarian tumors and non-tumor causes must be considered in the differential diagnosis. The authors describe the case of a 77-year-old patient who had hirsutism and reduction of the timbre of the voice. At the beginning she was suspected to have adrenal hyperandrogenism because of the tumor in the adrenal gland. Then adrenalectomy was conducted but it did not lead to alleviate symptoms. A MRI of the pelvis revealed a change of appendages projection and the patient underwent the total hysterectomy. The normalization of testosterone levels as well as reduction of the symptoms was observed after the operation. Finally, the ovary etiology of hyperandrogenism was confirmed. This case report is an example of difficulties in recognition the etiology of hyperandrogenism. PMID:26817354

  15. Peroxisome proliferator-activated receptors (PPARs) and PPAR agonists: the 'future' in dermatology therapeutics?

    PubMed

    Gupta, Mrinal; Mahajan, Vikram K; Mehta, Karaninder S; Chauhan, Pushpinder S; Rawat, Ritu

    2015-11-01

    Peroxisome proliferator-activated receptors (PPARs) are nuclear hormone receptors and comprise three different isoforms namely PPARα, PPARγ, and PPARβ/δ with PPARβ/δ being the predominant subtype in human keratinocytes. After binding with specific ligands, PPARs regulate gene expression, cell growth and differentiation, apoptosis, inflammatory responses, and tumorogenesis. PPARs also modulate a wide variety of skin functions including keratinocyte proliferation, epidermal barrier formation, wound healing, melanocyte proliferation, and sebum production. Recent studies have shown the importance of PPARs in the pathogenesis of many dermatological disorders. Clinical trials have suggested possible role of PPAR agonists in the management of various dermatoses ranging from acne vulgaris, psoriasis, hirsutism, and lipodystrophy to cutaneous malignancies including melanoma. This article is intended to be a primer for dermatologists in their understanding of clinical relevance of PPARs and PPAR agonists in dermatology therapeutics. PMID:25986745

  16. Cornelia de Lange syndrome: a case report.

    PubMed

    Grau Carbó, Joaquim; López Jiménez, Julian; Giménez Prats, Maria José; Sànchez Molins, Meritxell

    2007-10-01

    Cornelia de Lange is a genetic syndrome which affects between 1/10.000 and 1/60.000 neonates, but its genetic bases are still not clear. Its principal clinical characteristics are the delay in growth and development, hirsute, structural anomalies in the limbs and distinctive facial characteristic. Dental problems are frequent and include: ogival palate, micrognathia, dental malalignment, delayed teething, microdontic teeth, periodontal disease and dental erosion produced by gastric reflux. Discussed is the case of a 29 year old patient affected by the syndrome in question, which presents the principal clinical characteristics. The patient's general state of health is acceptable, without cardiac or respiratory alterations. The intraoral exploration shows policaries, periodontal disease, persistence of the temporal teeth and ectopic molars. After completing the necessary pre-operatory preparations, the entire odontological treatment was carried out under general aesthesia, due to the patient's total lack of collaboration. PMID:17909511

  17. A snapshot of the lives of women with polycystic ovary syndrome: A photovoice investigation.

    PubMed

    Williams, Sophie; Sheffield, David; Knibb, Rebecca C

    2016-06-01

    Polycystic ovary syndrome affects 6  percent of women. Symptoms include hirsutism, acne, and infertility. This research explores the impact of polycystic ovary syndrome on women's lives using photovoice. Nine participants photographed objects related to their quality of life and made diary entries explaining each photograph. Three themes emerged from thematic analysis of the diaries: control (of symptoms and polycystic ovary syndrome controlling their lives), perception (of self, others, and their situation), and support (from relationships, health care systems, and education). These findings illuminate positive aspects of living with polycystic ovary syndrome and the role pets and social networking sites play in providing support for women with polycystic ovary syndrome. PMID:25205774

  18. Sequelae of radiation facial epilation (North American Hiroshima maiden syndrome)

    SciTech Connect

    Rosen, I.B.; Walfish, P.G. )

    1989-12-01

    Radiation for benign problems of the head and neck area has been uniformly recognized as unacceptable practice. This includes epilation for facial hirsutism. Twelve such patients, recently encountered, have characteristic radiodermatitis facies and have demonstrated multisite neoplastic involvement--including skin, thyroid, parathyroid, salivary gland, oral cavity, facial skeleton, and breast--and have also undergone extensive dermatologic treatment of complications of radiodermatitis. There was one cancer death, and three patients are alive with cancer. Such patients have a superficial resemblance to the Hiroshima maiden group of young women who survived atomic bombing and experienced severe facial burns, necessitating extensive plastic surgery. As atomic survivors they are at increased risk for cancer of thyroid, salivary gland, lung, breast, bone marrow, and gastrointestinal tract. The North American Hiroshima maiden should warrant easy clinical recognition and require lifetime scrutiny for multisite neoplastic disease.

  19. A case of androgen-secreting adrenal carcinoma with non-classical congenital adrenal hyperplasia.

    PubMed

    Varma, Tarun; Panchani, Roopal; Goyal, Ashutosh; Maskey, Robin

    2013-10-01

    Androgen excess is one of the most common and disturbing endocrine disorder of reproductive-aged women, affecting approximately 7% of this population Androgen excess results in the development of androgenic features in the women affected, with the development of hirsutism, androgenic alopecia, ovulatory dysfunction, and, if extreme, even virilization and masculinization. Adrenocortical carcinoma (ACC) is a rare malignancy accounting for 0.02% of all annual cancers reported. About 60% are functional tumors secreting hormones, with its consequent clinical manifestations, the Cushing's syndrome due to cortisone, virilization due to androgens, feminization due to estrogens, or hypertension due to aldosterone. Adrenal tumors that secrete androgens exclusively are extremely rare. Here, we present a rare case of androgen-secreting adrenocortical carcinoma with non-classical congenital adrenal hyperplasia. PMID:24251173

  20. Cushing’s disease

    PubMed Central

    2012-01-01

    Cushing’s disease, or pituitary ACTH dependent Cushing’s syndrome, is a rare disease responsible for increased morbidity and mortality. Signs and symptoms of hypercortisolism are usually non specific: obesity, signs of protein wasting, increased blood pressure, variable levels of hirsutism. Diagnosis is frequently difficult, and requires a strict algorithm. First-line treatment is based on transsphenoidal surgery, which cures 80% of ACTH-secreting microadenomas. The rate of remission is lower in macroadenomas. Other therapeutic modalities including anticortisolic drugs, radiation techniques or bilateral adrenalectomy will thus be necessary to avoid long-term risks (metabolic syndrome, osteoporosis, cardiovascular disease) of hypercortisolism. This review summarizes potential pathophysiological mechanisms, diagnostic approaches, and therapies. PMID:22710101

  1. Fine-needle aspiration cytology of ovarian steroid cell tumor: A rare case report.

    PubMed

    Agrawal, Nidhi; Vardhan, Harsh; Khokhar, Singh; Rai, Naresh; Saxena, Rajeev; Riyaz, Shahida

    2015-01-01

    Steroid cell tumors (SCTs) of the ovary are a rare subgroup of sex cord tumors that account for less than 0.1% of all ovarian tumors. These tumors can produce steroids, especially testosterone, which produces symptoms such as hirsutism, amenorrhea/oligomenorrhea, and male patterned voice. For evaluation of the androgen excess, testosterone and dehydroepiandrosterone sulfate (DHEA-S) are the first laboratory tests to be measured. Abdominal ultrasound and magnetic resonance imaging (MRI) are useful radiologic imaging techniques. Although SCTs are generally benign, the risk of malignant transformation is always present. Surgical excision of tumor is the most important and hallmark treatment. The present case signifies the early preoperative diagnosis of a virilizing SCT, based on cytological features and its careful correlation with clinicopathological and radiological findings. PMID:26811582

  2. Acne-associated syndromes: models for better understanding of acne pathogenesis.

    PubMed

    Chen, W; Obermayer-Pietsch, B; Hong, J-B; Melnik, B C; Yamasaki, O; Dessinioti, C; Ju, Q; Liakou, A I; Al-Khuzaei, S; Katsambas, A; Ring, J; Zouboulis, C C

    2011-06-01

    Acne, one of the most common skin disorders, is also a cardinal component of many systemic diseases or syndromes. Their association illustrates the nature of these diseases and is indicative of the pathogenesis of acne. Congenital adrenal hyperplasia (CAH) and seborrhoea-acne-hirsutism-androgenetic alopecia (SAHA) syndrome highlight the role of androgen steroids, while polycystic ovary (PCO) and hyperandrogenism-insulin resistance-acanthosis nigricans (HAIR-AN) syndromes indicate insulin resistance in acne. Apert syndrome with increased fibroblast growth factor receptor 2 (FGFR2) signalling results in follicular hyperkeratinization and sebaceous gland hypertrophy in acne. Synovitis-acne-pustulosis-hyperostosis-osteitis (SAPHO) and pyogenic arthritis-pyoderma gangrenosum-acne (PAPA) syndromes highlight the attributes of inflammation to acne formation. Advances in the understanding of the manifestation and molecular mechanisms of these syndromes will help to clarify acne pathogenesis and develop novel therapeutic modalities. PMID:21198949

  3. Acne as a chronic systemic disease.

    PubMed

    Zouboulis, Christos C

    2014-01-01

    Acne is the most common skin disorder. In the majority of cases, acne is a disease that changes its skin distribution and severity over time; moreover, it can be a physically (scar development) and psychologically damaging condition that lasts for years. According to its clinical characteristics, it can be defined as a chronic disease according to the World Health Organization criteria. Acne is also a cardinal component of many systemic diseases or syndromes, such as congenital adrenal hyperplasia, seborrhea-acne-hirsutism-androgenetic alopecia syndrome, polycystic ovarian syndrome, hyperandrogenism-insulin resistance-acanthosis nigricans syndrome, Apert syndrome, synovitis-acne-pustulosis-hyperostosis-osteitis syndrome, and pyogenic arthritis-pyoderma gangrenosum-acne syndrome. Recent studies on the Ache hunter gatherers of Paraguay detected the lack of acne in association with markedly lower rates of obesity, diabetes mellitus, hyperlipidemia, and cardiovascular diseases, a finding that indicates either a nutritional or a genetic background of this impressive concomitance. PMID:24767186

  4. Insulin Resistance and Skin Diseases

    PubMed Central

    Napolitano, Maddalena; Megna, Matteo; Monfrecola, Giuseppe

    2015-01-01

    In medical practice, almost every clinician may encounter patients with skin disease. However, it is not always easy for physicians of all specialties to face the daily task of determining the nature and clinical implication of dermatologic manifestations. Are they confined to the skin, representing a pure dermatologic event? Or are they also markers of internal conditions relating to the patient's overall health? In this review, we will discuss the principal cutaneous conditions which have been linked to metabolic alterations. Particularly, since insulin has an important role in homeostasis and physiology of the skin, we will focus on the relationships between insulin resistance (IR) and skin diseases, analyzing strongly IR-associated conditions such as acanthosis nigricans, acne, and psoriasis, without neglecting emerging and potential scenarios as the ones represented by hidradenitis suppurativa, androgenetic alopecia, and hirsutism. PMID:25977937

  5. Diagnosis of hyperandrogenism: biochemical criteria.

    PubMed

    Stanczyk, Frank Z

    2006-06-01

    Biochemical derangements in ovarian, adrenal, and peripheral androgen production and metabolism play an important role in underlying causes of hyperandrogenism. Specific diagnostic serum markers such as testosterone (total) and dehydroepiandrosterone sulfate (DHEAS), respectively, may be helpful in the diagnosis of ovarian and adrenal hyperandrogenism, respectively. Validated immunoassays or mass spectrometry assays should be used to quantify testosterone, DHEAS and other principal androgens. Free testosterone measurements, determined by equilibrium dialysis or the calculated method, are advocated for routine evaluation of more subtle forms of hyperandrogenism. The skin, with its pilosebaceous units (PSUs), is an important site of active androgen production. A key regulator in PSUs is 5alpha-reductase, which transforms testosterone or androstenedione to dihydrotestosterone (DHT). DHT in blood is not effective in indicating the presence of hyperandrogenism. However, distal metabolites of DHT have been shown to be good markers of clinical manifestations of hirsutism, acne and alopecia. Assays for these peripheral markers need improvement for routine clinical testing. PMID:16772150

  6. Polycystic ovary syndrome: a common reproductive and metabolic disorder necessitating early recognition and treatment.

    PubMed

    Futterweit, Walter

    2007-12-01

    Patients who have polycystic ovary syndrome (PCOS) present with infertility, recurrent miscarriages, menstrual irregularities, hirsutism, and acne. Many also have metabolic and hormonal abnormalities that can significantly increase risk for coronary artery disease, type 2 diabetes mellitus, and endometrial carcinoma. PCOS patients should be screened for obstructive sleep apnea. Early recognition may reverse physical signs of the disease, while correcting the metabolic abnormalities that can pose significant health risk if untreated. Although lifestyle modification and pharmacotherapy are used to treat PCOS, there are few long-term outcome data regarding benefits of metabolic interventional strategies. Insulin sensitizers can improve ovulatory function, lower insulin resistance, lower androgen levels, and increase the likelihood of becoming pregnant. Further studies should yield other treatment options. PMID:18061817

  7. Three new species of Misionella from northern Brazil (Araneae, Haplogynae, Filistatidae)

    PubMed Central

    Brescovit, Antonio D.; Magalhaes, Ivan L. F.; Cizauskas, Igor

    2016-01-01

    Abstract Three new species of the genus Misionella are described from Brazil: Misionella carajas sp. n. and Misionella aikewara sp. n. from caves in the states of Pará and Tocantins and Misionella pallida sp. n. from natural and synanthropic dry areas in the states of Piauí, Maranhão, Rio Grande do Norte and Bahia. These species seem to belong to a distinct group within the genus; the males have an elongate palpal tibia and bulb, a pair of characteristic and hirsute macrosetae in the second metatarsus and the females have internal genitalia with only one pair of spermathecae, with relatively short ducts, lacking the auxiliary receptacles. Their phylogenetic placement and geographic distribution are briefly discussed. PMID:27408535

  8. [Skin diseases associated with obesity in children].

    PubMed

    Lau, K; Höger, P H

    2013-04-01

    While the impact of obesity on diabetes, cardiovascular disease and carcinoma development has been studied extensively, only little attention has been paid to its influence on the skin. Obesity alters the skin barrier, can induce skin manifestations, and worsens existing skin diseases like psoriasis. Cutaneous manifestations of obesity may be pseudoacanthosis nigricans, fibroma pendulans (skin tags, fibroepithelial polyps) and striae distensae. Obesity is also associated with hyperandrogenism in women and girls, promoting acne vulgaris, hirsutism, and androgenetic alopecia. In addition, there is a pathogenic association between obesity and psoriasis: the release of pro-inflammatory factors from fat tissue results in the worsening of psoriasis; an association between the severity of psoriasis and the body mass index has been shown. Obesity promotes skin infections like erysipelas and intertrigo. PMID:23529600

  9. Polycystic ovary syndrome: update on diagnosis and treatment.

    PubMed

    Setji, Tracy L; Brown, Ann J

    2014-10-01

    Polycystic ovary syndrome is now a well-recognized condition affecting 6%-25% of reproductive-aged women, depending on the definition. Over the past 3 decades, research has launched it from relative medical obscurity to a condition increasingly recognized as common in internal medicine practices. It affects multiple systems, and requires a comprehensive perspective on health care for effective treatment. Metabolic derangements and associated complications include insulin resistance and diabetes, hyperlipidemia, hypertension, fatty liver, metabolic syndrome, and sleep apnea. Reproductive complications include oligo-/amenorrhea, sub-fertility, endometrial hyperplasia, and cancer. Associated psychosocial concerns include depression and disordered eating. Additionally, cosmetic issues include hirsutism, androgenic alopecia, and acne. This review organizes this multi-system approach around the mnemonic "MY PCOS" and discusses evaluation and treatment options for the reproductive, cosmetic, and metabolic complications of this condition. PMID:24859638

  10. A Case Report of Cornelia De Lange Syndrome in Northern Iran; A Clinical and Diagnostic Study.

    PubMed

    Hosseininejad, Seyyed-Mohsen; Bazrafshan, Behnaz; Alaee, Ehsan

    2016-02-01

    As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects. CdLS is a genetic syndrome affecting 1/10000-1/60000 neonates with unknown genetic basis. Delayed growth and development, hirsute, structural anomalies of the limbs and distinct facial dimorphism are considered as its main clinical characteristics. Introducing CdLS cases of different ethnic backgrounds could add distinctions to the phenotypic picture of the syndrome and be useful in diagnosis. Early diagnosis and decreased death rates are achievable through enhanced awareness on this syndrome. We present here a 45-day-old girl, as the first case of Cornelia in Golestan (Northern Iran), referred to our hospital with the symptoms as mentioned above. PMID:27042551

  11. Case Report: Atypical Cornelia de Lange Syndrome.

    PubMed

    Leanza, Vito; Rubbino, Gabriella; Leanza, Gianluca

    2014-01-01

    Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation. We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy. PMID:26834972

  12. Clinical Guidelines for the Diagnosis and Treatment of Cushing's Disease in Korea

    PubMed Central

    Hur, Kyu Yeon; Kim, Jung Hee; Kim, Byung Joon; Kim, Min-Seon; Lee, Eun Jig

    2015-01-01

    Cushing's disease (CD) is a rare disorder characterized by the overproduction of adrenocorticotropic hormone due to a pituitary adenoma that ultimately stimulates excessive cortisol secretion from the adrenal glands. Prior to the detection of pituitary adenomas, various clinical signs of CD such as central obesity, moon face, hirsutism, and facial plethora are usually already present. Uncontrolled hypercortisolism is associated with metabolic, cardiovascular, and psychological disorders that result in increased mortality. Hence, the early detection and treatment of CD are not only important but mandatory. Because its clinical manifestations vary from patient to patient and are common in other obesity-related conditions, the precise diagnosis of CD can be problematic. Thus, the present set of guidelines was compiled by Korean experts in this field to assist clinicians with the screening, diagnoses, and treatment of patients with CD using currently available tests and treatment modalities. PMID:25827452

  13. Case Report: Atypical Cornelia de Lange Syndrome

    PubMed Central

    Leanza, Vito; Rubbino, Gabriella; Leanza, Gianluca

    2015-01-01

    Cornelia de Lange Syndrome (CdLS) (also called Bushy Syndrome or Amsterdam dwarfism), is a genetic disorder that can lead to several alterations. This disease affects both physical and neuropsychiatric development. The various abnormalities include facial dysmorphia (arched eyebrows, synophrys, depressed nasal bridge, long philtrum, down-turned angles of the mouth), upper-extremity malformations, hirsutism, cardiac defects, and gastrointestinal alterations. The prevalence of this syndrome is approximately one per 15,000. Ultrasound is not the perfect means to diagnose CdLS, however, many abnormalities can be detected prenatally by scrupulous image observation. We report an atypical CdLS case characterized by increased nuchal translucency in the first trimester, normal karyotype, saddle nose, micrognathia with receding jaw, low set ears, facies senilis, arthrogryposis of the hands, absence of the Aranzio ductus venous, dilatation of gallbladder and bowel, a unique umbilical artery, increased volume of amniotic fluid, and intrauterine growth retardation ending with the interruption of pregnancy. PMID:26834972

  14. ‘A Wonderfull Monster Borne in Germany’: Hairy Girls in Medieval and Early Modern German Book, Court and Performance Culture*

    PubMed Central

    Katritzky, MA

    2014-01-01

    Human hirsuteness, or pathological hair growth, can be symptomatic of various conditions, including genetic mutation or inheritance, and some cancers and hormonal disturbances. Modern investigations into hirsuteness were initiated by nineteenth-century German physicians. Most early modern European cases of hypertrichosis (genetically determined all-over body and facial hair) involve German-speaking parentage or patronage, and are documented in German print culture. Through the Wild Man tradition, modern historians routinely link early modern reception of historical hypertrichosis cases to issues of ethnicity without, however, recognising early modern awareness of links between temporary hirsuteness and the pathological nexus of starvation and anorexia. Here, four cases of hirsute females are reconsidered with reference to this medical perspective, and to texts and images uncovered by my current research at the Herzog August Library and German archives. One concerns an Italian girl taken to Prague in 1355 by the Holy Roman Empress, Anna von Schweidnitz. Another focuses on Madeleine and Antonietta Gonzalez, daughters of the ‘Wild Man’ of Tenerife, documented at German courts in the 1580s. The third and fourth cases consider the medieval bearded Sankt Kümmernis (also known as St Wilgefortis or St Uncumber), and the seventeenth-century Bavarian fairground performer Barbara Urslerin. Krankhafter menschlicher Hirsutismus kann aufgrund unterschiedlicher Ursachen auftreten, zu denen u.a. genetische Veränderungen und Vererbung, verschiedene Krebserkrankungen und hormonelle Störungen gehören. Die moderne Hirsutismus-Forschung ist im 19. Jh. von deutschen Forschern initiiert worden. Die meisten europäischen frühneuzeitlichen Erscheinungen von Hypertrichose (dem genetisch bedingten Haarwuchs am gesamten Körper und im Gesicht) gehen auf deutschsprachige Eltern oder Förderer zurück und sind in Deutschland in den Druck gelangt. Bei Untersuchungen des Motivs des

  15. Unilateral luteoma of pregnancy mimicking a malignant ovarian mass on magnetic resonance and ultrasound.

    PubMed

    Tannus, Joao Fernando Kazan; Hertzberg, Barbara S; Haystead, Clare M; Paulson, Erik K

    2009-03-01

    Luteoma of pregnancy is a rare, tumorlike ovarian mass that develops during pregnancy and regresses after delivery. Generally, these masses are discovered incidentally during cesarean delivery or tubal ligation. Some of these patients will develop hirsutism or virilization during late pregnancy with or without fetal masculinization due to circulating androgens. The imaging features of this entity have been only rarely reported. An incidentally discovered luteoma of pregnancy in a 23-year-old patient during routine obstetric ultrasound is described and the image features in ultrasound and magnetic resonance (MR) imaging are discussed and compared with other studies. The patient underwent surgery to extract this mass considering the imaging findings were suspicious for neoplasia and the size and location could have potentially caused dystocia. This type of mass can mimic ovarian neoplasia and a correlation with imaging and laboratory findings can avoid an unnecessary surgical procedure during pregnancy. PMID:19243065

  16. [Difficulties and pitfalls in the diagnosis of polycystic ovary syndrome].

    PubMed

    Marcondes, José Antonio Miguel; Barcellos, Cristiano Roberto Grimaldi; Rocha, Michelle Patrocínio

    2011-02-01

    The polycystic ovary syndrome is one of the most common endocrinopathies, affecting approximately 7% of women of reproductive age. Although it was described in 1935, only in 1990 was published the first Consensus regarding it its diagnosis. Today, the syndrome is also considered a cardiovascular risk factor, with a high prevalence of metabolic disorders. Reflecting this new vision of the syndrome, several documents, including Consensus, Statement and Guidelines have been published, addressing different aspects of the syndrome. This review is an analysis of documents obtained through a survey in the PubMed database, using the keywords "polycystic ovary syndrome", "hyperandrogenism" and "hirsutism", separately, taking as limiting the term Type of Article (Practice Guideline, Consensus Development Conference, Guideline) without limitation of time, language and age, having been selected only those documents prepared under the sponsorship of Medical Entities and with more than one author. PMID:21468515

  17. Role of 5α-reductase inhibitors in androgen-stimulated skin disorders.

    PubMed

    Azzouni, Faris; Zeitouni, Nathalie; Mohler, James

    2013-02-01

    5α-reductase (5α-R) isozymes are ubiquitously expressed in human tissues. This enzyme family is composed of 3 members that perform several important biologic functions. 5α-R isozymes play an important role in benign prostate hyperplasia, prostate cancer, and androgen-stimulated skin disorders, which include androgenic alopecia, acne, and hirsutism. Discovery of 5α-R type 2 deficiency in 1974 sparked interest in development of pharmaceutical agents to inhibit 5α-R isozymes, and 2 such inhibitors are currently available for clinical use: finasteride and dutasteride. 5α-R inhibitors are US Food and Drug Administration (FDA)-approved for the treatment of benign prostate hyperplasia. Only finasteride is FDA-approved for treatment of male androgenic alopecia. This article reviews the pathophysiology of androgen-stimulated skin disorders and the key clinical trials using 5α-R inhibitors in the treatment of androgen-stimulated skin disorders. PMID:23377402

  18. Rubinstein-Taybi syndrome with normal FISH result and CREBBP gene analysis: a case report.

    PubMed

    Balci, Sevim; Ergün, Mehmet Ali; Yüksel-Konuk, E Berrin; Bartsch, Oliver

    2008-01-01

    We report on a six-year-old boy with typical Rubinstein-Taybi syndrome (RSTS) phenotype. Clinical findings included mental and motor retardation, patent ductus arteriosus (PDA), undescended testes, hirsutism, broad thumbs with radial angulation and broad toes, and inguinal hernia. His karyotype was normal (46, XY) and fluorescence in situ hybridization (FISH) showed no deletion of the CREBBP [cAMP response element-binding (CREB) binding protein] gene on chromosome 16p13.3. CREBBP gene sequencing also revealed normal results. We wish to present this case because this patient had typical RSTS phenotype, but normal FISH and CREBBP gene sequencing results. It could be possible that genetic heterogeneity is related with novel mutations in other genes. With the publication of such cases, their significance will be brought to the attention of researchers in this field. PMID:18773673

  19. Endocrine and metabolic characteristics in polycystic ovary syndrome.

    PubMed

    Glintborg, Dorte

    2016-04-01

    Hirsutism affects 5-25% women, and the condition is most often caused by polycystic ovary syndrome (PCOS). The initial evaluation of hirsute patients should include a thorough medical history, clinical evaluation, and standardized blood samples to diagnose the 5% hirsute patients with rare endocrine disorders. The majority of these examinations can be performed by the patient's general practitioner. PCOS is a diagnosis of exclusion and is a multiorgan disease affecting most endocrine organs including ovaries, adrenals, pituitary, fat cells, and endocrine pancreas. The manifestations of PCOS are diverse, and up to 50% patients are normal weight. In most cases, however, the severity of symptoms can be related to abdominal obesity. Increased inflammation in PCOS can be measured as decreased adiponectin levels and increased levels of adipokines, chemokines, and interleukins. In the present thesis the use of these inflammatory markers is reviewed, but more data including hard end points are needed to determine which of these markers that should be introduced to the daily clinic. Abdominal obesity and insulin resistance stimulates ovarian and adrenal androgen production, whereas SHBG levels are decreased. Increased testosterone levels may further increase abdominal obesity and inflammation, therefore describing PCOS as a vicious cycle. Abdominal obesity and increased activation of the inflammatory system is seen in both normal weight and obese PCOS patients leading to an increased risk of dyslipidemia, diabetes, and possibly cardiovascular disease. Patients diagnosed with PCOS therefore should be screened for elements in the metabolic syndrome including weight, waist, blood pressure, HbA1c, and lipid status. Our data supported that prolactin and HbA1c levels could be markers of cardiovascular risk and should be confirmed by prospective studies. PCOS is a life-long condition and treatment modalities involve lifestyle modification, insulin sensitizers such as metformin, or

  20. Two siblings with fetal hydantoin syndrome.

    PubMed

    Ozkinay, F; Yenigün, A; Kantar, M; Ozkinay, C; Avanoğlu, A; Ulman, I

    1998-01-01

    An association between anticonvulsant drugs taken during pregnancy and congenital abnormalities was first identified by Meadow et al. in 1968. Manson and Frederic clarified teratogenic effects of hydantoin in their epidemiological studies in 1973. Varied malformations due to hydantoin intake during pregnancy include digit and nail hypoplasia, growth retardation, typical facial appearance, rib anomalies, abnormal palmar creases, hirsutism, and low hairlines. Ambiguous genitalia is rarely associated with this syndrome. We present two siblings, aged three years and three months, with fetal hydantoin syndrome (FHS). Both were born to an epileptic mother who was given diphenylhydantoin (DPH) and phenobarbital throughout her pregnancies. The patients showed many characteristics of FHS, and ambiguous genitalia. Clinical and laboratory examinations revealed that both have normal female internal genital organs and female karyotypes. PMID:9677735

  1. Implications of ultrasonically diagnosed polycystic ovaries. I. Correlations with basal hormonal profiles.

    PubMed

    Abdel Gadir, A; Khatim, M S; Mowafi, R S; Alnaser, H M; Muharib, N S; Shaw, R W

    1992-04-01

    The incidence of ultrasonically diagnosed polycystic ovaries (PCO) was studied in 389 Arab patients with different types of menstrual dysfunction and 100 normal women with regular menstruation. Two-hundred-and-forty-six patients (63.2%) were found to have PCO but only 206 (53.0%) were confirmed as cases of polycystic ovarian disease (PCOD) on endocrine grounds. Polycystic ovaries were diagnosed in 50% of patients with hyperprolactinaemia, 36.4% with hypothyroidism, 23.7% with hypothalamic dysfunction, 100% with adrenal 21-hydroxylase deficiency and in 16.0% of normal women. More women with PCOD presented with oligomenorrhoea or dysfunctional uterine bleeding (77.7%) and hirsutism (72.3%) but obesity had no discriminating value between the groups with different diagnoses. Ultrasonic diagnosis of PCO should be supplemented with an endocrine biochemical assessment to prevent overdiagnosis of PCOD and to exclude other endocrine dysfunctions. PMID:1522185

  2. An unusual case of secondary amenorrhoea

    PubMed Central

    Jain, Deepti

    2013-01-01

    A 22-year-old married woman presented with complaints of amenorrhoea and masculinisation. She had hoarseness of voice, hirsutism and ambiguous genitalia. Uterus, cervix and vagina were normal. Investigations revealed a high testosterone level, insignificant luteinizing hormone/follicle stimulating hormone (LH/FSH) and a raised 17-OH progesterone level. Ultrasonography revealed no ovarian or adrenal mass. A diagnosis of 21-hydroxylase deficient classic congenital adrenal hyperplasia, simple virilising form was considered. She was put on prednisolone and given oral contraceptive pill containing cyproterone acetate. Her testosterone level decreased and spontaneous menstruation started. She desired conception and ovulation was induced with clomiphene citrate. She conceived in the second menstrual cycle on clomiphene 50 mg. Imaging at 6 weeks revealed a viable fetus, and an anomaly scan at 16 weeks showed a healthy fetus. However, unfortunately, she aborted around 21 weeks. A scan immediately prior to abortion revealed a subchorionic haematoma. PMID:23391953

  3. An unusual case of secondary amenorrhoea.

    PubMed

    Jain, Deepti

    2013-01-01

    A 22-year-old married woman presented with complaints of amenorrhoea and masculinisation. She had hoarseness of voice, hirsutism and ambiguous genitalia. Uterus, cervix and vagina were normal. Investigations revealed a high testosterone level, insignificant luteinizing hormone/follicle stimulating hormone (LH/FSH) and a raised 17-OH progesterone level. Ultrasonography revealed no ovarian or adrenal mass. A diagnosis of 21-hydroxylase deficient classic congenital adrenal hyperplasia, simple virilising form was considered. She was put on prednisolone and given oral contraceptive pill containing cyproterone acetate. Her testosterone level decreased and spontaneous menstruation started. She desired conception and ovulation was induced with clomiphene citrate. She conceived in the second menstrual cycle on clomiphene 50 mg. Imaging at 6 weeks revealed a viable fetus, and an anomaly scan at 16 weeks showed a healthy fetus. However, unfortunately, she aborted around 21 weeks. A scan immediately prior to abortion revealed a subchorionic haematoma. PMID:23391953

  4. Effects of Simvastatin and Metformin on Polycystic Ovary Syndrome after Six Months of Treatment

    PubMed Central

    Banaszewska, Beata; Pawelczyk, Leszek; Spaczynski, Robert Z.

    2011-01-01

    Context: A randomized trial on women with polycystic ovary syndrome (PCOS) compared simvastatin, metformin, and a combination of these drugs. Objective: The aim of the study was to evaluate long-term effects of simvastatin and metformin on PCOS. Design: Women with PCOS (n = 139) were randomized to simvastatin (S), metformin (M), or simvastatin plus metformin (SM) groups. Evaluations were performed at baseline and at 3 and 6 months. Setting: The study was conducted at a university medical center. Primary Outcome: We measured the change of serum total testosterone. Results: Ninety-seven subjects completed the study. Total testosterone decreased significantly and comparably in all groups: by 25.6, 25.6, and 20.1% in the S, M, and SM groups, respectively. Both simvastatin and metformin improved menstrual cyclicity and decreased hirsutism, acne, ovarian volume, body mass index, C-reactive protein, and soluble vascular cell adhesion molecule-1. Dehydroepiandrosterone sulfate declined significantly only in the S group. Total cholesterol and low-density lipoprotein cholesterol significantly declined only in the S and SM groups. Ongoing reduction of ovarian volume, decreased hirsutism, acne and testosterone were observed between 0 and 3 months as well as between 3 and 6 months. Improvement of lipid profile, C-reactive protein, and soluble vascular cell adhesion molecule-1 occurred only during the first 3 months of treatment, with little change thereafter. Treatments were well tolerated, and no significant adverse effects were encountered. Conclusions: Long-term treatment with simvastatin was superior to metformin. Improvement of ovarian hyperandrogenism continued throughout the duration of the study. PMID:21865358

  5. Comparison of Dietary Intake between Polycystic Ovary Syndrome Women and Controls.

    PubMed

    Shishehgar, Farnaz; Ramezani Tehrani, Fahimeh; Mirmiran, Parvin; Hajian, Sepideh; Baghestani, Ahmad Reza; Moslehi, Nazanin

    2016-01-01

    Polycystic Ovary syndrome (PCOS) is a complicated endocrinopathy affecting women in reproductive age. The crucial role of obesity and insulin resistance in progression of metabolic and cardiovascular features of PCOS has been confirmed. Although it has been suggested that there is a possible association between dietary pattern and risk of PCOS, few studies investigating the diet composition of PCOS women. The aim of this study was to compare the dietary intakes between women with polycystic ovary syndrome (PCOS) and eumenorrheic non hirsute women. This was a case control study of 142 women with PCOS and 140 eumenorrheic non hirsute healthy age and BMI matched controls. We compared the dietary intakes of our study group using a validated food frequency questionnaire (FFQ), using T-test or Mann-Whitney to compare the means of two groups. One way Anova was used to compare the tertiles of GI and GL in each group and a two way ANOVA was used to compare between tertiles of GI-GL and groups. The results demonstrated that energy and macronutrient intakes in PCOS women compared to controls were similar. PCOS group consumed more food items with high glycemic index (p=0.042) and less legumes (P=0.026) and vegetables (p=0.037) than controls. Both groups in the highest tertile of glycemic load (GL) had higher body mass index and waist circumference. Considering the results of this study, it was concluded that PCOS women had a dietary pattern that was characterized by a higher consumption of high GI food items and lower legumes and vegetables. PMID:27157182

  6. Steroidogenic enzyme profile in an androgen-secreting adrenocortical oncocytoma associated with hirsustism

    PubMed Central

    Tetsi Nomigni, Milène; Ouzounian, Sophie; Benoit, Alice; Vadrot, Jacqueline; Tissier, Frédérique; Renouf, Sylvie; Lefebvre, Hervé; Christin-Maitre, Sophie; Louiset, Estelle

    2015-01-01

    Hirsutism induced by hyperandrogenism can be associated with polycystic ovary syndrome, 21-hydroxylase (OH) deficiency or androgen-secreting tumors, including ovarian and adrenal tumors. Adrenal androgen-secreting tumors are frequently malignant. Adrenal oncocytomas represent rare causes of hyperandrogenism. The aim of the study was to investigate steroidogenic enzyme expression and steroid secretion in an androgen-secreting adrenal oncocytoma in a young woman presenting with hirsutism. Hyperandrogenism was diagnosed on the basis of elevated plasma Δ4-androstenedione and testosterone levels. Pelvic ultrasound was normal, CT scanning revealed a right adrenal mass. Androgens were assessed in adrenal and ovarian vein samples and proved a right adrenal origin. Adrenalectomy normalized androgen levels and the adrenal tumor was diagnosed as an oncocytoma. Real time-PCR, immunohistochemistry and cell culture studies were performed on tumor explants to investigate the steroid secretion profile. Among enzymes required for cortisol synthesis, 17α-OH and 3β-hydroxysteroid dehydrogenase 2 (3β-HSD2) were highly expressed whereas 21-OH and 11β-OH were weakly produced at the mRNA and/or protein levels. Enzymes involved in testosterone production, 17β-HSD5 and 17β-HSD3, were also detected. ACTH receptor was present in the tissue. Cortisol, Δ4-androstenedione and testosterone secretions by cultured cells were increased by ACTH. These results provide the first demonstration, to our knowledge, of abnormal expression profile of steroidogenic enzymes in an adrenocortical oncocytoma. Our results also indicate that Δ4-androstenedione hypersecretion resulted from high 17α-OH and 3β-HSD2 expression in combination with low expression of 21-OH and 11β-OH. Testosterone production was ascribed to occurrence of 17β-HSD5 and 17β-HSD3. Finally, our results indicate that androgen secretion was stimulated by ACTH. PMID:26034121

  7. Clinical Characteristics of a Cohort of 244 Patients with Congenital Adrenal Hyperplasia

    PubMed Central

    Finkielstain, Gabriela P.; Kim, Mimi S.; Sinaii, Ninet; Nishitani, Miki; Van Ryzin, Carol; Hill, Suvimol C.; Reynolds, James C.; Hanna, Reem M.

    2012-01-01

    Context: Patients with congenital adrenal hyperplasia (CAH) often suffer from long-term complications secondary to chronic glucocorticoid therapy and suboptimal treatment regimens. Objective: The aim of the study was to describe clinical characteristics of a large cohort of pediatric and adult CAH patients. Design and Setting: We conducted a cross-sectional study of 244 CAH patients [183 classic, 61 nonclassic (NC)] included in a Natural History Study at the National Institutes of Health. Main Outcome Measure(s): Outcome variables of interest were height sd score, obesity, hypertensive blood pressure (BP), insulin resistance, metabolic syndrome, bone mineral density, hirsutism (females), and testicular adrenal rest (TART). Results: The majority had elevated or suppressed androgens, with varied treatment regimens. Mean adult height sd score was −1.0 ± 1.1 for classic vs. −0.4 ± 0.9 for NC patients (P = 0.015). Obesity was present in approximately one third of patients, across phenotypes. Elevated BP was more common in classic than NC patients (P ≤ 0.01); pediatric hypertensive BP was associated with suppressed plasma renin activity (P = 0.001). Insulin resistance was common in classic children (27%) and adults (38% classic, 20% NC); 18% of adults had metabolic syndrome. The majority (61%) had low vitamin D; 37% of adults had low bone mineral density. Hirsutism was common (32% classic; 59% NC women). TART was found in classic males (33% boys; 44% men). Conclusions: Poor hormonal control and adverse outcomes are common in CAH, necessitating new treatments. Routine monitoring of classic children should include measuring BP and plasma renin activity. Osteoporosis prophylaxis and TART screening should begin during childhood. A longitudinal study is under way. PMID:22990093

  8. Anti-mullerian hormon level and polycystic ovarian syndrome diagnosis

    PubMed Central

    Zadehmodarres, Shahrzad; Heidar, Zahra; Razzaghi, Zahra; Ebrahimi, Leili; Soltanzadeh, Kaveh; Abed, Farhang

    2015-01-01

    Background: Polycystic ovarian syndrome (PCOS) is a common endocrinopathy that accompanied with long term complications. The early diagnosis of this syndrome can prevent it. Objective: The aim was to determine the role of anti-mullerian hormon (AMH) in PCOS diagnosis and to find cut off level of it. Materials and Methods: In this cross sectional study, 117 women between 20-40 years old were participated in two groups: 60 PCOS women (based on Rotterdam criteria consensus) as the case group and 57 normal ovulatory women as the control group. In day 2-4 of cycle, transvaginal sonography was performed and serum hormonal level of AMH, luteinizing hormone (LH), follicle stimulating hormone (FSH), estradiol (E2), testosterone, fasting blood sugar (FBS), thyroid stimulating hormone (TSH), and prolactin (PRL) were measured in all of participants. For all of them score of hirsutism (base on Freeman-Galloway scoring) was determined. Results: There were statistically significant in irregular pattern of menstruation, AMH and FSH level, and presence of hirsutism between two groups. But regarding mean of age, body mass index, plasma level of PRL, TSH, LH, Testosterone, FBS, and E2 differences were not significant. Construction by ROC curve present 3.15 ng/ml as AMH cut off with 70.37% sensitivity and 77.36% specificity in order to PCOS diagnosis. Conclusion: AMH with cut off level of 3.15 ng/ml with sensitivity 70.37% and specificity 77.36% could use for early diagnosis of PCOS patients. PMID:26131012

  9. The role of obesity in the development of polycystic ovary syndrome.

    PubMed

    Motta, Alicia Beatriz

    2012-01-01

    Polycystic Ovary Syndrome (PCOS) is one of the common endocrine diseases that affects women in their reproductive age. PCOS has diverse clinical implications that include reproductive (infertility, hyperandrogenism, hirsutism), metabolic (insulin resistance, impaired glucose tolerance, type 2 diabetes mellitus, cardiovascular diseases) and psychological features (increased anxiety, depression and worsened quality of life). The exact patho-physiology of PCOS is complex and remains largely unclear. The prevalence of PCOS is estimated at 4-18%, depending on diverse factors discussed ahead. The phenotype varies widely depending on life stage, genotype, ethnicity and environmental factors including lifestyle and body weight. During the last decades, obesity and excess weight are major chronic diseases all around the word. Obesity increases some features of PCOS such as hyperandrogenism, hirsutism, infertility and pregnancy complications. Both obesity and insulin resistance increase diabetes mellitus type 2 and cardiovascular diseases. Moreover, obesity impairs insulin resistance and exacerbates reproductive and metabolic features of PCOS. It is well known that obesity is associated with anovulation, pregnancy loss and late pregnancy complications (pre-eclampsia, gestational diabetes). Obesity in PCOS is also linked to failure or delayed response to the various treatments including clomiphene citrate, gonadotropins and laparoscopic ovarian diathermy. It has been reported that, after losing as little as 5 % of initial body weight obese women with PCOS improved spontaneous ovulation rates and spontaneous pregnancy. Therefore, the weight loss prior to conception improves live birth rate in obese women with or without PCOS. The treatment of obesity may include lifestyle therapy (diet and exercise), pharmacological treatment and bariatric surgery. In summary, weight loss is considered the first-line therapy in obese women with PCOS. In the present review, the consequence and

  10. Invited review: the role of caterpillars in mare reproductive loss syndrome: a model for environmental causes of abortion.

    PubMed

    McDowell, K J; Webb, B A; Williams, N M; Donahue, J M; Newman, K E; Lindemann, M D; Horohov, D W

    2010-04-01

    A new abortigenic disease, now known as mare reproductive loss syndrome (MRLS), significantly affected the horse industry in the Ohio River Valley of the United States in late April and early May of 2001 and 2002. In 2001, approximately 25% of all pregnant mares aborted within several weeks (over 3,000 mares lost pregnancies), and abortion rates exceeded 60% on some farms. Mare reproductive loss syndrome struck hard and without warning, it was caused by something in the environment, it was not transmitted between animals, and it was not associated with any known abortigenic agent or disease. These experiments demonstrated that horses will inadvertently consume Eastern tent caterpillars (ETC) when the insects are present in the pasture or other feedstuffs, and MRLS-type abortions were induced in experimental animals (mares and pigs) by mixing ETC with the feed of the animals. Eastern tent caterpillars are hirsute (hairy) caterpillars, and the only part of the caterpillar that caused MRLS abortions was the cuticle. The experiments revealed that the setae (hairs) embed into the submucosa of the alimentary tract creating microgranulomatous lesions. It is hypothesized that the alimentary tract lesions allow bacteria from the alimentary tract of the mare, principally streptococci, actinobacilli, and to a lesser extent enterococci, to invade the circulatory system of the mare. The bacteria then establish infections in tissues where the immune surveillance of the mare is reduced, such as the fetus and placenta. Fetal and placental fluid bacterial infections lead to fetal death and abortion characteristic of MRLS. Inadvertent ingestion of ETC by pregnant mares causes MRLS. Currently the only known means to prevent MRLS is to avoid exposure of horses, particularly pregnant mares, to ETC and probably most hirsute caterpillars. PMID:20081071

  11. The Role of Anti-Müllerian Hormone in the Characterization of the Different Polycystic Ovary Syndrome Phenotypes.

    PubMed

    Romualdi, Daniela; Di Florio, C; Tagliaferri, V; De Cicco, S; Gagliano, D; Immediata, V; Lanzone, A; Guido, M

    2016-05-01

    Rotterdam criteria identified 4 polycystic ovary syndrome (PCOS) phenotypes based on the combination of anovulation (ANOV), hyperandrogenism (HA), and polycystic ovaries (PCOs): phenotype 1 (ANOV + HA + PCO), phenotype 2 (ANOV + HA), phenotype 3 (HA + PCO), and phenotype 4 (ANOV + PCO). Anti-Müllerian hormone (AMH) was suggested to play a pathophysiologic and diagnostic role in this syndrome. The aim of this study was to compare AMH levels among the different phenotypes in relation to clinical, endocrine, and metabolic features. We enrolled 117 women with PCOS (body mass index: 25.89 ± 6.20 kg/m(2), age range: 18-37 years) and 24 controls. Anthropometric characteristics, hirsutism score, ultrasound ovarian features, and hormonal parameters, including AMH, were evaluated. Each participant also underwent an oral glucose tolerance test and an euglycemic-hyperinsulinemic clamp. The prevalence of phenotypes 1 to 4 was 62.4%, 8.6%, 11.1%, and 17.9%, respectively. Body mass index and insulin resistance indexes were similar among the groups. Phenotype 1 showed the highest luteinizing hormone, androgens levels, ovarian volume, and AMH concentrations (9.27 ± 8.17 ng/mL,P< .05) versus phenotype 2 and controls. Phenotype 2 women were hirsute, showed an intermediate free androgen index value, low ovarian volume, and low AMH levels (4.05 ± 4.12 ng/mL). Phenotype 3 showed an intermediate state of HA and slightly augmented AMH levels (5.87 ± 4.35 ng/mL). The clinical and endocrine characteristics of phenotype 4 resembled those of controls, except for higher ovarian volume and AMH levels (7.62 ± 3.85 ng/mL;P< .05). Our results highlight the heterogeneity of the association between increased AMH levels, menstrual dysfunction, and HA in the different PCOS phenotypes, thus offering a key to an understanding of the current controversy on the value of AMH measurement in PCOS. PMID:26718304

  12. The efficacy of oral isotretinoin versus cyproterone compound in female patients with acne and the triad of cutaneous hyperandrogenism: A randomized clinical trial

    PubMed Central

    Faghihi, Gita; Jamshidi, Kioumars; Tajmirriahi, Nabet; Abtahi-Naeini, Bahareh; Nilforoshzadeh, Mohamadali; Radan, Mohamadreza; Hosseini, Sayed Mohsen

    2014-01-01

    Background: SAHA (Seborrhea, Acne, Hirsutism and Androgenetic Alopecia) syndrome is a dermatologic disorder, with variant response to treatment. Triad of cutaneous hyperandrogenism included nodulocystic or severe acne, female pattern hair loss and hirsutism. Aim: The aim of this study is to compare the effectiveness of isotretinoin and cyproterone compound in the treatment of nodulocystic acne, in patients with SAHA syndrome or triad of cutaneous hyperandrogenism. Materials and Methods: 30 female patients with SAHA syndrome were divided randomly into two groups. Group A was treated with cyproterone compound from day 5 of menstrual cycle onwards for 3 weeks and a week without it and group B received isotretinoin, with a dose of 0.75 mg/kg per day from the beginning of menses onwards for 4 months. The results were evaluated by a blind dermatologist using Acne Severity Index (ASI) score at baseline and monthly for 4 months. Results: Despite a continuous reduction in ASI score in both the groups, according to both physician (P = 0.63) and patient (P = 0.25) assessment, cyproterone compound was not statistically more effective than conventional treatment of nodulocystic acne at the end of the study. Side-effects were reported in patients in both groups, generally being mild and tolerable except in two subjects. Conclusion: This study indicates that cyproterone compound is not superior to isotretinoin in the treatment of nodulocystic acne in patient with SAHA syndrome or triad of cutaneous hyperandrogenism. Indeed, other studies are needed to evaluate the effect of cyproterone compound (regardless of androgen level) and isotretinoin in subjects with only nodulocystic acne. PMID:25625101

  13. Polycystic ovary syndrome: Is obesity a sine qua non? A clinical, hormonal, and metabolic assessment in relation to body mass index

    PubMed Central

    Saxena, Pikee; Prakash, Anupam; Nigam, Aruna; Mishra, Archana

    2012-01-01

    Objective: To determine the proportion of polycystic ovarian syndrome (PCOS) patients who have normal body mass index (BMI) and to compare the clinical, hormonal, and metabolic profile between lean and overweight patients of PCOS. Materials and Methods: One hundred consecutive infertile women with PCOS were studied and divided into lean (BMI between 18.5 and 23) and overweight (BMI ≥ 23). Metabolic and hormonal profile (serum FSH, LH, testosterone, prolactin, TSH on days 2–3 of menstrual cycle; serum progesterone premenstrually; serum insulin—fasting and 2 hours postglucose, glucose tolerance test, and fasting serum lipid profile) was performed along with pelvic sonogropahy; and clinical features, viz. waist hip ratio, hirsutism, acne, acanthosis nigricans, and clitoromegaly were recorded. Results: 42% of the PCOS subjects had normal BMI. Average age, hirsutism (80.9% vs. 89.7%), irregular cycles (92.8% vs. 96.6%), acne (9.5% vs. 15.5%), clitoromegaly (2.3% vs. 3.4%), endometrial thickness >4 mm (9.5% vs. 15.5%), and hormonal profile were similar in the lean and overweight PCOS groups. Family history of diabetes (9.5% vs. 24.1%), abnormal glucose tolerance test (GTT) (4.7% vs. 10.3%), deranged lipid profile (14.2% vs. 31%), and 2-hour postprandial insulin levels were higher in the overweight PCOS (P < 0.05). Insulin resistance was observed in 83.3% of lean PCOS but was still lower than 93.1% seen in overweight PCOS (P < 0.05). Conclusion: 42% of the PCOS had normal BMI, but clinical and hormonal profile was similar to PCOS patients with elevated BMI (overweight/obese). However, insulin resistance is observed in 83.3% of lean PCOS. Family history of diabetes, impaired GTT, deranged lipid profile, and insulin resistance were more prevalent in overweight PCOS. PMID:23226650

  14. Polycystic ovarian disease.

    PubMed

    Raj, S G; Talbert, L M

    1984-01-01

    Polycystic ovarian disease (PCOD) was first described as a single disease by Stein and Leventhal in 1935, but now has been separated into several distinct entities, comprising a symptom complex. The most frequent presenting symptoms associated with PCOD are obesity, hirsutism, amenorrhea or anovulation, dysfunctional uterine bleeding, irregular menses, and infertility. The common finding of hirsutism in PCOD patients is a reflection of the hyperandrogenism resulting from elevation of all the androgens, including testosterone, androstenediol, dehydroepiandrostrone sulfate (DHEA-S), and androstenedione. Some patients with all the clinical features of PCOD can be shown, through appropriate testing, to have an attenuated form of classic congenital adrenal hyperplasia (CAH). Serum follicle stimulating hormone (FSH) levels are usually low or in the normal range, and serum luteinizing hormone (LH) levels are usually elevated in patients with PCOD, resulting in an altered LH/FSH ratio. Treatment for PCOD must be based on the needs and desires of the individual patient, and on the pathophysiology of the patient's particular abnormalities. When pregnancy is desired, ovulation induction with clomiphene is indicated. Clomiphene is a weak estrogen that induces a transient rise in serum LH and FSH, followed by a gonadotropic pattern similar to normal cycles. A 72% ovulation rate and a 41.8% conception rate have been reported after treatment with clomiphene. In patients who do not respond to clomiphene, or clomiphene with added human chorionic gonadotropin (hCG), human menopausal gonadotropin (hMG) can be used to induce ovulation, but the patient should be closely monitored for multiple ovulation, multiple pregnancy, or hyperstimulation syndrome. For patients not interested in conception, regular menstrual cyclicity can be restored and hyperandrogenism reduced with oral contraceptives (OCs). PMID:6232474

  15. Case Report: When an Induced Illness Looks Like a Rare Disease.

    PubMed

    Rabbone, Ivana; Galderisi, Alfonso; Tinti, Davide; Ignaccolo, Maria Giovanna; Barbetti, Fabrizio; Cerutti, Franco

    2015-11-01

    The recognition of fabricated illness (FI) in a child represents a diagnostic challenge. The suspicion of FI often arises from the discrepancy between laboratory tests and clinical history. For instance, (unnecessary) insulin injections by caregivers has been widely described as a common cause of factitious hypoglycemia that may be inferred from discrepancies between plasma insulin and c-peptide. However, contemporary administration of insulin with an insulin secretagogue (glyburide), and of additional drugs, can make the diagnostic pathway problematic. We report the case of a child 4 years and 11 months old, admitted for alternance of hypo- and hyperglycemia associated with hirsutism, hypokalemia, nephrocalcinosis, and neurodevelopmental delay. All these features were compatible with Rabson-Mendenhall syndrome, a rare disorder of severe insulin resistance linked to mutations of insulin receptor. At admission, plasma insulin levels were high during hypoglycemic episodes, but c-peptide was repeatedly in the normal range. The genetic analysis of insulin receptor was negative. The story of previous hospital admissions, inconsistency between insulin and c-peptide values, and association between hypoglycemic episodes in the child with the presence of the mother, raised the suspicion of FI. This hypothesis was confirmed by a video recording that revealed the administration by the mother of multiple drugs (insulin, glyburide, progesterone, and furosemide) that mimicked most of the features of Rabson-Mendenhall syndrome, including hirsutism and hypoglycemia with coincident, inappropriately normal c-peptide values due to the administration of the insulin secretagogue. Our case indicates that inconsistency among consecutive diagnostic tests should be regarded as a clue of FI. PMID:26438710

  16. Management of post-pill amenorrhea.

    PubMed

    Molitch, M E; Reichlin, S

    1979-09-01

    Persistent amenorrhea, an uncommon sequela of oral contraceptive (OC) use, would not be a major problem except for the fact that an estimated 50 million women worldwide use OCs. Following OC use, women often experience some delay in resuming normal menses, but according to most studies, fewer than 1% fail to begin menstruating regularly within 6 months. In about 1/2 of this small percentage of women, failure to resume normal menses within 6 months is caused by an identifiable underlying disorder. The remaining 1/2 are considered to have "postpill amenorrhea," the result of a disruption of the normal hypothalamic-pituitary-ovarian feeding mechanism, which may be reversible with appropriate treatment. In evaluating patients with postpill amenorrhea, it is important to rule out premature ovarian failure, polycystic ovary syndrome, weight loss, and hyperprolactinemia before arriving at a diagnosis of idiopathic postpill amenorrhea. Prior to 6 months, detailed laboratory evaluation is not indicated, but after 6 months of amenorrhea, the history and physical status should again be carefully evaluated. Any history of weight change, galactorrhea, hirsutism, headaches, or "hot flashes" should be noted. On examination, evidence of hirsutism, virilization, expressible galactorrhea, or ovarian enlargement should be sought. The presence of any of these findings warrants laboratory testing. Pregnancy should always be excluded before further testing. If the patient shows no clinical evidence of premature ovarian failure, polycystic ovaries, anorexia nervosa, or hyperprolactinemia, or if laboratory evaluation fails to confirm clinical suspicions, it is appropriate to wait another 6 months before further evaluation. These disorders may be differentiated from idiopathic postpill amenorrhea by measuring serum levels of gonadotropins, estradiol, testosterone, and prolactin and by sella polytomography. It is important to define whether the treatment objective is resumption of a normal

  17. Peculiarities of sexual development and reproductive function in young women with childhood onset weight problems.

    PubMed

    Chikvaidze, N; Kristesashvili, J; Gegechkori, M

    2014-10-01

    The risks of reproductive problems are higher in underweight and overweight or obese women, especially in case of rapid weight gain or loss. But evidence is inconsistent especially in relation to the effect of age of body weight changes. The aim of the study was detection of peculiarities of sexual development and reproductive function in underweight and overweight/obese females with childhood thinness or childhood obesity. 103 young females (48 - with low BMI, 55 - with high BMI) with different reproductive problems were examined prospectively. In all investigated patients full clinical examination was held, including body mass index (BMI), type of body fat distribution (waist-to-hip ratio), age of body weight changes, assessment of hirsutism, acne, stretch marks and hyperpigmentation, menstrual disturbances and fertility problems were recorded and gynecological ultrasound was performed. There was no difference established according to the age of menarche and types of menstrual disturbances between the groups of low BMI and high BMI females (p>.05). The correlation was established between the onset of menstrual disruption and progression of changes in body mass (R=.448, p=.005). Hirsutism, stretch marks and acantosis nigricans (hyperpigmentation) were exhibited significantly more frequently in the patients with high BMI (p<.05), whilst distribution of acne was almost the same in the study groups (p>.05). 74.5% of overweight and obese patients had upper body fat distribution (waist-to-hip ratio > 0.8), whilst underweight patients had mostly equal (66.7%) or lower body fat distribution (31.3%) (p=.000). Polycystic ovarian syndrome (PCOS) and metabolic syndrome (MS) was the most frequent in overweight and obese patients, whilst non-classical congenital adrenal hyperplasia (NCAH) and ovarian dysfunction prevailed in the underweight females (p<.05). Infertility was mostly observed in patients with high BMI (p<.05). In conclusion, the peculiarities of sexual development

  18. Stein and Leventhal: 80 years on.

    PubMed

    Azziz, Ricardo; Adashi, Eli Y

    2016-02-01

    Eighty years ago a publication in the Journal proved to be seminal and transformative. The report by Irving Freiler Stein and Michael Leventhal titled, "Amenorrhea associated with polycystic ovaries," has proven to be a remarkably lasting and influential publication. The growth in related literature has been increasing exponentially: the 50 years between 1950 and 2000 saw a little more than 8000 publications on the topic, whereas the 15 year period between 2001 and 2015 (so far) has seen more than 20,000 related publications, a greater than 8-fold increase in the publication rate after 2000. As we commemorate the 80th anniversary year of the publication of the report by Stein and Leventhal, it is important to ask ourselves, "Was this publication truly as seminal as it is generally assumed to be? And why did it gain such a strong foothold on the medical psyche?" To the first question, a review of the antecedent medical literature makes it clear that the report of Drs Stein and Leventhal in 1935, although not flawless, was both seminal and transformative. In fact, it was the first report to describe a series of patients, rather than isolated cases, who demonstrated the triad of polycystic ovaries, hirsutism, and oligo/amenorrhea, connecting what had previously been disparate features of polycystic ovaries and menorrhagia, and hirsutism and oligo/amenorrhea. Second, the facts that Dr Stein and his collaborators were relatively prolific writers, consistent and clear in their message and descriptions; that a possible therapy (bilateral ovarian wedge resection) had been conveniently included in the report; and that the disorder was (is) relatively prevalent, permitted what would eventually be called the Stein-Leventhal syndrome to gain a strong foothold in contemporary medical practice. Overall, we in the field of medicine have much to celebrate, as we commemorate the 80th anniversary of the publication of the report by Stein and Leventhal in 1935, for a new disorder was

  19. Female Pattern Hair Loss

    PubMed Central

    Herskovitz, Ingrid; Tosti, Antonella

    2013-01-01

    Context: Female pattern hair loss (FPHL) also known as female androgenetic alopecia is a common condition afflicting millions of women that can be cosmetically disrupting. Prompt diagnosis and treatment are essential for obtaining optimal outcome. This review addresses the clinical presentation of female pattern hair loss, its differential diagnosis and treatment modalities. Evidence Acquisition: A) Diffuse thinning of the crown region with preservation of the frontal hairline (Ludwig’s type) B) The “Christmas tree pattern” where the thinning is wider in the frontal scalp giving the alopecic area a triangular shaped figure resembling a christmas tree. C) Thinning associated with bitemporal recession (Hamilton type). Generally, FPHL is not associated with elevated androgens. Less commonly females with FPHL may have other skin or general signs of hyperandrogenism such as hirsutism, acne, irregular menses, infertility, galactorrhea and insulin resistance. The most common endocrinological abnormality associated with FPHL is polycystic ovarian syndrome (PCOS). Results: The most important diseases to consider in the differential diagnosis of FPHL include Chronic Telogen Effluvium (CTE), Permanent Alopecia after Chemotherapy (PAC), Alopecia Areata Incognito (AAI) and Frontal Fibrosing Alopecia (FFA). This review describes criteria for distinguishing these conditions from FPHL. Conclusions: The only approved treatment for FPHL, which is 2% topical Minoxidil, should be applied at the dosage of 1ml twice day for a minimum period of 12 months. This review will discuss off-label alternative modalities of treatment including 5-alfa reductase inhibitors, antiandrogens, estrogens, prostaglandin analogs, lasers, light treatments and hair transplantation. PMID:24719635

  20. [Endocrine obesity: bioelectric profiles (biotypes) detected in the body composition].

    PubMed

    Miggiano, G A D; Petitti, T

    2004-09-01

    136 patients were selected (16 men and 120 women with non-specific menstrual disturbances) with a BMI (Body Mass Index) between 25 and 45 kg/m2, which were diagnosed with "disendocrinia" (GH deficit, hyperadrenocorticism, hypothyroidsm, hyperandrogenism, menstrual cycle disorders). The proposed approach, based on the visualization of the value distribution of the electric measures in different graphics, is able to immediately explain the bioelectric state of the individual's lean-mass. Subjects with hypothyroidism present, along with their overweight, less bio-conducting mass, with an altered fluid intra/extra-cellular distribution. Patients with hyperadrenocorticism show instead an hyperhydratation of the body mass, especially in the extracellular level. Patients with menstrual disorders (amenorrea, polycystic ovary syndrome, anovulatory cycle etc...) present a lean mass reduction (elevated Rs) and an increase of the intra-cellular compartment (elevated-Xc). Patients with hyper-androgenism (and hirsutism) show a characteristic bioelectric "pattern", with low Rs levels and high Xc levels. Subjects with GH deficit (men and women), has a trend of documenting bioelectric measures with lower lean mass and higher fat-mass. Different electric biotypes seem to characterize the body composition in the several endocrine disorders. PMID:15700636

  1. Life-long diseases need life-long treatment: long-term safety of ciclosporin in canine atopic dermatitis

    PubMed Central

    Nuttall, Tim; Reece, Douglas; Roberts, Elizabeth

    2014-01-01

    Ciclosporin (Atopica; Novartis Animal Health) has been licensed for canine atopic dermatitis (AD) since 2002. Adverse events (AEs) have been reported in 55 per cent of 759 dogs in 15 clinical trials, but are rare in pharmacovigilance data (71.81 AEs/million capsules sold). Gastrointestinal reactions were most common, but were mild and rarely required intervention. Other AEs were rare (≤1 per cent in clinical trials; <10/million capsules sold). Hirsutism, gingival hyperplasia and hyperplastic dermatitis were rarely significant and resolved on dose reduction. Ciclosporin decreases staphylococcal and Malassezia infections in AD, and at the recommended dose is not a risk factor for other infections, neoplasia, renal failure or hypertension. The impact on glucose and calcium metabolism is not clinically significant for normal dogs. Concomitant treatment with most drugs is safe. Effects on cytochrome P450 and MDR1 P-glycoprotein activity may elevate plasma ciclosporin concentrations, but short-term changes are not clinically significant. Monitoring of complete blood counts, urinalysis or ciclosporin levels is not justified except with higher than recommended doses and/or long-term concurrent immunosuppressive drugs. Ciclosporin is not a contraindication for killed (including rabies) vaccines, but the licensed recommendation is that live vaccination is avoided during treatment. In conclusion, ciclosporin has a positive risk-benefit profile for the long-term management of canine AD. PMID:24682696

  2. Discordant patterns of hyperprolactinaemia and galactorrhoea in secondary amenorrhoea.

    PubMed

    Seppälä, M; Lehtovirta, P; Ranta, T

    1977-11-01

    There were 123 patients with functional secondary amenorrhea of at least 6 months' duration. The upper normal serum prolactin level was 3 ng/ml as measured by radioimmunoassay. Hyperprolactinemia was found in 40 of the 123 patients (33%). Those with peak levels of 60 ng/ml often also had some normal levels. Patients with levels over 120 had demonstrable galactorrhea in 38% of cases. Galactorrhea was found in 10 patients with normal prolactin values. The 5 patients with anorexia nervosa had normal prolactin values and no galactorrhea. 14 of 61 (23%) patients with self-induced weight loss had hyperprolactinemia but galactorrhea was rare. Hyperprolactinemia was found in 4 of 13 patients with stress-related amenorrhea. Amenorrhea after use of oral contraceptives was related to hyperprolactinemia in 10 of 28 patients and 5 had galactorrhea. There were 4 patients with the Chiari-Frommel syndrome; their mean serum prolactin level was 435 ng/ml. 5 patients had pituitary tumors; galactorrhea was present in 3 of them. All of these 5 patients had high serum prolactin levels ranging from 145 to 620 ng/ml. Mild hyperprolactinemia was present in 16 patients with idiopathic amenorrhea but no galactorrhea. 5 of the 9 patients who were hirsute had elevated prolactin. Results show that galactorrhea is not a reliable sign of hyperprolactinemia. The prolactin assay is helpful in the management of patients with amenorrhea. PMID:579018

  3. Congenital generalized hypertrichosis: the skin as a clue to complex malformation syndromes.

    PubMed

    Pavone, Piero; Praticò, Andrea D; Falsaperla, Raffaele; Ruggieri, Martino; Zollino, Marcella; Corsello, Giovanni; Neri, Giovanni

    2015-01-01

    Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients, mainly women, who show excessive hair growth with male pattern distribution.Hypertrichosis is classified according to age of onset (congenital or acquired), extent of distribution (generalized or circumscribed), site involved, and to whether the disorder is isolated or associated with other anomalies. Congenital hypertrichosis is rare and may be an isolated condition of the skin or a component feature of other disorders. Acquired hypertrichosis is more frequent and is secondary to a variety of causes including drug side effects, metabolic and endocrine disorders, cutaneous auto-inflammatory or infectious diseases, malnutrition and anorexia nervosa, and ovarian and adrenal neoplasms. In most cases, hypertrichosis is not an isolated symptom but is associated with other clinical signs including intellective delay, epilepsy or complex body malformations.A review of congenital generalized hypertrichosis is reported with particular attention given to the disorders where excessive diffuse body hair is a sign indicating the presence of complex malformation syndromes. The clinical course of a patient, previously described, with a 20-year follow-up is reported. PMID:26242548

  4. Management of polycystic ovarian syndrome with Diane-35 or Diane-35 plus metformin.

    PubMed

    Feng, Wei; Jia, Yan-Yan; Zhang, Dong-Ya; Shi, Hui-Rong

    2016-02-01

    In this study, we assessed the efficacy and safe usage of the oral contraceptive, Diane-35, in the treatment of polycystic ovary syndrome (PCOS) when combined with the drug metformin. Eighty-two patients with PCOS were randomly divided into two equal groups: Diane-35 treatment group and Diane-35 plus metformin group. Three treatment cycles were administered. Patients' biomedical data such as height, weight, waist circumference, hip circumference, body fat percentage, acne score, hirsutism score and serum hormone levels were selected, which were tested between the second and the fifth day of the menstrual cycle and follicle-stimulating hormone (FSH), luteinizing hormone (LH), testosterone (T), blood glucose, blood lipids and insulin levels(IR) were analyzed. Significant reduction in body mass index (BMI), acne score, LH and T levels were observed in both groups after three months of treatment; on the other hand, high-density lipoprotein cholesterol (HDL) concentration elevated (p < 0.05). Combined treatment group had a significant change in BMI index and fasting blood glucose levels compared to Diane-35 alone treatment group (p < 0.05). With personalized nutrition and exercise program, Diane-35 only group or Diane-35 plus metformin group had both significantly lowered their serum testosterone levels and had improved acne symptoms. Diane-35 plus metformin combination had shown reduced fat percentage levels in patients with PCOS, and had shown improved glucose and lipid metabolism. PMID:26507097

  5. The Pregnancy in Polycystic Ovary Syndrome Study II: Baseline Characteristics and Effects of Obesity from a Multi-Center Randomized Clinical Trial

    PubMed Central

    Legro, Richard S.; Brzyski, Robert G.; Diamond, Michael P.; Coutifaris, Christos; Schlaff, William D.; Alvero, Ruben; Casson, Peter; Christman, Gregory M.; Huang, Hao; Yan, Qingshang; Haisenleder, Daniel J.; Barnhart, Kurt T.; Bates, G. Wright; Usadi, Rebecca; Lucidi, Richard; Baker, Valerie; Trussell, J.C.; Krawetz, Stephen A.; Snyder, Peter; Ohl, Dana; Santoro, Nanette; Eisenberg, Esther; Zhang, Heping

    2014-01-01

    Objective To summarize baseline characteristics from a large multi-center infertility clinical trial. Design Cross-sectional baseline data from a double-blind randomized trial of 2 treatment regimens (letrozole vs. clomiphene). Setting Academic Health Centers throughout the U.S. Interventions None Main Outcome Measure(s) Historical, biometric, biochemical and questionnaire parameters. Participants 750 women with PCOS and their male partners took part in the study. Results Females averaged ~30 years old and were obese (BMI 35) with ~20% from a racial/ethnic minority. Most (87%) were hirsute and nulligravid (63%). . Most of the females had an elevated antral follicle count and enlarged ovarian volume on ultrasound. Women had elevated mean circulating androgens, LH:FSH ratio (~2), and AMH levels (8.0 ng/mL). Additionally, women had evidence for metabolic dysfunction with elevated mean fasting insulin and dyslipidemia. Increasing obesity was associated with decreased LH:FSH levels, AMH levels and antral follicle counts but increasing cardiovascular risk factors, including prevalence of the metabolic syndrome. Males were obese (BMI 30) and had normal mean semen parameters. Conclusions The treatment groups were well-matched at baseline. Obesity exacerbates select female reproductive and most metabolic parameters. We have also established a database and sample repository that will eventually be accessible to investigators. PMID:24156957

  6. Nandrolone decanoate (deca-durabolin) in primary Sjögren's syndrome: a double blind pilot study.

    PubMed

    Drosos, A A; van Vliet-Dascalopoulou, E; Andonopoulos, A P; Galanopoulou, V; Skopouli, F N; Moutsopoulos, H M

    1988-01-01

    The efficacy and side-effects of Deca-Durabolin (DD) were tested, in a double blind fashion, in twenty female primary Sjögren's syndrome (1 degree SS) patients. Ten randomly assigned patients received DD (100 mg IM bi-weekly) for six months, and ten others placebo, for the same period. Analysis of the results revealed that the DD-treated patients showed a moderate improvement of subjective xerostomia, a significant decrease of the erythrocyte sedimentation rate (ESR), and an overall improvement of their feeling of well-being, -judged by themselves and the investigator subjectively-, when compared with the placebo group. All the sicca objective parameters (results of Schirmer's I test, slit lamp eye examination after rose bengal staining, stimulated parotid flow rate measurements and labial minor salivary gland histopathology) were not significantly altered in either group. The clinical side-effects were the expected ones, i.e. hirsutism, hoarseness and an increase in libido, more pronounced in the DD-treated group. At the end of the study, one DD-treated patient, developed a diffuse well-differentiated B-lymphocytic lymphoma, which regressed spontaneously three months later. PMID:3396249

  7. Carney complex presenting with a unilateral adrenocortical nodule: a case report

    PubMed Central

    2014-01-01

    Introduction Carney complex is an autosomal dominant syndrome with multiple neoplasms in different sites, including myxomas, endocrine tumors and lentigines lesions. To the best of our knowledge, this is the first report of Carney complex presenting with a unilateral adrenal adenoma associated with a pituitary incidentaloma. Case presentation A 27-year-old Iranian woman was referred to our endocrinology clinic with amenorrhea and hirsutism, further confirming a diagnosis of adrenocorticotropic hormone-independent Cushing’s syndrome. The cause was believed to be a right adrenocortical adenoma based on a computed tomography scan. Our patient underwent a right laparoscopic adrenalectomy and pathological examination revealed pigmented micronodular adrenal hyperplasia. Pituitary magnetic resonance imaging also documented a microadenoma that was considered to be an incidentaloma based on normal pituitary function tests. Recurrence of hypercortisolism led to a left laparoscopic adrenalectomy, providing further evidence for the diagnosis of primary pigmented nodular adrenocortical disease. Carney complex was established in light of her history of cardiac myxomas. Conclusion We present what we believe to be the first case of Carney complex presenting with a unilateral adrenocortical adenoma in association with a pituitary incidentaloma. Although primary pigmented nodular adrenocortical disease is rare as a component of Carney complex, it should be considered in the differential diagnosis of Cushing's syndrome. Rarely, adrenal and pituitary imaging can be misleading. PMID:24499519

  8. Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.

    PubMed

    Gossai, Nathan; Biegel, Jaclyn A; Messiaen, Ludwine; Berry, Susan A; Moertel, Christopher L

    2015-12-01

    We report a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris Syndrome (CSS), and schwannomatosis. CSS is a rare congenital syndrome with characteristic clinical findings. This thirty-three-year-old man was diagnosed early in life with the constellation of moderate intellectual disability, hypotonia, mild microcephaly, coarse facies, wide mouth with full lips, hypoplasia of the digits, and general hirsutism. At age 26, he was found to have schwannomatosis after presenting with acute spinal cord compression. Blood and tissue analysis of multiple subsequent schwannoma resections revealed a germline missense mutation of SMARCB1, acquired loss of 22q including SMARCB1 and NF2 and mutation of the remaining NF2 wild-type allele-thus completing the four-hit, three-event mechanism associated with schwannomatosis. Variations in five genes have been associated with the Coffin-Siris phenotype: ARID1A, ARID1B, SMARCA4, SMARCB1, and SMARCE1. Of these genes, SMARCB1 has a well-established association with schwannomatosis and malignancy. This is the first report of a patient with a constitutional missense mutation of SMARCB1 resulting in CSS and subsequent development of schwannomatosis. This finding demonstrates that a SMARCB1 mutation may be the initial "hit" (constitutional) for a genetic disorder with subsequent risk of developing schwannomas and other malignancies, and raises the possibility that other patients with switch/sucrose non-fermenting (SWI/SNF) mutations may be at increased risk for tumors. PMID:26364901

  9. The role of nutrition and insulin in the regulation of sex hormone binding globulin.

    PubMed

    Franks, S; Kiddy, D S; Hamilton-Fairley, D; Bush, A; Sharp, P S; Reed, M J

    1991-11-01

    In an analysis of 263 women with polycystic ovary syndrome (PCOS), 91 (35%) of whom were obese (body mass index greater than 25 kg/m2), it was found that obese women with PCOS were more likely to be anovulatory and had a higher prevalence of hirsutism than the non-obese subgroup. Although serum concentrations of gonadotrophins, androstenedione and total testosterone were similar in obese and lean women with PCO, sex hormone binding globulin (SHBG) levels were significantly lower, and free testosterone correspondingly higher, in obese women. Serum concentrations of SHBG were inversely correlated with those of both fasting and glucose-stimulated insulin. A short-term, very-low-calorie diet resulted in a 2-fold increase in SHBG which was mirrored by a fall in serum insulin. Similar biochemical changes were also observed during a long-term (6-7 months) 1000 kcal diet and were associated with an improvement of menstrual function and fertility. This encourages the view that calorie restriction has an important part to play in the management of obese women with PCOS. PMID:1954173

  10. Thirty-seven candidate genes for polycystic ovary syndrome: Strongest evidence for linkage is with follistatin

    PubMed Central

    Urbanek, Margrit; Legro, Richard S.; Driscoll, Deborah A.; Azziz, Ricardo; Ehrmann, David A.; Norman, Robert J.; Strauss, Jerome F.; Spielman, Richard S.; Dunaif, Andrea

    1999-01-01

    Polycystic ovary syndrome (PCOS) is a common endocrine disorder of women, characterized by hyperandrogenism and chronic anovulation. It is a leading cause of female infertility and is associated with polycystic ovaries, hirsutism, obesity, and insulin resistance. We tested a carefully chosen collection of 37 candidate genes for linkage and association with PCOS or hyperandrogenemia in data from 150 families. The strongest evidence for linkage was with the follistatin gene, for which affected sisters showed increased identity by descent (72%; χ2 = 12.97; nominal P = 3.2 × 10−4). After correction for multiple testing (33 tests), the follistatin findings were still highly significant (Pc = 0.01). Although the linkage results for CYP11A were also nominally significant (P = 0.02), they were no longer significant after correction. In 11 candidate gene regions, at least one allele showed nominally significant evidence for population association with PCOS in the transmission/disequilibrium test (χ2 ≥ 3.84; nominal P < 0.05). The strongest effect in the transmission/disequilibrium test was observed in the INSR region (D19S884; allele 5; χ2 = 8.53) but was not significant after correction. Our study shows how a systematic screen of candidate genes can provide strong evidence for genetic linkage in complex diseases and can identify those genes that should have high (or low) priority for further study. PMID:10411917

  11. Cardiometabolic aspects of polycystic ovarian syndrome

    PubMed Central

    Cho, Li Wei; Randeva, Harpal S; Atkin, Stephen L

    2007-01-01

    It is estimated that 6%–7% of women of reproductive age have polycystic ovarian syndrome (PCOS). Women with this condition exhibit an adverse cardiovascular risk profile, characteristic of the cardiometabolic syndrome and given the high prevalence of PCOS in the female population, this condition may contribute towards the acceleration of cardiovascular disease among young women. This article summarizes the recent development and findings in the cardiometabolic abnormalities in patients with PCOS. Patients with PCOS have the clinical features of oligomenorrhoea, hirsutism and infertility; however, they also exhibit hyperinsulinemia, obesity, hypertension, dyslipidemia, and an increased pro-thrombotic state. They have an increased risk of type 2 diabetes and impaired glucose tolerance, and sleep apnea is also found more commonly in this population. However, despite the presence of cardiovascular risk factors and increased surrogate markers of cardiovascular disease it is unclear if they have accelerated atherosclerosis. End point studies are currently lacking and the available evidence are conflicting. Adipose tissue has emerged as an important endocrine organ over the last decade and gained recognition in having an important role in the cardiometabolic syndrome. Adiponectin that is secreted exclusively by adipocytes has recently been recognized as an important marker of cardiometabolic syndrome, obesity, type 2 diabetes, and coronary artery disease. Other adipocytokines like leptin and resistin have also recently been recognized. This article will address the current evidence for the adverse cardiovascular risk in PCOS and the other factors that may be implicated. Finally the therapeutic options for treatment will be discussed. PMID:17583175

  12. Laser laparoscopy in the treatment of polycystic ovarian disease

    NASA Astrophysics Data System (ADS)

    Mutrynowski, Andrzej; Zabielska, Renata

    1996-03-01

    A polycystic ovaries disease occurs in the case of women with anovulatory cycles as the result of neurohormonal disorders. Patients with this disease suffer from infertility and many symptoms, such as: irregular menstrual bleeding, hirsutism, obesity. The paper presents a method of the carbon dioxide laser laparoscopy in the polycystic ovary disease treatment. The study included 96 women operated on (carbon dioxide laser laparoscopy) in the II Clinic Of Obstetric and Gynecology in Warsaw. Each woman measured her body temperature in order to evaluate her menstrual cycle and had vaginal USG examination or a cytohormonal one before laparoscopy and within 6 months after the surgery. Performing the laparoscopy the operator punctured each ovary in at least 15 points using the carbon dioxide laser. The patients were followed-up for 6 months. The Chi test was used to make the statistic analysis. Comparing the percent of ovulatory cycles and regular ones before and after surgery we noticed that the differences were statistically relevant. Eighty-five patients (88%) had regular cycles and in 88 cases (92%) there was a diphasic curve of the body temperature after the laparoscopy. Fourteen percent of infertile women with polycystic ovary disease conceived.

  13. High-Dose Hook Effect in 17-Hydroxyprogesterone Assay in a Patient with 21-Hydroxylase Deficiency.

    PubMed

    Parlak, Mesut; Ellidağ, Hamit Yaşar; Türkkahraman, Doğa

    2015-12-01

    Congenital adrenal hyperplasia (CAH) describes a group of disorders characterized by enzyme defects in adrenal steroidogenesis. 21-hydroxylase deficiency (21-OHD) is the most commonly encountered form. The analysis of steroids in pediatric cases requires high-sensitivity assays. A 14-year-old Syrian girl was referred for evaluation of short stature, amenorrhea, and hirsutism. On physical examination, breast development was Tanner stage 1. She had a phallic clitoris with a single urogenital orifice. Laboratory findings revealed primary adrenal deficiency with high androgen levels and low levels of 17-hydroxyprogesterone (17-OHP), (<0.05 ng/mL) and estrogen. This unexpected result led to suspicion of a high-dose hook effect. The measurement was repeated after 1/10 dilution of serum, and a high level of 17-OHP (115.4 ng/mL) was detected with the same test-enzyme-linked immunosorbent assay (ELISA). Simple virilizing form of CAH (21-OHD) was suspected and confirmed with genetic analysis. After initiation of glucocorticoid therapy, breast development was noted along with a decrease in testosterone level and an increase in estrogen level. To our knowledge, this is the first case report of hook effect for 17-OHP immunoassay in a patient with 21-OHD. High-dose hook effect should be suspected in patients with CAH when the test results are incompatible with one another. Additionally, this case demonstrates that a high testosterone level can block aromatase activity and consequently also estrogen production and breast development. PMID:26777045

  14. Testosterone-secreting adrenal adenoma in a peripubertal girl

    SciTech Connect

    Kamilaris, T.C.; DeBold, C.R.; Manolas, K.J.; Hoursanidis, A.; Panageas, S.; Yiannatos, J.

    1987-11-13

    A 15-year-old girl who presented with primary amenorrhea and virilization had an adrenocortical adenoma that secreted predominantly testosterone. To the authors' knowledge, she is the first peripubertal and second youngest patient with a testosterone-secreting adrenal tumor described. Serum dehydroepiandrosterone sulfate and urinary 17-ketosteroid an 17-hydroxycorticosteroid levels were normal. A tumor was located by a computed tomographic (CT) scan and by uptake of 6-..beta..-(/sup 75/Se) selenomethylnorcholesterol. Microscopic examination of the tumor showed typical features of an adrenocortical adenoma with no histologic features characteristic of Leydig cells. Postoperatively, her hirsutism regressed, she rapidly went through puberty, and regular monthly menstruation started four months later. Finding the source of testosterone in a virilized patient can be difficult. Eleven of the 14 previously described patients with testosterone-secreting adrenal tumors initially underwent misdirected surgery on the ovaries. Review of these cases revealed that results of hormone stimulation and suppression tests are unreliable and that these tumors are usually large. Therefore, CT scanning of the adrenal glands is recommended in all patients suspected of having a testosterone-secreting tumor.

  15. Metabolic, Behavioral and Reproductive Effects of Vertical Sleeve Gastrectomy in an Obese Rat Model of Polycystic Ovary Syndrome

    PubMed Central

    Ressler, Ilana B.; Grayson, Bernadette E.; Seeley, Randy J.

    2014-01-01

    Introduction Polycystic ovary syndrome (PCOS) is the most common endocrinopathy affecting women of reproductive age. Its clinical expression is diverse, including metabolic, behavioral and reproductive effects, with many affected by obesity and decreased quality of life. Women with PCOS who have undergone surgically-induced weight loss have reported tremendous benefit, not only with weight loss, but also improvement of hyperandrogenism and menstrual cyclicity. Methods In a rat model of PCOS achieved via chronic administration of dihydrotestosterone (DHT) exposure, we investigated the ability of bariatric surgery, specifically vertical sleeve gastrectomy (VSG), to ameliorate the metabolic, behavioral and reproductive abnormalities invoked by this PCOS model. Results We found that DHT-treatment combined with exposure to a high-fat diet resulted in increased body weight and body fat, impaired fasting glucose, hirsutism, anxiety and irregular cycles. VSG resulted in reduced food intake, body weight and adiposity with improved fasting glucose and triglycerides. VSG induced lower basal corticosterone levels and attenuated stress responsivity. Once the DHT levels decreased to normal, regular estrous cyclicity was also restored. Conclusion VSG, therefore, improved PCOS manifestations in a comprehensive manner and may represent a potential therapeutic approach for specific aspects of PCOS. PMID:24408363

  16. Multifollicular ovaries: clinical and endocrine features and response to pulsatile gonadotropin releasing hormone.

    PubMed

    Adams, J; Franks, S; Polson, D W; Mason, H D; Abdulwahid, N; Tucker, M; Morris, D V; Price, J; Jacobs, H S

    By means of pelvic ultrasonography, a multifollicular ovarian appearance was observed in women with weight-loss-related amenorrhoea. Multifollicular ovaries (MFO) are normal in size or slightly enlarged and filled by six or more cysts 4-10 mm in diameter; in contrast to women with polycystic ovaries (PCO), stroma is not increased. Unlike PCO patients, women with MFO were not hirsute and serum concentrations of luteinising hormone and follicle stimulating hormone were normal and decreased, respectively. The uterus was small indicating oestrogen deficiency. In MFO, treatment with gonadotropin releasing hormone (LHRH) induced ovulation in 83% of cycles and there were seven pregnancies in 8 women; in PCO, only 40% of cycles were ovulatory and there were eleven pregnancies (8 women) but six of these aborted. In MFO ovarian morphology reverted to normal in ovulatory cycles, whereas in PCO the polycystic pattern persisted despite the presence of a dominant follicle. MFO may represent a normal ovarian response to weight-related hypothalamic disturbance of gonadotropin control. PMID:2867389

  17. Pharmacotherapy of polycystic ovary syndrome--an update.

    PubMed

    Saha, Lekha; Kaur, Sharonjeet; Saha, Pradip Kumar

    2012-02-01

    Polycystic ovary syndrome (PCOS) is a persisting challenge to clinical and basic research scientists as none of the presently available medications have been fully able to combat these consequences. The aim of the present review is to summarize the different lines of treatment available for the different symptomologies that women with PCOS presents. In this comprehensive review, search was made for various treatment options available for PCOS by using Cochrane library, Pubmed, Medline, in addition to the relevant printed medical journals and periodicals. The search results revealed that oral contraceptives containing oestrogen and progesterone regularize the menstruation, antiandrogens like spironolactone and drosperinone have proven to be effective in hirsutism and acne, clomiphene is the gold standard for ovulation induction, but multiple pregnancies and clomiphene failure add to its limitation. Hence, aromatase inhibitors like letrozole, low-dose gondotropins, and ovarian drilling procedure have shown to be beneficial effect in clomiphene-resistant cases. Insulin sensitizers such as metformin, thiazolidinediones, and d-chiro-inositol increase insulin sensitivity and improve ovulation rate. Recently, melatonin, N-acetyl cysteine, acarbose, and statins have shown positive results in different symptomologies of PCOS. The results show that PCOS treatment constitutes varied line of treatment depending upon the clinical features with which a woman is presenting. Still, unfortunately, none of the treatments are fully able to combat the PCOS. PMID:21210850

  18. Safety, efficacy, actions, and patient acceptability of drospirenone/ethinyl estradiol contraceptive pills in the treatment of premenstrual dysphoric disorder.

    PubMed

    Breech, Lesley L; Braverman, Paula K

    2010-01-01

    Premenstrual dysphoric disorder (PMDD) is estimated to affect 3%-8% of reproductive age women. Multiple therapeutic modalities have been evaluated with varying efficacy for the associated somatic and mood symptoms. The majority of older studies had shown that oral contraceptive pills (OCs) were most effective for the physical symptoms. However, newer OCs containing a novel progestin, drospirenone, have shown promise in alleviating both the somatic and affective/behavioral symptoms. This progestin, which is a derivative of spironolactone, has both antimineralocorticoid and antiandrogenic activity. A 24/4 formulation containing 20 μg of ethinyl estradiol has been found effective in randomized double-blind placebo-controlled trials utilizing established scales documenting symptoms associated with PMDD. Multiple studies have shown that drospirenone-containing OCs are safe without evidence of clinically adverse effects on carbohydrate metabolism, lipids, blood pressure, weight, serum potassium or increased thrombotic events compared to other low dose OCs. In addition, significant improvements have been demonstrated in acne, hirsutism, and fluid retention symptoms. Several open label studies demonstrated good patient compliance and reported satisfaction with the method. Because of the significant placebo effect demonstrated in the blinded placebo-controlled trials, additional large randomized placebo-controlled trials are needed to confirm the efficacy of the drospirenone OCs in the treatment of PMDD. However, this OC formulation appears to be a promising therapeutic modality. PMID:21072278

  19. The spironolactone renaissance.

    PubMed

    Doggrell, S A; Brown, L

    2001-05-01

    Until recently, spironolactone was considered only as an antagonist at the aldosterone receptors of the epithelial cells of the kidney and was used clinically in the treatment of hyperaldosteronism and, occasionally, as a K(+)-sparing diuretic. The spironolactone renaissance started with the experimental finding that spironolactone reversed aldosterone-induced cardiac fibrosis by a cardiac action. Experimentally, spironolactone also has direct effects on blood vessels. Spironolactone reduces vascular fibrosis and injury, inhibits angiogenesis, reduces vascular tone and reduces portal hypertension. The rationale for the Randomized Aldactone Evaluation Study (RALES) of spironolactone in heart failure was that 'aldosterone escape' occurred through non-angiotensin II mechanisms. The RALES clinical trial was stopped early when it was shown that there was a 30% reduction in risk of death among the spironolactone patients. In RALES, spironolactone also reduced hospitalisation for worsening heart failure and improved the symptoms of heart failure. Other recent clinical trials have shown that spironolactone reduces cardiac and vascular collagen turnover, improves heart variability, reduces ventricular arrhythmias, improves endothelial dysfunction and dilates blood vessels in human heart failure and these effects probably all contribute to the increased survival in heart failure. Spironolactone may also be useful in the treatment of left ventricular hypertrophy, portal hypertension and cirrhosis. There have also been some recent small clinical trials of spironolactone as an anti-androgen showing potential in acne, hirsutism and precocious puberty. PMID:11322868

  20. High-performance liquid chromatography-diode array and electrospray-mass spectrometry analysis of non-allowed substances in cosmetic products for preventing hair loss and other hormone-dependent skin diseases.

    PubMed

    De Orsi, Daniela; Pellegrini, Manuela; Pichini, Simona; Mattioli, Donatella; Marchei, Emilia; Gagliardi, Luigi

    2008-11-01

    A simple high-performance liquid chromatography (HPLC) method with ultraviolet diode array (UV-DAD) and electrospray ionisation mass spectrometry (ESI-MS) detection has been developed for the determination of minoxidil, progesterone, estrone, spironolactone, canrenone, hydrocortisone and triamcinolone acetonide in cosmetic products. The presence of these substances in commercial cosmetic samples is prohibited. The compounds were separated by reversed phase chromatography with water (0.1% trifluoroacetic acid) and acetonitrile gradient elution and detected by UV-DAD at 230, 254 and 280 nm and by ESI-MS positive ionisation mode. Benzoic acid was used as internal standard. Linearity was studied with UV-DAD detection from 1.50 to 1,000 microg/ml or mug/g range, depending on the different compounds and type of cosmetic preparation and with ESI-MS in the 50-1,000 ng/ml or ng/g range. Good determination coefficients (r(2)>or=0.99) were found in both UV and ESI-MS. At three concentrations spanning the linear dynamic ranges of both UV-DAD and ESI-MS assay, mean recoveries were always higher than 90% for the different analytes. This method was successfully applied to the analysis of substances under investigations illegally added in cosmetic cream and lotions, sold on internet web sites to prevent hair loss and other hormone-dependent skin diseases, like acne and hirsutism. PMID:18656319

  1. Other antiandrogens.

    PubMed

    Schmidt, J B

    1998-01-01

    Various substances of steroidal or nonsteroidal structure may serve as an alternative for the antiandrogenic treatment of acne. Compounds with antiandrogenic properties like cimetidine or ketoconazole are rarely administered for acne due to their weak effects. In contrast, spironolactone is an effective antiandrogen that shows good treatment effects in hirsutism and acne. Side effects occur frequently and are dose dependent. Isotretinoin--the most effective agent in acne therapy--has been under discussion for additional antiandrogenic properties for years. At present there is additional evidence for the antiandrogenic effects of isotretinoin. Regarding substances acting on both levels, androgen receptor binding and 5 alpha-reductase inhibition, the question is raised whether the term 'antiandrogen' should be amplified by including the 5 alpha-reductase inhibitors. This would pay tribute to the biological aspect of antiandrogenicity that takes into account not only the mode of action but also the effects of the substance. Under this aspect type 1 5 alpha-reductase inhibitors may gain attention in the future. PMID:9557251

  2. A new perspective in diagnosing polycystic ovary syndrome.

    PubMed Central

    Ertorer, Melek Eda; Anaforoglu, Inan; Bozkirli, Emre; Bakiner, Okan; Tutuncu, Neslihan Bascil; Demirag, Nilgun Guvener

    2007-01-01

    Recently, the term of "possible" polycystic ovary syndrome (PCOS) has been used for defining cases in which biochemical evaluations are incomplete but clinical phenotypes are suggestive of PCOS. The aim of this study was, by using Rotterdam 2003 criteria, to detect possible PCOS cases and compare their characteristics and insulin sensitivity status with confirmed PCOS subjects. One-hundred-eighteen women who admitted with complaints and symptoms suggesting PCOS were included. Insulin sensitivity status of the cases was calculated with Homeostasis Model Assessment of Insulin Resistance (HOMA-IR). Cases fulfilling Rotterdam 2003 criteria were defined as confirmed PCOS, whereas indeterminate subjects as possible PCOS. Confirmed PCOS was detected in 70 (59.3%) and possible PCOS in 48 (40.7%) cases. Confirmed PCOS was most prevalent among subjects with hirsutism and menstrual dysfunction; 32 (80.0%) vs. 8 (20%), (p=0.000). Body mass index and HOMA-IR values did not differ between groups: confirmed PCOS versus possible PCOS; 25.46+/-5.55 kg/m(2) vs. 26.75+/-7.55 kg/m(2), 3.37+/-4.12 vs. 3.21+/-2.50, (p>0.05). Family history of type-2 diabetes mellifus was similar within both groups (p>0.05). Many PCOS patients seem to be undiagnosed due to inadherence to diagnostic work-up and/or to not fulfill Rotterdam 2003 criteria. These criteria may not be sufficient to cover the entire spectrum of PCOS. PMID:17366951

  3. Functional Morphology and Sexual Dimorphism of Mouthparts of the Short-Faced Scorpionfly Panorpodes kuandianensis (Mecoptera: Panorpodidae)

    PubMed Central

    Ma, Na; Huang, Jing; Hua, Baozhen

    2013-01-01

    Mouthparts are closely associated with the feeding behavior and feeding habits of insects. The features of mouthparts frequently provide important traits for evolutionary biologists and systematists. The short-faced scorpionflies (Panorpodidae) are distinctly different from other families of Mecoptera by their extremely short rostrum. However, their feeding habits are largely unknown so far. In this study, the mouthpart morphology of Panorpodes kuandianensis Zhong et al., 2011 was investigated using scanning electron microscopy and histological techniques. The mandibulate mouthparts are situated at the tip of the short rostrum. The clypeus and labrum are short and lack distinct demarcation between them. The epipharynx is furnished with sublateral and median sensilla patches. The blade-shaped mandibles are sclerotized and symmetrical, bearing apical teeth and serrate inner margins. The maxilla and labium retain the structures of the typical pattern of biting insects. The hirsute galea, triangular pyramid-shaped lacinia, and labial palps are described in detail at ultrastructural level for the first time. Abundant sensilla are distributed on the surface of maxillary and labial palps. The sexual dimorphism of mouthparts is found in Panorpodes for the first time, mainly exhibiting on the emargination of the labrum and apical teeth of mandibles. Based on the features of mouthparts, the potential feeding strategy and feeding mechanism are briefly discussed in Panorpodes. PMID:23533677

  4. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes.

    PubMed

    Yuan, Bo; Pehlivan, Davut; Karaca, Ender; Patel, Nisha; Charng, Wu-Lin; Gambin, Tomasz; Gonzaga-Jauregui, Claudia; Sutton, V Reid; Yesil, Gozde; Bozdogan, Sevcan Tug; Tos, Tulay; Koparir, Asuman; Koparir, Erkan; Beck, Christine R; Gu, Shen; Aslan, Huseyin; Yuregir, Ozge Ozalp; Al Rubeaan, Khalid; Alnaqeb, Dhekra; Alshammari, Muneera J; Bayram, Yavuz; Atik, Mehmed M; Aydin, Hatip; Geckinli, B Bilge; Seven, Mehmet; Ulucan, Hakan; Fenercioglu, Elif; Ozen, Mustafa; Jhangiani, Shalini; Muzny, Donna M; Boerwinkle, Eric; Tuysuz, Beyhan; Alkuraya, Fowzan S; Gibbs, Richard A; Lupski, James R

    2015-02-01

    Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. Wiedemann-Steiner syndrome (WDSTS), which shares CdLS phenotypic features, is caused by mutations in lysine-specific methyltransferase 2A (KMT2A). Here, we performed whole-exome sequencing (WES) of 2 male siblings clinically diagnosed with WDSTS; this revealed a hemizygous, missense mutation in SMC1A that was predicted to be deleterious. Extensive clinical evaluation and WES of 32 Turkish patients clinically diagnosed with CdLS revealed the presence of a de novo heterozygous nonsense KMT2A mutation in 1 patient without characteristic WDSTS features. We also identified de novo heterozygous mutations in SMC3 or SMC1A that affected RNA splicing in 2 independent patients with combined CdLS and WDSTS features. Furthermore, in families from 2 separate world populations segregating an autosomal-recessive disorder with CdLS-like features, we identified homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component. Together, our data, along with recent transcriptome studies, suggest that CdLS and related phenotypes may be "transcriptomopathies" rather than cohesinopathies. PMID:25574841

  5. Spectrum and Consequences of SMC1A Mutations: The Unexpected Involvement of a Core Component of Cohesin in Human Disease

    PubMed Central

    Mannini, Linda; Liu, Jinglan; Krantz, Ian D.; Musio, Antonio

    2009-01-01

    SMC1A encodes a structural component of the cohesin complex, which isnecessary for sister chromatid cohesion. In addition to its canonical role, cohesin has been shown to be involved in gene expression regulation and maintenance of genome stability. Recently, it has been demonstrated that mutations in the SMC1A gene are responsible for Cornelia de Lange syndrome (CdLS). CdLS is a genetically heterogeneous multisystem developmental disorder with variable expressivity, typically characterized by consistent facial dysmorphia, upper extremity malformations, hirsutism, cardiac defects, growth and cognitive retardation, gastrointestinal abnormalities and other systemic involvement. SMC1A mutations have also been identified in colorectal cancers. So far a total of 26 different mutations of the SMC1A gene have been reported. All mutations reported to date are either missense or small in frame deletions that maintain the open reading frame and presumably result in a protein with residual function. The mutations involve all domains of the protein but appear to cluster in key functional loci. At the functional level, elucidation of the effects that specific SMC1A mutations have on cohesin activity will be necessary to understand the etiopathology of CdLS and its possible involvement in tumorigenesis. In this review, we summarize the current knowledge of SMC1A mutations. PMID:19842212

  6. Identification of a novel de novo mutation in the NIPBL gene in an Iranian patient with Cornelia de Lange syndrome: A case report

    PubMed Central

    2011-01-01

    Background Cornelia de Lange syndrome is characterized by dysmorphic facial features, hirsutism, severe growth and developmental delay. Germline mutations in the NIPBL gene with an autosomal dominant pattern and in the SMC1A gene with an X-linked pattern have been identified in Cornelia de Lange syndrome. Case presentation A two-month-old Iranian boy who showed multiple congenital anomalies was referred to the genetic center of a welfare organization in southwest Iran. He was the second child of a non-consanguineous marriage, born after full term with normal delivery. His birth weight was 3110 g, his length was 46 cm and his head circumference was 30 cm. Both parents were clinically asymptomatic, with no positive history of any deformity in their respective families. Conclusions Sequencing of the NIPBL gene from our patient revealed a single-base deletion of thymidine in exon 10 (c.516delT). This mutation presumably results in premature termination at codon 526. We did not observe this mutation in the parents of our patient with Cornelia de Lange syndrome. The results presented here enlarge the spectrum of NIPBL gene mutations associated with Cornelia de Lange syndrome by identifying a novel de novo mutation in an Iranian patient with Cornelia de Lange syndrome and further support the hypothesis that NIPBL mutations are disease-causing mutations leading to Cornelia de Lange syndrome. PMID:21707975

  7. NIPBL rearrangements in Cornelia de Lange syndrome: evidence for replicative mechanism and genotype–phenotype correlation

    PubMed Central

    Pehlivan, Davut; Hullings, Melanie; Carvalho, Claudia M.B.; Gonzaga-Jauregui, Claudia G.; Loy, Elizabeth; Jackson, Laird G.; Krantz, Ian D.; Deardorff, Matthew A.; Lupski, James R.

    2013-01-01

    Purpose Cornelia de Lange syndrome (CdLS) is a multisystem congenital anomaly disorder characterized by mental retardation, limb abnormalities, distinctive facial features, and hirsutism. Mutations in three genes involved in sister chromatid cohesion, NIPBL, SMC1A, and SMC3, account for ~55% of CdLS cases. The molecular etiology of a significant fraction of CdLS cases remains unknown. We hypothesized that large genomic rearrangements of cohesin complex subunit genes may play a role in the molecular etiology of this disorder. Methods Custom high-resolution oligonucleotide array comparative genomic hybridization analyses interrogating candidate cohesin genes and breakpoint junction sequencing of identified genomic variants were performed. Results Of the 162 patients with CdLS, for whom mutations in known CdLS genes were previously negative by sequencing, deletions containing NIPBL exons were observed in 7 subjects (~5%). Breakpoint sequences in five patients implicated microhomology-mediated replicative mechanisms—such as serial replication slippage and fork stalling and template switching/microhomology-mediated break-induced replication—as a potential predominant contributor to these copy number variations. Most deletions are predicted to result in haploinsuflciency due to heterozygous loss-of-function mutations; such mutations may result in a more severe CdLS phenotype. Conclusion Our findings suggest a potential clinical utility to testing for copy number variations involving NIPBL when clinically diagnosed CdLS cases are mutation-negative by DNA-sequencing studies. PMID:22241092

  8. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes

    PubMed Central

    Yuan, Bo; Pehlivan, Davut; Karaca, Ender; Patel, Nisha; Charng, Wu-Lin; Gambin, Tomasz; Gonzaga-Jauregui, Claudia; Sutton, V. Reid; Yesil, Gozde; Bozdogan, Sevcan Tug; Tos, Tulay; Koparir, Asuman; Koparir, Erkan; Beck, Christine R.; Gu, Shen; Aslan, Huseyin; Yuregir, Ozge Ozalp; Al Rubeaan, Khalid; Alnaqeb, Dhekra; Alshammari, Muneera J.; Bayram, Yavuz; Atik, Mehmed M.; Aydin, Hatip; Geckinli, B. Bilge; Seven, Mehmet; Ulucan, Hakan; Fenercioglu, Elif; Ozen, Mustafa; Jhangiani, Shalini; Muzny, Donna M.; Boerwinkle, Eric; Tuysuz, Beyhan; Alkuraya, Fowzan S.; Gibbs, Richard A.; Lupski, James R.

    2015-01-01

    Cornelia de Lange syndrome (CdLS) is a genetically heterogeneous disorder that presents with extensive phenotypic variability, including facial dysmorphism, developmental delay/intellectual disability (DD/ID), abnormal extremities, and hirsutism. About 65% of patients harbor mutations in genes that encode subunits or regulators of the cohesin complex, including NIPBL, SMC1A, SMC3, RAD21, and HDAC8. Wiedemann-Steiner syndrome (WDSTS), which shares CdLS phenotypic features, is caused by mutations in lysine-specific methyltransferase 2A (KMT2A). Here, we performed whole-exome sequencing (WES) of 2 male siblings clinically diagnosed with WDSTS; this revealed a hemizygous, missense mutation in SMC1A that was predicted to be deleterious. Extensive clinical evaluation and WES of 32 Turkish patients clinically diagnosed with CdLS revealed the presence of a de novo heterozygous nonsense KMT2A mutation in 1 patient without characteristic WDSTS features. We also identified de novo heterozygous mutations in SMC3 or SMC1A that affected RNA splicing in 2 independent patients with combined CdLS and WDSTS features. Furthermore, in families from 2 separate world populations segregating an autosomal-recessive disorder with CdLS-like features, we identified homozygous mutations in TAF6, which encodes a core transcriptional regulatory pathway component. Together, our data, along with recent transcriptome studies, suggest that CdLS and related phenotypes may be “transcriptomopathies” rather than cohesinopathies. PMID:25574841

  9. Precocious Sister Chromatid Separation (PSCS) in Cornelia de Lange Syndrome

    PubMed Central

    Kaur, Maninder; DeScipio, Cheryl; McCallum, Jennifer; Yaeger, Dinah; Devoto, Marcella; Jackson, Laird G.; Spinner, Nancy B.; Krantz, Ian D.

    2009-01-01

    The Cornelia de Lange syndrome (CdLS) (OMIM# 122470) is a dominantly inherited multisystem developmental disorder. The phenotype consists of characteristic facial features, hirsutism, abnormalities of the upper extremities ranging from subtle changes in the phalanges and metacarpal bones to oligodactyly and phocomelia, gastroesophageal dysfunction, growth retardation, and neurodevelopmental delay. Prevalence is estimated to be as high as 1 in 10,000. Recently, mutations in NIPBL were identified in sporadic and familial CdLS cases. To date, mutations in this gene have been identified in over 45% of individuals with CdLS. NIPBL is the human homolog of the Drosophila Nipped-B gene. Although its function in mammalian systems has not yet been elucidated, sequence homologs of Nipped-B in yeast (Scc2 and Mis4) are required for sister chromatid cohesion during mitosis, and a similar role was recently demonstrated for Nipped-B in Drosophila. In order to evaluate NIPBL role in sister chromatid cohesion in humans, metaphase spreads on 90 probands (40 NIPBL mutation positive and 50 NIPBL mutation negative) with CdLS were evaluated for evidence of precocious sister chromatid separation (PSCS). We screened 50 metaphases from each proband and found evidence of PSCS in 41% (compared to 9% in control samples). These studies indicate that NIPBL may play a role in sister chromatid cohesion in humans as has been reported for its homologs in Drosophila and yeast. PMID:16100726

  10. Approach to the patient: contraception in women with polycystic ovary syndrome.

    PubMed

    Yildiz, Bulent O

    2015-03-01

    Polycystic ovary syndrome (PCOS) is a common reproductive and metabolic disorder. Patients with PCOS present with clinical signs of androgen excess (ie, hirsutism and acne), menstrual irregularities, and infertility. Combined oral contraceptive (OC) pills are the first-line medical therapy for the long-term management of PCOS. Containing a combination of estrogen and progestin, OCs restore regular menses, improve androgen excess, and provide effective contraception and protection from endometrial cancer. The benefits of hormonal contraception outweigh the risks in the vast majority of women with PCOS. However, concerns have been raised about potential adverse cardiovascular and metabolic effects of OCs. Currently available evidence indicates an increased relative risk of venous thrombosis associated with OCs varying among different formulations. Arterial thrombosis risk attributable to OCs does not appear to be significantly increased in young nonsmoking women. OC use might be associated with increased risk of diabetes in morbidly obese women with PCOS with severe insulin resistance. A tailored clinical approach to oral contraception in women with PCOS requires individualized risk stratification and management by determination of each PCOS patient's personal cardiometabolic risk profile at baseline and during follow-up. Before prescribing an OC, clinicians should document individual risk factors including age, smoking, obesity, any degree of glucose intolerance including prediabetes and diabetes, hypertension, dyslipidemia, thrombophilia, and personal or family history of a venous thromboembolic event. PMID:25701301

  11. New Methodology for Quantifying the Effects of Perennials on Their Patch Productivity in Semi-arid Environments

    NASA Astrophysics Data System (ADS)

    Mor-Mussery, Amir; Leu, Stefan; Budovsky, Arie

    2015-05-01

    The correlations between perennials and the herbaceous productivity in patches occupied by them were previously studied and several descriptive models were defined. Yet these studies focused on either single or several species without analyzing higher numbers and ranking their effects. Here we describe a handy analytical methodology which allows separating the effects of each perennial species on herbaceous productivity at its respective patches from those of the others in a given area, even in case of complex patches containing several species. The described methodology also allows analysts to correlate the effect of perennials to their patch sizes and the respective herbaceous biomass. Additional mathematical analysis presented here succeeded in differentiating between the perennial species stand-alone presence effect on the herbaceous productivity and that attributed to the canopy size. In addition, the effects of location along the slope and its rockiness outlines were studied. As a case study, we chose representative sloped shrubland with rockiness outlines, located in Yattir farm, Northern Negev, Israel. Based on the described analyses we found that the species with the highest positive effects on the herbaceous productivity were Echinops polyceras, Echium angustifolium, and Salvia lanigera. Contradictory effects were observed in case of Thymelea hirsute, Anchusa ramosus, and Noaea mucronata. Collectively, the presented methodology could be an important management tool for monitoring the herbaceous biomass amounts in a given shrubland.

  12. Roux-en-Y gastric bypass in the treatment of non-classic congenital adrenal hyperplasia due to 11-hydroxylase deficiency

    PubMed Central

    Kalani, Amir; Thomas, Nithin; Sacerdote, Alan; Bahtiyar, Gül

    2013-01-01

    Non-classic adrenal hyperplasia (NCAH) has been associated with insulin resistance (IR). Therapies such as metformin, thiazolidinediones and lifestyle alterations improve IR and also ameliorate the biochemical and clinical abnormalities of NCAH, much as they do in polycystic ovarian syndrome (PCOS). More recently, bariatric surgery, such as Roux-en-Y gastric bypass (RYGBP), has also been associated with improvement in IR and amelioration of PCOS and may, therefore, be beneficial in NCAH. We report a case of a 39-year-old, deaf-mute, obese woman with NCAH due to 11-hydroxylase deficiency who underwent RYGBP followed by improvement of NCAH manifestations. She was initially treated with metformin and pioglitazone, which lowered serum 11-deoxycortisol from 198 ng/dl (<51) to 26 ng/dl. Five weeks after undergoing RYGBP her body mass index fell from 44.18 kg/m2 to 39.54 kg/m2 and, despite not taking metformin or pioglitazone, serum 11-deoxycortisol remained normal at <40 ng/dl. Concurrently and subsequently, her NCAH symptoms, for example, alopecia, hirsutism and irregular menses normalised as well. We conclude that RYGBP, like other interventions that reduce IR, may be another way of treating non-classic 11-hydroxylase deficiency in selected patients. PMID:23513016

  13. [Endocrine diagnosis in puberty--pathophysiologic bases].

    PubMed

    Girard, J

    1994-05-01

    Puberty is characterized by activation of the maturing gonads and by the thus started increased secretion of sexual steroids. Consequences are the appearance of secondary signs of puberty sensu strictori, i. e. the development of breasts in girls, the increase of testicle volume in boys, often followed by growing pubic hair, axillary hair, menarche or laryngeal growth (puberty vocal change) respectively. The most important accompanying symptom is the spurt of growth starting around 12 to 18 months after the onset of the development of the secondary pubertal signs. From the time sequence of the development and the possible delays, valuable diagnostic hints can be gained, giving rise to a more precise analysis of the hormonal phenomena of adolescence. In cases of pubertas tarda a primary malfunction must be differentiated from secondary hypogonadotropic functional defect. The syndromes should be classified correctly according to their etiology. The most frequent diagnosis is that of a simply delayed puberty. Acne, hypertrichosis, hirsutism are concomitant phenomena of puberty development which can indicate a hormonal imbalance (differential diagnosis AGS, ovarian hyperandrogeny). The swelling of breasts in boys (gynecomastia) is a common transitory phenomenon in male adolescence (DD, tumor of the gonads or Klinefelter syndrome). Interesting considerations of differential diagnosis apply also to the assessment of the enlargement of the thyroid gland in puberty, which affects more often girls than boys. PMID:8016754

  14. Effect of cyproterone acetate on pituitary-adrenocortical function in man.

    PubMed

    van Wayjen, R G; van den Ende, A

    1981-01-01

    Recent literature (1973-1976) suggests suppression of pituitary-adrenal function in patients (eg with pubertas praecox) who are treated with cyproterone acetate in high doses for prolonged periods. Therefore we investigated in our metabolic ward the effects of administration of 200 mg cyproterone acetate per day during 20 days to 4 healthy male volunteers. Baseline plasma cortisol and ACTH levels, repeated diurnal plasma cortisol and ACTH profiles and the results of tetracosactide (Synacthen) stimulation tests and single-dose metyrapone (Metopiron) tests proved to be comparable before, during and after treatment. Moreover, a slight gradual increase in urinary cortisol excretion during the observation period indicated that cyproterone acetate in the given dose during 20 days certainly does not reduce the pituitary-adrenal function of 4 healthy male volunteers. Long-term administration (during 1 to 7 years) of the combination of cyproterone acetate and ethinyloestradiol did not suppress serum levels of cortisol, prolactin, thyroxine and TSH in 18 female patients with hirsutism and/or acne. PMID:6257015

  15. DENND1A gene variants in Bahraini Arab women with polycystic ovary syndrome.

    PubMed

    Gammoh, Emily; Arekat, Mona R; Saldhana, F Lisa; Madan, Samira; Ebrahim, Bashayer H; Almawi, Wassim Y

    2015-04-10

    Recent genome-wide association studies and replication analyses reported an association between variants of DENND1A gene and polycystic ovary syndrome (PCOS), mostly in Asians. We therefore examined whether the common DENND1A SNPs rs10818854, rs2479106, and rs10986105 are associated with PCOS in Bahraini Arab population. This case-control study involved 191 women with PCOS diagnosed according to the Rotterdam criteria, and 202 control women. SNP genotyping was performed by the allelic discrimination in real-time PCR. The outcome was that the minor allele frequencies of SNPs rs10818854, rs2479106, and rs10986105 were similar between women with PCOS and control women (P>0.05), even before correcting for multiple testing, and none of the tested DENND1A SNPs were associated with PCOS under co-dominant, dominant, or recessive genetic models. None of the tested DENND1A variants were associated with PCOS features (hirsutism, insulin sensitivity, menses pattern, free testosterone, and free androgen index). Taking common GTA haplotype as reference (OR=1.00), [rs10818854/rs2479106/rs10986105] 3-locus haplotype analysis demonstrated lack of association of any of the DENND1A haplotypes with PCOS, even before correcting for multiple testing. To conclude we demonstrated lack of association of DENND1A SNPs rs10818854, rs2479106, and rs10986105, previously associated with PCOS in Asians, with PCOS in Bahraini Arab women. PMID:25626177

  16. Successful pregnancy after the treatment of primary amenorrhea in a patient with non-classical congenital adrenal hyperplasia.

    PubMed

    Purwana, Indri N; Kanasaki, Haruhiko; Oride, Aki; Miyazaki, Kohji

    2013-01-01

    We describe a case of non-classical congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency in a 30-year-old Japanese woman who achieved pregnancy after treatment of primary amenorrhea. Hirsutism and clitoromegaly were present. Ultrasound examination showed polycystic appearance of the ovary. Luteinizing hormone-releasing hormone (LH-RH) test resulted in exaggerated LH response, showing a polycystic ovary syndrome (PCOS) pattern. The diagnosis was based on the elevated intial levels of 17-hydroxyprogesterone (55 ng/mL) and dihydroepiandosterone (7780 ng/mL). The first withdrawal bleeding occurred within 6 weeks after treatment with hydrocortisone (20 mg/day) combined with conjugated estrogens (1.25 mg/day) and medroxyprogesterone acetate (10 mg/day), which were continued for five courses. The bleeding remained cyclic every 28 days with maintenance doses of hydrocortisone. Subsequently, ovulation was induced using clomiphene citrate (100 mg/day). Pregnancy was achieved at the second attempt of ovulation induction and was within 10 months after initial presentation. Continuing hydrocortisone, the patient delivered a healthy baby at term. PMID:22672538

  17. UBE2A deficiency syndrome: a report of two unrelated cases with large Xq24 deletions encompassing UBE2A gene.

    PubMed

    Thunstrom, Sofia; Sodermark, Liv; Ivarsson, Liz; Samuelsson, Lena; Stefanova, Margarita

    2015-01-01

    Intragenic mutations of the UBE2A gene, as well as larger deletions of Xq24 encompassing UBE2A have in recent years been associated with a syndromic form of X-linked intellectual disability called UBE2A deficiency syndrome or X-linked intellectual disability type Nascimento (OMIM#300860). Common clinical features in these patients include moderate to severe intellectual disability (ID), heart defects, dysmorphic features such as high forehead, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, wide mouth, myxedematous appearance, hirsutism, onychodystrophy, and genital anomalies. This study investigates clinical and molecular data of two unrelated, affected males with chromosome Xq24 deletions encompassing UBE2A. Both have been followed from birth until two years of age. A review of the previously published patients with deletions encompassing UBE2A is provided. Besides the common features, the two boys show anomalies not previously described, such as retinal coloboma, esophageal atresia with esophageal fistula, long fingers, camptodactyly, clinodactyly, and long broad toes. Analyses of the phenotype-genotype correlations suggest considerable prevalence of heart defects in the group of patients with larger deletions of Xq24 in comparison to the patients having intragenic UBE2A mutations. However, further studies are needed in order to establish statistically reliable phenotype-genotype correlations of this syndrome. PMID:25287747

  18. Androgenetic alopecia.

    PubMed

    Piraccini, B M; Alessandrini, A

    2014-02-01

    Androgenetic alopecia (AGA) is the most common form of alopecia, affecting up to 80% of men and 50% of women in the course of their life. AGA is caused by a progressive reduction in the diameter, length and pigmentation of the hair. Hair thinning results from the effects of the testosterone metabolite dehydrotestosterone (DHT) on androgen-sensitive hair follicles. In women, AGA produces diffuse thinning of the crown region with maintenance of the frontal hairline (Ludwig pattern AGA). In premenopausal women, AGA can be a sign of hyperandrogenism, together with hirsutism and acnes. Male pattern is characterized by bitemporal recession of the frontal hairline, followed by diffuse thinning at the vertex. Today, scalp dermoscopy is used routinely in patients with androgenetic alopecia, as it facilitates the diagnosis and differential diagnosis with other diseases, allows staging of severity, and allows you to monitor the progress of the disease in time and response to treatment. AGA is a progressive disease that tends to worsen with time. Medical treatment of AGA includes topical minoxidil, antiandrogen agents, 5-alpha reductase inhibitors. PMID:24566563

  19. Risk from exposure to polychlorinated dibenzo-p-dioxins and dibenzofurans emitted from municipal incinerators

    SciTech Connect

    Maukerjee, D.; Cleverly, D.H.

    1987-01-01

    Incineration of wastes seems to be one of the major sources of PCDDs and PCDFs (dioxins). Their prevalence and extreme stability in the environment, bioavailability and bioaccumulation in the biota and human adipose tissues and breast milk are of much concern. 2,3,7,8-TCDD is one of the most toxic chemicals known and has been found to have teratogenic and carcinogenic activities in animals. Exposure to TCDD can result in chloracne, general weakness, drastic weight loss, hyperpigmentation of skin, hirsutism, porphyria cutanea tarda, liver damage, changes in activities of various liver enzymatic levels, abnormal lipid metabolism, abnormalities of the endocrine and immune systems, and possible teratogenic effects in humans. Moreover, chronic bioassay data indicate that TCDD is one of the most potent carcinogens known. It promotes liver and skin carcinogeneses, and is an initiator for various target organs in rodent test systems. According to the classification system of IARC, the qualitative evidence for carcinogenicity of TCDD is considered to be sufficient in animals and inadequate in humans. Consequently, TCDD has been placed in IARC's 2B category. In the absence of chronic bioassay data on other PCDDs and PCDFs, several TCDD equivalent approaches have been proposed for risk assessment on other congeners or mixtures. The paper compares the various approaches.

  20. Urban Rural Comparisons of Polycystic Ovary Syndrome Burden among Adolescent Girls in a Hospital Setting in India

    PubMed Central

    Balaji, Swetha; Prasad, Satish; Bala Kasav, Jyoti; Upadhyay, Vandana; Singh, Awnish K.; Joshi, Ashish

    2015-01-01

    Background. Polycystic ovarian syndrome (PCOS) is a multifaceted disorder characterized by varying clinical presentations. Objective. The aim of this study was to determine urban and rural differences in the burden of polycystic ovarian syndrome among Indian adolescent females aged 12 to 19 years. Methods. A pilot cross-sectional study was conducted for a period of one month (August-September 2013) at Balaji Hospital, Vellore, Tamil Nadu, India. The final sample included 126 study participants located in various urban (50%, n = 63) and rural (50%, n = 63) settings. Information was gathered on sociodemographic and anthropometric characteristics, clinical history, occurrence of acne and hirsutism, serum testosterone levels, obstetric history, family history of chronic diseases, menstrual history, physical activity, and dietary intake. Results. Eighteen percent of the participants were confirmed of having PCOS by recent guidelines of Rotterdam Consensus for adolescent diagnosis of PCOS (presence of all three elements). Majority of the individuals with PCOS had an average age of 16 (SD = 2) (P = .02) years with an average age of menarche 12 years (SD = 1). Conclusion. The proportion of participants diagnosed with PCOS was higher among urban participants in comparison to rural participants. PMID:25629036

  1. Serenoa repens as an Endocrine Disruptor in a 10-Year-Old Young Girl: A New Case Report.

    PubMed

    Morabito, Paolo; Miroddi, Marco; Giovinazzo, Salvatore; Spina, Edoardo; Calapai, Gioacchino

    2015-01-01

    Serenoa repens, commonly known as saw palmetto, is the sole species currently classified in the genus Serenoa. The plant is a low shrubby palm that is native of West Indies, and it grows in the coastal lands of North America and other European mediterranean countries. Its fruits contain high concentrations of fatty acids and phytosterols. S. repens extracts have been studied for the symptomatic treatment of benign prostatic hyperplasia. Recently, they have been proposed to treat androgenic alopecia and other hair disorders. We report a new case of hot flashes in a 10-year-old girl using a food supplement containing the extract of S. repens for the treatment of hirsutism. When the girl discontinued the treatment, the hot flashes stopped. A 'rechallenge' of the supplement was tried and symptoms reappeared. About 4 months after starting therapy, the girl experienced menarche. Exposure to the plant-derived product could be responsible for the appearance of menarche. In our opinion, use of phytotherapeutic agents in pediatric patients should be associated to a better evaluation of benefit/risk profile taking in account the physiological changes that occurs at different ages in this subgroup of population. PMID:26043832

  2. Metabolic Syndrome: Polycystic Ovary Syndrome.

    PubMed

    Mortada, Rami; Williams, Tracy

    2015-08-01

    Polycystic ovary syndrome (PCOS) is a heterogeneous condition characterized by androgen excess, ovulatory dysfunction, and polycystic ovaries. It is the most common endocrinopathy among women of reproductive age, affecting between 6.5% and 8% of women, and is the most common cause of infertility. Insulin resistance is almost always present in women with PCOS, regardless of weight, and they often develop diabetes and metabolic syndrome. The Rotterdam criteria are widely used for diagnosis. These criteria require that patients have at least two of the following conditions: hyperandrogenism, ovulatory dysfunction, and polycystic ovaries. The diagnosis of PCOS also requires exclusion of other potential etiologies of hyperandrogenism and ovulatory dysfunction. The approach to PCOS management differs according to the presenting symptoms and treatment goals, particularly the patient's desire for pregnancy. Weight loss through dietary modifications and exercise is recommended for patients with PCOS who are overweight. Oral contraceptives are the first-line treatment for regulating menstrual cycles and reducing manifestations of hyperandrogenism, such as acne and hirsutism. Clomiphene is the first-line drug for management of anovulatory infertility. Metformin is recommended for metabolic abnormalities such as prediabetes, and a statin should be prescribed for cardioprotection if the patient meets standard criteria for statin therapy. PMID:26280343

  3. PCOSDB: PolyCystic Ovary Syndrome Database for manually curated disease associated genes

    PubMed Central

    Jesintha Mary, Maniraja; Vetrivel, Umashankar; Munuswamy, Deecaraman; Melanathuru, Vijayalakshmi

    2016-01-01

    Polycystic ovary syndrome (PCOS) is a complex disorder affecting approximately 5–10 percent of all women of reproductive age. It is a multi-factorial endocrine disorder, which demonstrates menstrual disturbance, infertility, anovulation, hirsutism, hyper androgenism and others. It has been indicated that differential expression of genes, genetic level variations, and other molecular alterations interplay in PCOS and are the target sites for clinical applications. Therefore, integrating the PCOS-associated genes along with its alteration and underpinning the underlying mechanism might definitely provide valuable information to understand the disease mechanism. We manually curated the information from 234 published literatures, including gene, molecular alteration, details of association, significance of association, ethnicity, age, drug, and other annotated summaries. PCOSDB is an online resource that brings comprehensive information about the disease, and the implication of various genes and its mechanism. We present the curated information from peer reviewed literatures, and organized the information at various levels including differentially expressed genes in PCOS, genetic variations such as polymorphisms, mutations causing PCOS across various ethnicities. We have covered both significant and non-significant associations along with conflicting studies. PCOSDB v1.0 contains 208 gene reports, 427 molecular alterations, and 46 phenotypes associated with PCOS PMID:27212836

  4. [Treatment outcome using prednisone in corticosteroid-responsive primary nephrotic syndrome in children].

    PubMed

    Brumariu, O; Cucer, Florentina; Munteanu, Mihaela; Haliţchi, Codruţa; Müller, R; Russu, R

    2005-01-01

    In children, the nephrotic syndrome is usually corticoid-responsive; approximately 70% of patients experience relapses, frequently triggered by infections. Our paper presents the results obtained using a 4 month prednisone regimen. This retrospective study included 83 children afflicted with nephrotic syndrome over a 10 year span. We analyzed: age at diagnosis, boys/girls ratio, response to corticoid treatment - after one month of prednisone and at the completion of the treatment course, number of relapses and their frequency, complications of prednisone treatment. The median age at diagnosis was 4.8 years, males predominating M:F = 1.5:1. Complete response after 4 weeks of prednisone therapy was noted in 98.79% of cases. We had 116 episodes of relapses during the first year of follow-up, occurring in 67.4% of children (27.9% were frequent relapsers, 11.62% subsequently became corticoid-dependent). Late relapses, after the first year, occurred in 32.55% of cases. We noted mostly mild adverse effects of the prednisone treatment: occurrence of infections during therapy (16.27%), cushingoid facies (37.2%), hirsutism (4.6%), high blood pressure (4.65%), stretch marks (2.32%). In conclusion, the 4 month prednisone treatment regimen is efficient in inducing and maintaining a remission. The incidence of relapses is 32.55%, comparable to the figure cited in larger studies. Serious adverse effects are significantly lower with this regimen compared to other corticoid treatment schemes. Key wo PMID:16607738

  5. [Specificities of sex-cord stromal tumors in children and adolescents].

    PubMed

    Thebaud, Estelle; Orbach, Daniel; Faure-Conter, Cécile; Patte, Catherine; Hameury, Frederic; Kalfa, Nicolas; Dijoud, Frédérique; Martelli, Hélène; Fresneau, Brice

    2015-06-01

    Sex-cord stromal tumors (SCT) are rare pediatric tumors accounting for less than 5% of gonadal tumors in children and adolescents. They differ from those diagnosed in adults by their presentation, histology, evolution and treatment modalities. Testicular SCT occur mostly in infants less than 6 months. Testicular swelling is often the only symptom, but signs of hormonal secretion with gynecomastia may be present. Juvenile granulosa SCT is the main histologic subtype. Sertoli SCTs are much less frequent while Leydig tumors occurred in older children and adolescents. Prognosis is excellent after inguinal orchiectomy. Testis sparing surgery could be performed but indications and modalities have to be strongly defined. Ovarian SCT are diagnosed in older children and adolescents and present with abdominal symptoms and/or signs of hormonal secretion: estrogenic manifestations (isosexual pseudoprecocity, menometrorrhagia) or virilization (hirsutism, amenorrhea). Main histologic subtype is juvenile granulosa (rarely Sertoli-Leydig). If oophorectomy (or salpingo-oophorectomy) may be curative for localized disease, adjuvant cisplatin-containing chemotherapy is mandatory in case of tumor rupture or peritoneal dissemination to prevent recurrences. Because of the rarity of these pediatric tumors, concerted multidisciplinary cares are required to best adapt therapeutic strategy before any surgical intervention. PMID:26028491

  6. Body Mass Index and Gonadotropin Hormones (LH & FSH) Associate With Clinical Symptoms Among Women With Polycystic Ovary Syndrome

    PubMed Central

    Esmaeilzadeh, Seddigheh; Andarieh, Maryam Ghanbari; Ghadimi, Reza; Delavar, Mouloud Agajani

    2015-01-01

    To evaluate the relevance of body mass index (BMI), luteinizing hormone (LH), follicle-stimulating hormone (FSH) and LH/FSH ratio with clinical symptoms in polycystic ovary syndrome (PCOS) women. Methods: We reviewed the medical records of all women visited in the PCOS Clinic of Babol (Iran) from 2008 to 2012. A retrospective cross-sectional study was conducted on 175 PCOS women; aged 18–38 years diagnosed based on the Rotterdam criteria. Among the PCOs women, the prevalence of oligomenorrhea, acne, and hirsutism were found to be 92.0%, 31.4%, and 78.9%, respectively. Positive finding of polycystic ovaries was observed in 89.1% of PCOS women with by using sonography. A total of 69.2% overweight/obesity patients had polycystic ovary morphology on ultrasound image. Compared with non- overweight/obesity, the adjusted OR of PCOS women for sonographic view of polycystic ovaries was 4.33 (95% CI, 1.42-13.15, p=0.001), Nevertheless, the adjusted odds ratio (OR) showed no significant associations between LH, FSH, and LH/FSH ratio with clinical symptoms in these women. The findings of this study indicated that the overweight/obese women with PCOS are at an increased risk for sonographic view of polycystic ovaries. Therefore, it is suggested that successful weight loss is the most effective method of restoring ovulation, menstruation that should be used as major advice in obese PCOS patients. PMID:25716399

  7. Testosterone and mood dysfunction in women with polycystic ovarian syndrome compared to subfertile controls.

    PubMed

    Barry, John A; Hardiman, Paul J; Saxby, Brian K; Kuczmierczyk, Andrew

    2011-06-01

    Women with polycystic ovarian syndrome (PCOS) have been found to suffer from fertility problems and mood dysfunction. To control for any effect of fertility problems, the present study compared mood dysfunction in women with PCOS to non-PCOS women with fertility problems. Seventy-six women with PCOS and 49 subfertile controls reported their anxiety, depression and aggression levels, and the relationship between mood and testosterone (T) was assessed. Controlling for age and BMI using MANCOVA, women with PCOS were significantly more neurotic (had difficulty coping with stress) than controls, had more anger symptoms, were significantly more likely to withhold feelings of anger and had more quality of life problems related to the symptoms of their condition (acne, hirsutism, menstrual problems and emotions). In a subgroup of 30 women matched on age, BMI and ethnicity, it was found that women with PCOS were significantly more anxious and depressed than controls. T was not generally correlated with mood states. This is the first study to identify problems with neuroticism and withholding anger in women with PCOS. These mood problems appear to be mainly attributable to PCOS symptoms, though other factors, such as hypoglycaemia, cannot be ruled out. PMID:21473679

  8. Photodynamic therapy (PDT) and photodiagnosis (PD) using endogenous photosensitization induced by 5-aminolevulinic acid (ALA): current clinical and development status

    NASA Astrophysics Data System (ADS)

    Marcus, Stuart L.; Sobel, Russel S.; Golub, Allyn L.; Carroll, Ronald L.; Lundahl, Scott L.; Shulman, D. Geoffrey

    1996-04-01

    Exogenous provision of ALA to many tissues results in the accumulation of sufficient quantities of the endogenous photosensitizer protoporphyrin IX, (PpIX), to produce a photodynamic effect. Therefore, ALA may be considered the only current PDT agent in clinical development which is a biochemical precursor of a photosensitizer. Topical ALA application, followed by exposure to activating light (ALA PDT), has been reported effective for the treatment of a variety of dermatologic diseases including cutaneous T-cell lymphoma, superficial basal cell carcinoma, Bowen's disease, and actinic (solar) keratoses, and is also being examined for treatment of acne and hirsutism. PpIX induced by ALA application also may serve as a fluorescence detection marker for photodiagnosis (PD) of malignant and pre- malignant conditions of the urinary bladder and other organs. Local internal application of ALA has also been used for selective endometrial ablation in animal model systems and is beginning to be examined in human clinical studies. Systemic, oral administration of ALA has been used for ALA PDT of superficial head and neck cancer, various gastrointestinal cancers, and the condition known as Barrett's esophagus. This brief paper reviews the current clinical and development status of ALA PDT.

  9. In Vivo Inhibitory Effect on the Biofilm Formation of Candida albicans by Liverwort Derived Riccardin D

    PubMed Central

    Li, Yan; Ma, Yukui; Zhang, Li; Guo, Feng; Ren, Lei; Yang, Rui; Li, Ying; Lou, Hongxiang

    2012-01-01

    Riccardin D, a macrocyclic bisbibenzyl isolated from Chinese liverwort Dumortiera hirsute, has been proved to have inhibitory effect on biofilms formation of Candida albicans in in vitro study. Our present study aims to investigate the in vivo effect and mechanisms of riccardin D against C. albicans biofilms when used alone or in combination with clinical using antifungal agent fluconazole. XTT reduction assay revealed riccardin D had both prophylactic and therapeutic effect against C. albicans biofilms formation in a dose-dependent manner when using a central venous catheter related infective animal model. Scanning electron microscope and laser confocal scanning microscope showed that the morphology of biofilms was altered remarkably after riccardin D treatment, especially hypha growth inhibition. To uncover the underlying molecular mechanisms, quantitative real-time RT-PCR was performed to observe the variation of related genes. The downregulation of hypha-specific genes such as ALS1, ALS3, ECE1, EFG1, HWP1 and CDC35 following riccardin D treatment suggested riccardin D inhibited the Ras-cAMP-Efg pathway to retard the hypha formation, then leading to the defect of biofilms maturation. Moreover, riccardin D displayed an increased antifungal activity when administered in combination with fluconazole. Our study provides a potential clinical application to eliminate the biofilms of relevant pathogens. PMID:22545115

  10. Benefits and risks of oral contraceptives.

    PubMed

    Sherif, K

    1999-06-01

    The major benefits of modern low-dose oral contraceptives include relative safety and a high degree of efficacy, decreasing the need for abortion or surgical sterilization; reduced risks of bacterial (but not viral) pelvic inflammatory disease and of endometrial and ovarian cancer; improved menstrual regularity, with less dysmenorrhea and blood flow; and, when low-dose combination (not progestogen-only) oral contraceptives are used, reduced acne and hirsutism. Major risks are cardiovascular. Preliminary data from nonrandomized studies suggest that oral contraceptives containing third-generation progestogens are associated with increased risk of venous thromboembolism, particularly in carriers of the coagulation factor V Leiden mutation. The risk of arterial thrombosis, such as myocardial infarction or stroke, may be directly related to estrogen dose, particularly in women who have hypertension, smoke, or are >35 years old. Considering that only users aged >/=30 years who smoke >/=25 cigarettes/d have a higher estimated mortality rate than that of pregnant women, the benefits of oral contraceptives appear to outweigh their risks. PMID:10368519

  11. Low birth weight may increase body fat mass in adult women with polycystic ovarian syndrome

    PubMed Central

    Minooee, Sonia; Ramezani Tehrani, Fahimeh; Mirmiran, Parvin; Azizi, Fereidoun

    2016-01-01

    Background: Women engaged with polycystic ovarian syndrome (PCOS), as the commonest endocrine disorder, are known to have a specific type of adiposity. Birth weight is among different contributors reported to be responsible for this diversity. Objective: We aimed to compare the relation between birth weight and body fat mass (BFM)/ body lean mass (BLM) in PCOS and their age and body mass index (BMI) matched normal controls. Materials and Methods: In this case-control study, a total number of 70 reproductive aged women, diagnosed with PCOS and 70 age- BMI matched healthy women without hirsutism and/or ovulatory dysfunction were recruited., control group had no polycystic ovaries in ultrasonographic scans. A detailed history of birth weight was taken and was divided into the following categories: <2,500 (low birth weight, LBW) and 2,500-4,000 (normal birth weight; NBW). Results: Results showed that LBW prevalence was higher in women with PCOS than in controls (19.3% (27) vs. 15.7% (22)). Also body fat and lean mass (BFM, BLM) have increased in adult women with PCOS who were born underweight compared to their normal (19.8±9.05 vs. 12.9±4.5, p=0.001 and 48.9±6.9 vs. 43.2±5.8, p=0.004 respectively). Conclusion: Fetal birth weight influences on the adulthood obesity, BFM and BLM. This impact is different among women with and without PCOS. PMID:27326419

  12. Targeting the ataxia telangiectasia mutated pathway for effective therapy against hirsutine-resistant breast cancer cells

    PubMed Central

    LOU, CHENGHUA; YOKOYAMA, SATORU; ABDELHAMED, SHERIF; SAIKI, IKUO; HAYAKAWA, YOSHIHIRO

    2016-01-01

    The present authors have recently demonstrated that hirsutine, one of the major alkaloids in Uncaria species, promotes cell apoptosis by inducing DNA damage and suppresses metastasis of breast cancer cells. Despite its potent anti-cancer activity, certain types of human breast cancer cells exhibit resistance to hirsutine. To maximize the clinical utility of hirsutine therapy against breast cancer, it is critical to explore the underlying mechanism that protects hirsutine-resistant breast cancer cell lines. To identify potential targets for overcoming hirsutine-resistance, the present study investigated a library of kinase inhibitors in combination with hirsutine treatment in the hirsutine-resistant human breast carcinoma MCF-7 cell line. Amongst the 96 compounds tested, inhibitors of the ataxia telangiectasia mutated (ATM) pathway sensitized MCF-7 cells to hirsutine-induced cell death along with a sustained DNA damage response. This sensitization of MCF-7 cells to the hirsutine-induced DNA damage response by interfering with the ATM pathway did not require p53. Instead, radical oxygen species generation was significantly increased in hirsute and ATM inhibitor-treated MCF-7 cells. In conclusion, the present findings suggest the importance of the ATM pathway for optimizing the anti-cancer effect of hirsutine in breast cancer cells. PMID:27347141

  13. An Update on Plant Derived Anti-Androgens

    PubMed Central

    Grant, Paul; Ramasamy, Shamin

    2012-01-01

    Anti-androgens are an assorted group of drugs and compounds that reduce the levels or activity of androgen hormones within the human body. Disease states in which this is relevant include polycystic ovarian syndrome, hirsutism, acne, benign prostatic hyperplasia, and endocrine related cancers such as carcinoma of the prostate. We provide an overview and discussion of the use of anti-androgen medications in clinical practice and explore the increasing recognition of the benefits of plant-derived anti-androgens, for example, spearmint tea in the management of PCOS, for which some evidence about efficacy is beginning to emerge. Other agents covered include red reishi, which has been shown to reduce levels 5-alpha reductase, the enzyme that facilitates conversion of testosterone to dihydrotestosterone (DHT); licorice, which has phytoestrogen effects and reduces testosterone levels; Chinese peony, which promotes the aromatization of testosterone into estrogen; green tea, which contains epigallocatechins and also inhibits 5-alpha reductase, thereby reducing the conversion of normal testosterone into the more potent DHT; black cohosh, which has been shown to kill both androgenresponsive and non-responsive human prostate cancer cells; chaste tree, which has a reduces prolactin from the anterior pituitary; and saw palmetto extract, which is used as an anti-androgen although it shown no difference in comparison to placebo in clinical trials. PMID:23843810

  14. Morning plasma cortisol is low among obese women with polycystic ovary syndrome.

    PubMed

    Shabir, Iram; Ganie, Mohd Ashraf; Praveen, Edavan P; Khurana, Madan L; John, Jomimol; Gupta, Nandita; Kumar, Guresh; Ammini, Ariachery C

    2013-12-01

    Polycystic ovary syndrome (PCOS) is the most common cause for androgen excess in women. It is associated with wide variety of metabolic disorders. The present study assessed morning plasma cortisol in women with PCOS. One hundred and ninety seven cases and 55 controls were enrolled for this study. The mean age of patients and controls were 23 ± 5.6 years and 25 ± 4.3 years. One hundred twelve (56%) women with PCOS had BMI >25. Serum cortisol levels were significantly higher in lean PCOS women compared to controls (13.4 ± 5.1 versus 11.3 ± 4.5, p < 0.01) and over-weight PCOS women group (13.4 ± 5.1 versus 9.3 ± 3.2, p < 0.01). There was a trend for less acne and hirsutism with increase in BMI. Morning plasma cortisol was lower among obese women with PCOS. Morning plasma cortisol correlated negatively with BMI in PCOS women with normal glucose tolerance. PMID:23957781

  15. Dysbiosis of Gut Microbiota (DOGMA)--a novel theory for the development of Polycystic Ovarian Syndrome.

    PubMed

    Tremellen, Kelton; Pearce, Karma

    2012-07-01

    Polycystic Ovarian Syndrome (PCOS) is the most common cause for menstrual disturbance and impaired ovulation, effecting one in twenty women of reproductive age. As the majority of women with PCOS are either overweight or obese, a dietary or adipose tissue related trigger for the development of the syndrome is quite possible. It has now well established that PCOS is characterised by a chronic state of inflammation and insulin resistance, but the precise underlying triggers for these two key biochemical disturbances is presently unknown. In this paper we present support for a microbiological hypothesis for the development of PCOS. This novel paradigm in PCOS aetiology suggests that disturbances in bowel bacterial flora ("Dysbiosis of Gut Microbiota") brought about by a poor diet creates an increase in gut mucosal permeability, with a resultant increase in the passage of lipopolysaccaride (LPS) from Gram negative colonic bacteria into the systemic circulation. The resultant activation of the immune system interferes with insulin receptor function, driving up serum insulin levels, which in turn increases the ovaries production of androgens and interferes with normal follicle development. Thus, the Dysbiosis of Gut Microbiota (DOGMA) theory of PCOS can account for all three components of the syndrome-anovulation/menstrual irregularity, hyper-androgenism (acne, hirsutism) and the development of multiple small ovarian cysts. PMID:22543078

  16. Aphelochaeta (Polychaeta: Cirratulidae) from the Pacific coast of Costa Rica, with a description of five new species.

    PubMed

    Dean, Harlan K; Blake, James A

    2016-01-01

    Five new species of bitentaculate Cirratulidae belonging to the genus Aphelochaeta are herein described from the Pacific coast of Costa Rica, all from shallow subtidal depths. Aphelochaeta antelonga sp. nov. is characterized by a long biannulate peristomium and fibrillated capillary setae and is from 11-18 m in the Gulf of Nicoya. Aphelochaeta guimondi sp. nov., with a wide dorsal trough in the thorax and hirsute capillaries (visible using SEM), is described from 11-26 m in the Gulf of Nicoya. Aphelochaeta praeacuta sp. nov., with its first peristomial annulation extending as a dorsal crest over the second annulation and first setiger, was collected from 11-28 m in Bahia Culebra. Aphelochaeta striata sp. nov., collected from 11-28 m in the Gulf of Nicoya, is recognized by its narrow body and the transverse blue stripes across the venter of setigers 5-8 produced with methyl green stain. Aphelochaeta zebra sp. nov., collected from a coral reef in Golfo Dulce, is characterized by its expanded posterior end and the darkly staining intersegmental regions using methyl green stain. Additionally, A. glandaria Blake, 1996, a species reportedly with a widespread geographic distribution (Blake, 1996), was also encountered subtidally from the Gulf of Nicoya and Golfo Dulce. PMID:27394621

  17. Mutation detection of CYP21A2 gene in nonclassical congenital adrenal hyperplasia patients with premature pubarche

    PubMed Central

    Kolahdouz, Mahsa; Hashemipour, Mahin; Khanahmad, Hossein; Rabbani, Bahareh; Salehi, Mansoor; Rabbani, Ali; Ansari, Arman; Naseri, Mona Mobalegh

    2016-01-01

    Background: Congenital adrenal hyperplasia (CAH) due to mutations in the gene encoding 21-hydroxilase is one of common disease with an autosomal recessive form. In this study, our aim is to detect the prevalence of eight common mutations in nonclassical congenital adrenal hyperplasia (NCAH). Materials and Methods: A total of 30 patients with clinical and laboratory evidence of NCAH was selected. Gene-specific polymerase chain reaction (PCR) without contamination of pseudogene was carried out, and PCR product of this step was used to amplification-refractory mutation system PCR on eight common mutations in CYP21A2 gene. Results: Two heterozygote patients for I2G mutation and six heterozygote patients for Q318X mutation is reported in our study. These mutations associated with the classic form of CAH, and heterozygotes presented with NC symptom, including premature pubarche and hirsutism. Conclusion: There are some data about the association of the mutation with the clinical form of CAH including classic (salt-wasting and simple virilizing) and NC form. I2G and Q318X mutations were reported in classic form in homozygote state, but the heterozygote form associated with NC form. CAH diagnosis with NC symptom and with measurement of 17-hydroxyprogestrone as NCAH is not a trusted assessment and require to molecular analysis for accurate diagnosis. PMID:27099846

  18. Cornelia de Lange syndrome, cohesin, and beyond

    PubMed Central

    Liu, J; Krantz, ID

    2010-01-01

    Cornelia de Lange syndrome (CdLS) (OMIM #122470, #300590 and #610759) is a dominant genetic disorder with multiple organ system abnormalities which is classically characterized by typical facial features, growth and mental retardation, upper limb defects, hirsutism, gastrointestinal and other visceral system involvement. Mutations in three cohesin proteins, a key regulator of cohesin, NIPBL, and two structural components of the cohesin ring SMC1A and SMC3, etiologically account for about 65% of individuals with CdLS. Cohesin controls faithful chromosome segregation during the mitotic and meiotic cell cycles. Multiple proteins in the cohesin pathway are also involved in additional fundamental biological events such as double-strand DNA break repair and long-range regulation of transcription. Moreover, chromosome instability was recently associated with defective sister chromatid cohesion in several cancer studies, and an increasing number of human developmental disorders is being reported to result from disruption of this pathway. Here, we will discuss the human disorders caused by alterations of cohesin function (termed ‘cohesinopathies’), with an emphasis on the clinical manifestations of CdLS and mechanistic studies of the CdLS-related proteins. PMID:19793304

  19. Macroprolactinemia in a patient with invasive macroprolactinoma: a case report and minireview.

    PubMed

    Elenkova, Atanaska; Abadzhieva, Zdravka; Genov, Nikolai; Vasilev, Vladimir; Kirilov, Georgi; Zacharieva, Sabina

    2013-01-01

    Background. Macroprolactin, the high-molecular prolactin isoform, is considered to be an inactive in vivo product with extrapituitary origin. Patients with macroprolactinemia are usually asymptomatic, with negative pituitary imaging. Based on these data, most authors do not recommend treatment and long-term followup in subjects with macroprolactinemia. However, there is evidence for overlapping clinical features among subjects with hyperprolactinemia due to monomeric or "big big" PRL isoform. Case Presentation. We present a 35-year-old female patient with secondary amenorrhea, mild obesity, hirsutism, headache and blurred vision. Hormonal evaluation revealed an extreme hyperprolactinemia (PRL = 10 610 mIU/L) almost exclusively due to macroprolactin isoform (MPRL = 10 107 mIU/L; recovery after PEG precipitation 4.7%) and hypogonadotropic hypogonadism. An invasive pituitary macroadenoma was visualized on MRI, and cabergoline therapy was initiated. Disappearance of clinical signs and symptoms, normalization of gonadotropin levels, and restoration of regular ovulatory menstrual cycles after 1 year of treatment are arguments in favor of preserved-macroprolactin bioactivity in this case. The significant decrease in MPRL levels and tumor volume in response to dopamine agonist therapy is suggestive for the tumoral origin of this isoform. Conclusions. Although macroprolactinemia is considered to be a benign condition, pituitary imaging, dopamine agonist treatment, and prolonged followup should be recommended in some particular cases. PMID:23401806

  20. Androgenetic alopecia in women.

    PubMed

    Price, Vera H

    2003-06-01

    Androgenetic alopecia (AGA), also known in women as female pattern hair loss, is caused by androgens in genetically susceptible women and men. The thinning begins between ages 12 and 40 years, the inheritance pattern is polygenic, and the incidence is the same as in men. In susceptible hair follicles, dihydrotestosterone binds to the androgen receptor, and the hormone-receptor complex activates the genes responsible for the gradual transformation of large terminal follicles to miniaturized follicles. Both young women and young men with AGA have higher levels of 5alpha reductase and androgen receptor in frontal hair follicles compared to occipital follicles. At the same time, young women have much higher levels of cytochrome p-450 aromatase in frontal follicles than men who have minimal aromatase, and women have even higher aromatase levels in occipital follicles. The diagnosis of AGA in women is supported by early age of onset, the pattern of increased thinning over the frontal/parietal scalp with greater density over the occipital scalp, retention of the frontal hairline, and the presence of miniaturized hairs. Most women with AGA have normal menses and pregnancies. Extensive hormonal testing is usually not needed unless symptoms and signs of androgen excess are present such as hirsutism, severe unresponsive cystic acne, virilization, or galactorrhea. Topical minoxidil solution is the only drug available for promoting hair growth in women with AGA. Efficacy has been shown in double-blind studies using hair counts and hair weight. PMID:12894991

  1. Evolutionary determinants of polycystic ovary syndrome: part 1.

    PubMed

    Ünlütürk, Uğur; Sezgin, Efe; Yildiz, Bulent Okan

    2016-07-01

    Polycystic ovary syndrome (PCOS) is a common and complex genetic disorder that develops under varying degrees of hyperandrogenemic and hyperinsulinemic conditions that cause phenotypic variability ranging from mild hirsutism to anovulation and infertility. In addition to increased risk of reproductive disability, PCOS is associated with metabolic diseases including type 2 diabetes, dyslipidemia, and cardiovascular disease. Similar prevalence rates and shared genetic susceptibility of PCOS among different populations suggest that genetic risk factors were already present in the ancestors of humans. Contemporary human genetic studies inform us that the origin of human ancestors is from Africa. Sharing common susceptibility loci between Chinese and European ancestry suggests that PCOS may have persisted for more than 50,000 years, before the migration of humans out of Africa. Although PCOS is the most common cause of anovulatory infertility, its high prevalence is still a paradox. From an evolutionary perspective, the pathogenic mechanisms underlying PCOS might be candidate factors for survival advantage of the human being. Former compensatory advantageous factors may become pathogenic mechanisms underlying complex metabolic disease with prolonged life expectancy and transition to sedentary lifestyle. PMID:27238626

  2. Polycystic ovary syndrome (PCOS) and other androgen excess-related conditions: can changes in dietary intake make a difference?

    PubMed

    Liepa, George U; Sengupta, Aditi; Karsies, Danielle

    2008-02-01

    Polycystic ovary syndrome (PCOS) is a condition that involves the excess production of androgens. It affects up to 10% of all American women and can lead to the development of acne, hirsutism, and infertility. It has also been associated with coronary heart disease, diabetes, and metabolic syndrome. Over half of the women who are diagnosed with PCOS are overweight or obese. Recommendations are made for overweight/obese women to lose weight via diet and exercise. Women with PCOS should also consider maintaining a diet that is patterned after the type 2 diabetes diet. This diet includes an increase in fiber and a decrease in refined carbohydrates, as well as a decrease in trans and saturated fats and an increase in omega-3 and omega-9 fatty acids. Foods that contain anti-inflammatory compounds (fiber, omega-3 fatty acids, vitamin E, and red wine) should also be emphasized. Evidence is provided for the impact of these dietary changes on improvements in the androgen profile of PCOS patients. PMID:18203965

  3. Treatment options for polycystic ovary syndrome

    PubMed Central

    Badawy, Ahmed; Elnashar, Abubaker

    2011-01-01

    Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women. The clinical manifestation of PCOS varies from a mild menstrual disorder to severe disturbance of reproductive and metabolic functions. Management of women with PCOS depends on the symptoms. These could be ovulatory dysfunction-related infertility, menstrual disorders, or androgen-related symptoms. Weight loss improves the endocrine profile and increases the likelihood of ovulation and pregnancy. Normalization of menstrual cycles and ovulation could occur with modest weight loss as little as 5% of the initial weight. The treatment of obesity includes modifications in lifestyle (diet and exercise) and medical and surgical treatment. In PCOS, anovulation relates to low follicle-stimulating hormone concentrations and the arrest of antral follicle growth in the final stages of maturation. This can be treated with medications such as clomiphene citrate, tamoxifen, aromatase inhibitors, metformin, glucocorticoids, or gonadotropins or surgically by laparoscopic ovarian drilling. In vitro fertilization will remain the last option to achieve pregnancy when others fail. Chronic anovulation over a long period of time is also associated with an increased risk of endometrial hyperplasia and carcinoma, which should be seriously investigated and treated. There are androgenic symptoms that will vary from patient to patient, such as hirsutism, acne, and/or alopecia. These are troublesome presentations to the patients and require adequate treatment. Alternative medicine has been emerging as one of the commonly practiced medicines for different health problems, including PCOS. This review underlines the contribution to the treatment of different symptoms. PMID:21339935

  4. The physiological basis of complementary and alternative medicines for polycystic ovary syndrome.

    PubMed

    Raja-Khan, Nazia; Stener-Victorin, Elisabet; Wu, XiaoKe; Legro, Richard S

    2011-07-01

    Polycystic ovary syndrome (PCOS) is a common endocrine disorder that is characterized by chronic hyperandrogenic anovulation leading to symptoms of hirsutism, acne, irregular menses, and infertility. Multiple metabolic and cardiovascular risk factors are associated with PCOS, including insulin resistance, obesity, type 2 diabetes, hypertension, inflammation, and subclinical atherosclerosis. However, current treatments for PCOS are only moderately effective at controlling symptoms and preventing complications. This article describes how the physiological effects of major complementary and alternative medicine (CAM) treatments could reduce the severity of PCOS and its complications. Acupuncture reduces hyperandrogenism and improves menstrual frequency in PCOS. Acupuncture's clinical effects are mediated via activation of somatic afferent nerves innervating the skin and muscle, which, via modulation of the activity in the somatic and autonomic nervous system, may modulate endocrine and metabolic functions in PCOS. Chinese herbal medicines and dietary supplements may also exert beneficial physiological effects in PCOS, but there is minimal evidence that these CAM treatments are safe and effective. Mindfulness has not been investigated in PCOS, but it has been shown to reduce psychological distress and exert positive effects on the central and autonomic nervous systems, hypothalamic-pituitary-adrenal axis, and immune system, leading to reductions in blood pressure, glucose, and inflammation. In conclusion, CAM treatments may have beneficial endocrine, cardiometabolic, and reproductive effects in PCOS. However, most studies of CAM treatments for PCOS are small, nonrandomized, or uncontrolled. Future well-designed studies are needed to further evaluate the safety, effectiveness, and mechanisms of CAM treatments for PCOS. PMID:21487075

  5. Complications of Cushing's syndrome: state of the art.

    PubMed

    Pivonello, Rosario; Isidori, Andrea M; De Martino, Maria Cristina; Newell-Price, John; Biller, Beverly M K; Colao, Annamaria

    2016-07-01

    Cushing's syndrome is a serious endocrine disease caused by chronic, autonomous, and excessive secretion of cortisol. The syndrome is associated with increased mortality and impaired quality of life because of the occurrence of comorbidities. These clinical complications include metabolic syndrome, consisting of systemic arterial hypertension, visceral obesity, impairment of glucose metabolism, and dyslipidaemia; musculoskeletal disorders, such as myopathy, osteoporosis, and skeletal fractures; neuropsychiatric disorders, such as impairment of cognitive function, depression, or mania; impairment of reproductive and sexual function; and dermatological manifestations, mainly represented by acne, hirsutism, and alopecia. Hypertension in patients with Cushing's syndrome has a multifactorial pathogenesis and contributes to the increased risk for myocardial infarction, cardiac failure, or stroke, which are the most common causes of death; risks of these outcomes are exacerbated by a prothrombotic diathesis and hypokalaemia. Neuropsychiatric disorders can be responsible for suicide. Immune disorders are common; immunosuppression during active disease causes susceptibility to infections, possibly complicated by sepsis, an important cause of death, whereas immune rebound after disease remission can exacerbate underlying autoimmune diseases. Prompt treatment of cortisol excess and specific treatments of comorbidities are crucial to prevent serious clinical complications and reduce the mortality associated with Cushing's syndrome. PMID:27177728

  6. The impact of the weight status on subjective symptomatology of the Polycystic Ovary Syndrome: a cross-cultural comparison between Brazilian and Austrian women.

    PubMed

    Hashimoto, D M; Schmid, J; Martins, F M; Fonseca, A M; Andrade, L H; Kirchengast, S; Eggers, S

    2003-09-01

    Group differences in symptomatology and symptom perception of young women ageing between 18 and 32 years suffering from polycystic ovarian syndrome (PCOS) were tested according to cultural background and weight status. In detail 31 Austrian women, living in Carinthia, Austria, and 102 Brazilian women, living in São Paulo, Brazil, were enrolled in the present study. All participants suffered from diagnosed PCOS. The prevalence of hirsutism, infertility, menstrual disturbances and overweight/obesity and their individual impact on health related quality of life were analysed. Furthermore the impact of weight status (BMI) on symptom perception was tested. It turned out, that the Brazilian sample exhibited higher prevalence of PCOS symptoms and these symptoms had a more negative impact on quality of life. The only exception was body weight. Although significantly leaner, the Austrian women showed a higher Cronin score of body weight than their Brazilian counterparts. The results of the present study may indicate that in western industrialized societies the fear of overweight is much more prevalent than in a developing country such as Brazil and thus it has more influence on the quality of life than all the other symptoms. PMID:14524003

  7. Sexually antagonistic epigenetic marks that canalize sexually dimorphic development.

    PubMed

    Rice, William R; Friberg, Urban; Gavrilets, Sergey

    2016-04-01

    The sexes share the same autosomal genomes, yet sexual dimorphism is common due to sex-specific gene expression. When present, XX and XY karyotypes trigger alternate regulatory cascades that determine sex-specific gene expression profiles. In mammals, secretion of testosterone (T) by the testes during foetal development is the master switch influencing the gene expression pathways (male vs. female) that will be followed, but many genes have sex-specific expression prior to T secretion. Environmental factors, like endocrine disruptors and mimics, can interfere with sexual development. However, sex-specific ontogeny can be canalized by the production of epigenetic marks (epimarks) generated during early ontogeny that increase sensitivity of XY embryos to T and decrease sensitivity of XX embryos. Here, we integrate and synthesize the evidence indicating that canalizing epimarks are produced during early ontogeny. We will also describe the evidence that such epimarks sometimes carry over across generations and produce mosaicism in which some traits are discordant with the gonad. Such carryover epimarks are sexually antagonistic because they benefit the individual in which they were formed (via canalization) but harm opposite-sex offspring when they fail to erase across generations and produce gonad-trait discordances. SA-epimarks have the potential to: i) magnify phenotypic variation for many sexually selected traits, ii) generate overlap along many dimensions of the masculinity/femininity spectrum, and iii) influence medically important gonad-trait discordances like cryptorchidism, hypospadias and idiopathic hirsutism. PMID:26600375

  8. Non-Contraceptive Benefits of Oral Hormonal Contraceptives

    PubMed Central

    Schindler, Adolf E

    2012-01-01

    Abstract It is becoming evident that oral hormonal contraceptives-besides being well established contraceptives-seem to become important medications for many functional or organic disturbances. So far, clinical effectiveness has been shown for treatment as well as prevention of menstrual bleeding disorders and menstrual-related pain symptoms. Also this is true for premenstrual syndrome (PMS) and premenstrual disphoric disorder (PMDD). Particular oral contraceptives (OCs) containing anti-androgenic progestogens were shown to be effective medications for treatment of androgenisation symptoms (seborrhea, acne, hirsutism, alopecia). Through perfect suppression of the hypothalamic-pituitary-ovarian axis OCs have proven to be effective in elimination of persistent follicular cysts. Endometriosis/adenomyosis related pain symptoms are well handled similar to other drugs like Gonadotropine Releasing Hormone agonists but are less expensive, with less side effects, and possibility to be used for longer periods of time. This is also true for myoma. Pelvic inflammatory disease, rheumatoid arthritis, menstrual migraine, and onset of multiple sclerosis are prevented or delayed. Bone density is preserved and asthma symptoms improved. Endometrial hyperplasia and benign breast disease can be controlled. There is definitely a significant impact on risk reduction regarding endometrial, ovarian, and colon cancers. In conclusion, it needs to be recognized that oral combined hormonal contraceptives (estrogen/ progestogen combination) are - besides being reliable forms of contraception - are cost-effective medications for many medical disorders in women. Therefore, these contraceptives drugs are important for female and global health and should be used in clinical practice. PMID:23853619

  9. Safety, efficacy, actions, and patient acceptability of drospirenone/ethinyl estradiol contraceptive pills in the treatment of premenstrual dysphoric disorder

    PubMed Central

    Breech, Lesley L; Braverman, Paula K

    2010-01-01

    Premenstrual dysphoric disorder (PMDD) is estimated to affect 3%–8% of reproductive age women. Multiple therapeutic modalities have been evaluated with varying efficacy for the associated somatic and mood symptoms. The majority of older studies had shown that oral contraceptive pills (OCs) were most effective for the physical symptoms. However, newer OCs containing a novel progestin, drospirenone, have shown promise in alleviating both the somatic and affective/behavioral symptoms. This progestin, which is a derivative of spironolactone, has both antimineralocorticoid and antiandrogenic activity. A 24/4 formulation containing 20 μg of ethinyl estradiol has been found effective in randomized double-blind placebo-controlled trials utilizing established scales documenting symptoms associated with PMDD. Multiple studies have shown that drospirenone-containing OCs are safe without evidence of clinically adverse effects on carbohydrate metabolism, lipids, blood pressure, weight, serum potassium or increased thrombotic events compared to other low dose OCs. In addition, significant improvements have been demonstrated in acne, hirsutism, and fluid retention symptoms. Several open label studies demonstrated good patient compliance and reported satisfaction with the method. Because of the significant placebo effect demonstrated in the blinded placebo-controlled trials, additional large randomized placebo-controlled trials are needed to confirm the efficacy of the drospirenone OCs in the treatment of PMDD. However, this OC formulation appears to be a promising therapeutic modality. PMID:21072278

  10. Combined hormonal contraceptives: prescribing patterns, compliance, and benefits versus risks

    PubMed Central

    2014-01-01

    Combined hormonal contraceptives [combined oral contraceptives (COCs)] have been available for over 50 years and the impact of this invention may not be overestimated. Today over 100 million women are current users and in Western Europe and the United States approximately 80% of women of fertile ages can be considered as ever-users. Over the years several drawbacks have been identified and media alarms on risks are frequently presented, resulting in suboptimal compliance and low compliance and continuation rates. Poor compliance and discontinuation is a big problem and is not generally identified by prescribers. During ideal use COCs offer very good protection against unwanted pregnancies, however there is a big problem with compliance and continuation and thus the ‘real-life’ efficacy is much lower. Reasons for poor compliance include side effects and fear of side effects and it is crucial that the prescriber gives the individual woman thorough and balanced information on the benefits and risks. Most well known is the increased risk of venous thromboembolism, but also an elevated risk of arterial thrombosis and several types of cancer has been reported. The risk estimates are low but according to the large number of users a substantial number of extra cases will occur. However, use of COCs also offers several additional health benefits with significant impact on morbidity and quality of life. COC use is associated with a substantial decrease in the risk of ovarian cancer, endometrial cancer and colorectal cancer. Moreover, COCs are a major option of treatment for women suffering from heavy menstrual bleeding and dysmenorrhea as well as hirsutism and acne vulgaris. The net effect of the additional health effects of COC- use may very well be positive, i.e. a slight increase in life expectancy. PMID:25360241

  11. Commentary on 2,3,7,8-tetrachlorodibenzo-para-dioxin (TCDD).

    PubMed

    Mofenson, H; Becker, C; Kimbrough, R; Lawrence, R; Lovejoy, F; Winters, W; Carracio, T R; Hardel, L K; Rumack, B H; Spyker, D

    1985-10-01

    There is deep concern about the long term health effects of exposure to phenoxy herbicides and the contaminant TCDD; however, there is considerable scientific and medical uncertainty regarding the health effects from exposure to these chemicals. There are at least ten ongoing studies on reproduction, morbidity and mortality as well as studies of tissue concentrations of TCDD that are attempting to determine the health effects of these chemicals (see Table 2). Appropriate efforts should be made to prevent human and environmental exposure and to decontaminate the environment while awaiting the results of these investigations. Animal toxicity studies show such wide variations that extrapolations from a different species to humans are tenuous. Human studies on exposed workers and nonoccupational exposures are difficult to interpret because the exposure has not been quantified and because workers were exposed to mixtures of chemicals. Chloracne appears to be an important specific clinical marker of TCDD exposure, however, it can be caused by structurally similar compounds. Many of the past studies on human health effects of 2,4,5-T and TCDD are controversial. Since the scientific data are not firm, no specific statements can be made regarding the long term health effects at this time. Any individual who has had a significant exposure to TCDD should see his/her physician and have appropriate consultation. Long term follow up will be required. Physicians should be instructed regarding the possible manifestations of TCDD exposure to look for chloracne, soft tissue masses, muscle pain, fatigue, peripheral neuropathy, tender hepatic enlargement, enlargement, elevated liver enzymes, elevated lipids, prolonged prothrombin time, hemorrhagic cystitis and hirsutism.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:4060565

  12. Diagnosis of adrenal tumors with radionuclide imaging

    SciTech Connect

    Beierwaltes, W.H.; Sisson, J.C.; Shapiro, B.

    1984-01-01

    The development of radiolabeled cholesterols in 1969 as precursors of adrenocortical steroid production allowed the first noninvasive imaging of the adrenal cortices. FDA-NDA approval in 1984 should allow routine use of these agents in most hospitals. NP-59 is most commonly used in the diagnosis and management of Cushing syndrome; the second most common use is in the diagnosis of primary aldosteronism. It is also helpful in the differential diagnosis of adrenal and ovarian hyperandrogenism and hirsutism, and is the only noninvasive method of detecting unilateral adrenocortical hypofunction. The newest and most popular use is in the differential diagnosis of asymptomatic masses in the region of the adrenal gland discovered incidentally with CT scan (incidentalomas). In this situation, the NP-59 scan can define whether the tumor is in the adrenal gland and if it is functional or nonfunctional. The authors believe that, in the future, radiolabeled enzyme inhibitors might offer better diagnostic imaging of the adrenal cortex, although these agents will probably not be available for routine use for some time. The development of a radioiodinated guanethidine analog, /sup 131/I-MIBG, has allowed differentiation of normal adrenal medullary function from bilateral adrenal medullary hyperplasia before the development of hypertension or tachycardia, diagnostic increases in plasma or urinary catecholamines, or abnormal CT scans. The search for a pheochromocytoma should begin with /sup 131/I-MIBG scintigraphy. While over 90% of primary pheochromocytomas occur in the abdomen, neither a survey of the abdomen nor the finding of a single tumor should conclude the search.

  13. A case of lean polycystic ovary syndrome with early stage of type 1 diabetes successfully treated with metformin [Rapid Communication].

    PubMed

    Shigiyama, Fumika; Kumashiro, Naoki; Rikitake, Takayuki; Usui, Shuki; Saegusa, Michiko; Kitamura, Mamoru; Uchino, Hiroshi; Hirose, Takahisa

    2016-02-29

    Polycystic ovary syndrome (PCOS) is common in obese women with insulin resistant type 2 diabetes for which metformin treatment is getting established in addition to clomiphene. However, lean PCOS patients are sometimes accompanied with type 1 diabetes. It remains unclear whether these patients are insulin resistant and whether metformin is effective for them. A 32-year-old woman, who suffered from acne, hirsutism, and menstrual disorders since age 29, was diagnosed as PCOS by serum high LH levels and polycystic ovary on echography. Interestingly, her body mass index (BMI) had consistently been 21.0 kg/m(2) since age 20. She was first treated with clomiphene for one year for infertility but it did not improve her menstrual cycle nor did she get pregnant during that period. She was then assessed with diabetes mellitus and subsequently diagnosed as type 1 diabetes with mild hyperglycemia (HbA1c 6.0%). Since her insulin secretion was still well preserved, to assess insulin sensitivity, hyperinsulinemic-euglycemic clamp test was performed and showed her to be insulin resistant. Low dose insulin and low dose metformin treatment was started without clomiphene. After her ovulation and menstrual cycle were ameliorated only one month later, her treatment was supplemented with clomiphene for the next three months enabling her to at last become pregnant. This report highlights the efficacy of metformin in lean PCOS with type 1 diabetes. Insulin therapy is essential for type 1 diabetes but hyperinsulinemia potentially exacerbates PCOS through hyperandrogenism. Metformin is therefore recommended for treatment of lean PCOS with type 1 diabetes as well as common obese PCOS with type 2 diabetes. PMID:26765270

  14. Cross-species sensitivity to a novel androgen receptor agonist of potential environmental concern, spironolactone.

    PubMed

    LaLone, Carlie A; Villeneuve, Daniel L; Cavallin, Jenna E; Kahl, Michael D; Durhan, Elizabeth J; Makynen, Elizabeth A; Jensen, Kathleen M; Stevens, Kyle E; Severson, Megan N; Blanksma, Chad A; Flynn, Kevin M; Hartig, Philip C; Woodard, Jonne S; Berninger, Jason P; Norberg-King, Teresa J; Johnson, Rodney D; Ankley, Gerald T

    2013-11-01

    Spironolactone is a pharmaceutical that in humans is used to treat conditions like hirsutism, various dermatologic afflictions, and female-pattern hair loss through antagonism of the androgen receptor. Although not routinely monitored in the environment, spironolactone has been detected downstream of a pharmaceutical manufacturer, indicating a potential for exposure of aquatic species. Furthermore, spironolactone has been reported to cause masculinization of female western mosquitofish, a response indicative of androgen receptor activation. Predictive methods to identify homologous proteins to the human and western mosquitofish androgen receptor suggest that vertebrates would be more susceptible to adverse effects mediated by chemicals like spironolactone that target the androgen receptor compared with invertebrate species that lack a relevant homolog. In addition, an adverse outcome pathway previously developed for activation of the androgen receptor suggests that androgen mimics can lead to reproductive toxicity in fish. To assess this, 21-d reproduction studies were conducted with 2 fish species, fathead minnow and Japanese medaka, and the invertebrate Daphnia magna. Spironolactone significantly reduced the fecundity of medaka and fathead minnows at 50 μg/L, whereas daphnia reproduction was not affected by concentrations as large as 500 μg/L. Phenotypic masculinization of females of both fish species was observed at 5 μg/L as evidenced by formation of tubercles in fathead minnows and papillary processes in Japanese medaka. Effects in fish occurred at concentrations below those reported in the environment. These results demonstrate how a priori knowledge of an adverse outcome pathway and the conservation of a key molecular target across vertebrates can be utilized to identify potential chemicals of concern in terms of monitoring and highlight potentially sensitive species and endpoints for testing. PMID:23881739

  15. Developmental regression in ring chromosome 20 syndrome: A prion disease?

    SciTech Connect

    Aughton, D.J.

    1994-09-01

    Since 1972, the occurrence of r(20) has been described in at least 22 patients. In contrast to the relatively early-onset and nonprogressive developmental delay typical of chromosomal syndromes generally, the development of patients with r(20) is often normal for many months or even years, and developmental regression has been observed in at least 3 cases. Herein I present a further instance of developmental regression associated with r(20), and suggest that such regression may owe to disruption of function of the prion protein gene [PRNP], which has been mapped to 20pter-p12. The proposita was born at 33 weeks of gestation but had a relatively uncomplicated neonatal course; her early development was normal. By age 8-2/12 years, she appeared to have some cognitive deficits; by age 9-7/12 years, she was considered to have educable mental retardation, with a behavior disorder. On physical examination at age 9-8/12 years, her weight was between p10 and p25, and her head circumference was ca. p50. She had very mild coarseness and hirsutism, but was not dysmorphic. Extensive investigation was largely unremarkable; however, fragile X chromosome analysis at age 11-6/12 years showed a 46,XX,r(20) karyotype [fra(X) negative] in each of 50 cells examined. The maternal karyotype was mos46,XX/46,XX,r(20). Molecular analysis of PRNP is in progress. Rivers et al. reported a progressive neurological disorder associated with a telomeric fusion 15p;20p, and suggested that the disorder might be secondary to the presence of a pathogenic isoform of the prion protein. I suggest that a similar mechanism may be responsible for the neurodegeneration sometimes associated with r(20) syndrome. Molecular analysis of PRNP in patients with r(20) syndrome and, when possible, pathologic examination of central nervous system tissue of these patients will be helpful in further assessing this hypothesis.

  16. Predictors of Acquired Lipodystrophy in Juvenile-Onset Dermatomyositis and a Gradient of Severity

    PubMed Central

    Bingham, April; Mamyrova, Gulnara; Rother, Kristina I.; Oral, Elif; Cochran, Elaine; Premkumar, Ahalya; Kleiner, David; James-Newton, Laura; Targoff, Ira N.; Pandey, Janardan P.; Carrick, Danielle Mercatante; Sebring, Nancy; O’Hanlon, Terrance P.; Ruiz-Hidalgo, Maria; Turner, Maria; Gordon, Leslie B.; Laborda, Jorge; Bauer, Steven R.; Blackshear, Perry J.; Imundo, Lisa; Miller, Frederick W.; Rider, Lisa G.

    2009-01-01

    We describe the clinical features of 28 patients with juvenile dermatomyositis (JDM) and 1 patient with adult-onset dermatomyositis (DM), all of whom developed lipodystrophy (LD) that could be categorized into 1 of 3 phenotypes, generalized, partial, or focal, based on the pattern of fat loss distribution. LD onset was often delayed, beginning a median of 4.6 years after diagnosis of DM. Calcinosis, muscle atrophy, joint contractures, and facial rash were DM disease features found to be associated with LD. Panniculitis was associated with focal lipoatrophy while the anti-p155 autoantibody, a newly described myositis-associated autoantibody, was more associated with generalized LD. Specific LD features such as acanthosis nigricans, hirsutism, fat redistribution, and steatosis/nonalcoholic steatohepatitis were frequent in patients with LD, in a gradient of frequency and severity among the 3 sub-phenotypes. Metabolic studies frequently revealed insulin resistance and hypertriglyceridemia in patients with generalized and partial LD. Regional fat loss from the thighs, with relative sparing of fat loss from the medial thighs, was more frequent in generalized than in partial LD and absent from DM patients without LD. Cytokine polymorphisms, the C3 nephritic factor, insulin receptor antibodies, and lamin mutations did not appear to play a pathogenic role in the development of LD in our patients. LD is an under-recognized sequela of JDM, and certain DM patients with a severe, prolonged clinical course and a high frequency of calcinosis appear to be at greater risk for the development of this complication. High-risk JDM patients should be screened for metabolic abnormalities, which are common in generalized and partial LD and result in much of the LD-associated morbidity. Further study is warranted to investigate the pathogenesis of acquired LD in patients with DM. PMID:18344805

  17. Association of plasma GDF-9 or GDF-15 levels with bone parameters in polycystic ovary syndrome.

    PubMed

    Berberoglu, Zehra; Aktas, Aynur; Fidan, Yasemin; Yazici, Ayse Canan; Aral, Yalcin

    2015-01-01

    We aimed to determine plasma levels of growth and differentiation factor (GDF)-9 and GDF-15, and their possible association with bone turnover parameters and bone mineral density (BMD), in patients with polycystic ovary syndrome (PCOS). Forty-two obese PCOS women aged 25-35 years, 23 women with idiopathic hirsutism (IH) and 20 healthy controls matched for age and body mass index were enrolled. Anthropometric, metabolic and hormonal patterns, plasma GDF-9 and GDF-15 concentrations, bone turnover markers and BMD were measured. No significant differences were observed in bone turnover markers, BMD measurements, plasma GDF-9 and GDF-15 levels in subjects with PCOS compared with the other two groups. In the combined population of all three groups, GDF-15 concentrations were negatively correlated with osteocalcin (r = -0.317, p < 0.01). Analysis of PCOS patients showed a significant correlation of GDF-15 concentrations with age and homeostasis model assessment index (r = 0.319, p < 0.05, and r = 0.312, p < 0.05, respectively). In addition, GDF-15 concentrations were negatively correlated with osteocalcin (r = -0.395, p < 0.01) and positively correlated with urine deoxypyridinoline (r = 0.353, p < 0.05). GDF-9 did not correlate with bone markers and BMD measurements. In conclusion, plasma GDF-9 and GDF-15 levels as well as bone turnover markers and BMD measurements in subjects with PCOS (25-35 years of age) were comparable with those either in subjects with IH or in healthy controls with similar anthropometric and metabolic profiles. GDF-15 might be a marker of a crossregulation between bone and energy metabolism. PMID:24430093

  18. Acne: effect of hormones on pathogenesis and management.

    PubMed

    Shaw, James C

    2002-01-01

    In the pathogenesis of acne, androgen hormones play a crucial role. In the treatment of acne, hormonal therapies provide valuable alternatives to standard modalities in selected women. Although numerous factors contribute to the development of acne, the requirement for androgens is absolute and is one that allows for effective treatments in women through inhibition of androgen expression. The two prerequisites for androgen expression at the level of the pilosebaceous unit are the presence of androgen in the form of either testosterone or dihydrotestosterone; and functioning androgen receptors. A third component may be the metabolism of androgen precursors to active androgens within pilosebaceous units. Hormonal treatment of hyperandrogenism (acne, hirsutism, androgenetic alopecia) such as that seen in polycystic ovary syndrome, centers on reduction of circulating androgen levels and androgen receptor blockade. Combination oral contraceptives represent the primary treatment modality for reducing circulating androgens from ovarian and, to a lesser degree, adrenal sources. Newer formulations may also have clinically significant androgen receptor blocking and 5alpha-reductase inhibiting effects. Newer oral contraceptives have high safety profiles and are used widely internationally for this purpose. Androgen receptor blockers currently in use include spironolactone, cyproterone acetate, and flutamide. Androgen receptor blockers are frequently combined with oral contraceptives to achieve optimal results in selected women. In women with adrenal hyperplasia, low-dose corticosteroids may be added to reduce adrenal androgen precursors. Inhibition of enzymes of androgen metabolism in the pilosebaceous unit remain largely investigational in the treatment of acne, although the benefit of 5alpha-reductase (type 2) inhibition is established in androgenetic alopecia in men. This article reviews the essentials of hormonal influence in acne pathogenesis, discusses the hormonal

  19. A case of Cushing's syndrome due to bilateral cortisol-secreting adenomas with unilateral DHEAS oversecretion.

    PubMed

    Monno, Satoshi; Tachikawa, Takamitsu; Maekawa, Takashi; Sasano, Hironobu

    2015-01-01

    A 39-year-old Japanese woman presented with typical clinical symptoms of Cushing's syndrome, including amenorrhea and hirsutism, for 2 years. The results of her initial endocrine evaluation were consistent with ACTH-independent Cushing's syndrome due to bilateral adrenal masses (diameters of 3.1 cm and 2.4 cm on the left and right, respectively). Serum dehydroepiandrosterone levels were 6,901 ng/mL (normal range 230-2,660 ng/mL). Bilateral laparoscopic adrenalectomies were performed (left adrenalectomy first and right adrenalectomy 3 months later). Following the left adrenalectomy, the results of the endocrine evaluations were still consistent with a diagnosis of ACTH-independent Cushing's syndrome. Serum dehydroepiandrosterone sulphate levels, however, were below the normal range (143 ng/mL). Unexpectedly, the patient's menstruation resumed 2.5 months after the left adrenalectomy. Pathological examination of the resected glands showed bilateral adrenocortical adenomas, one on the left with a diameter of 3 cm, and two on the right with diameters of 0.7 cm and 1.3 cm. Immunohistochemical analysis revealed side chain cleavage, 17α-hydroxylase, 3β-hydroxysteroid dehydrogenase, and 21-hydroxylase immunoreactivity in each adenoma. Dehydroepiandrosterone-sulfotransferase immunoreactivity was pronounced in the left adenoma, less pronounced in one of the right adenoma and weak in the other right adenoma. These results were consistent with clinical endocrine findings. Ours is the first case of a patient with bilateral cortisol-secreting adenomas with unilateral oversecretion of dehydroepiandrosterone sulphate. Resumption of menstruation after the correction of the dehydroepiandrosterone-sulphate excess, despite persistent cortisol excess, indicates the importance of adrenal androgens for the regulation of the menstrual cycle. PMID:25736067

  20. 17-Hydroxyprogesterone in children, adolescents and adults.

    PubMed

    Honour, John W

    2014-07-01

    17-Hydroxyprogesterone (17-OHP) is an intermediate steroid in the adrenal biosynthetic pathway from cholesterol to cortisol and is the substrate for steroid 21-hydroxylase. An inherited deficiency of 21-hydroxylase leads to greatly increased serum concentrations of 17-OHP, while the absence of cortisol synthesis causes an increase in adrenocorticotrophic hormone. The classical congenital adrenal hyperplasia (CAH) presents usually with virilisation of a girl at birth. Affected boys and girls can have renal salt loss within a few days if aldosterone production is also compromised. Diagnosis can be delayed in boys. A non-classical form of congenital adrenal hyperplasia (NC-CAH) presents later in life usually with androgen excess. Moderately raised or normal 17-OHP concentrations can be seen basally but, if normal and clinical suspicion is high, an ACTH stimulation test will show 17-OHP concentrations (typically >30 nmol/L) above the normal response. NC-CAH is more likely to be detected clinically in females and may be asymptomatic particularly in males until families are investigated. The prevalence of NC-CAH in women with androgen excess can be up to 9% according to ethnic background and genotype. Mutations in the 21-hydroxylase genes in NC-CAH can be found that have less deleterious effects on enzyme activity. Other less-common defects in enzymes of cortisol synthesis can be associated with moderately elevated 17-OHP. Precocious puberty, acne, hirsutism and subfertility are the commonest features of hyperandrogenism. 17-OHP is a diagnostic marker for CAH but opinions differ on the role of 17OHP or androstenedione in monitoring treatment with renin in the salt losing form. This review considers the utility of 17-OHP measurements in children, adolescents and adults. PMID:24711560

  1. Cornelia de Lange syndrome with NIPBL mutation and mosaic Turner syndrome in the same individual

    PubMed Central

    2012-01-01

    Background Cornelia de Lange syndrome (CdLS) is a dominantly inherited disorder characterized by facial dysmorphism, growth and cognitive impairment, limb malformations and multiple organ involvement. Mutations in NIPBL gene account for about 60% of patients with CdLS. This gene encodes a key regulator of the Cohesin complex, which controls sister chromatid segregation during both mitosis and meiosis. Turner syndrome (TS) results from the partial or complete absence of one of the X chromosomes, usually associated with congenital lymphedema, short stature, and gonadal dysgenesis. Case presentation Here we report a four-year-old female with CdLS due to a frameshift mutation in the NIPBL gene (c.1445_1448delGAGA), who also had a tissue-specific mosaic 45,X/46,XX karyotype. The patient showed a severe form of CdLS with craniofacial dysmorphism, pre- and post-natal growth delay, cardiovascular abnormalities, hirsutism and severe psychomotor retardation with behavioural problems. She also presented with minor clinical features consistent with TS, including peripheral lymphedema and webbed neck. The NIPBL mutation was present in the two tissues analysed from different embryonic origins (peripheral blood lymphocytes and oral mucosa epithelial cells). However, the percentage of cells with monosomy X was low and variable in tissues. These findings indicate that, ontogenically, the NIPBL mutation may have appeared before the mosaic monosomy X. Conclusions The coexistence in several patients of these two rare disorders raises the issue of whether there is indeed a cause-effect association. The detailed clinical descriptions indicate predominant CdLS phenotype, although additional TS manifestations may appear in adolescence. PMID:22676896

  2. Exclusion of Linkage to the CDL1 Gene Region on Chromosome 3q26.3 in Some Familial Cases of Cornelia de Lange Syndrome

    PubMed Central

    Krantz, Ian D.; Tonkin, Emma; Smith, Melanie; Devoto, Marcella; Bottani, Armand; Simpson, Claire; Hofreiter, Mary; Abraham, Vinod; Jukofsky, Lori; Conti, Brian P.; Strachan, Tom; Jackson, Laird

    2016-01-01

    Cornelia de Lange Syndrome (CdLS) is a complex developmental disorder consisting of characteristic facial features, limb abnormalities, hirsutism, ophthalmologic involvement, gastroesophageal dysfunction, hearing loss, as well as growth and neuro-developmental retardation. Most cases of CdLS appear to be sporadic. Familial cases are rare and indicate autosomal dominant inheritance. Several individuals with CdLS have been reported with chromosomal abnormalities, suggesting candidate genomic regions within which the causative gene(s) may lie. A CdLS gene location (CDL1) has been assigned to 3q26.3 based on phenotypic overlap with the duplication 3q syndrome (critical region 3q26.2-q27) and the report of a CdLS individual with a balanced de novo t(3;17)(q26.3;q23.1). It has been postulated that a gene within the dup3q critical region results in the CdLS when deleted or mutated. We have performed a linkage analysis to the minimal critical region for the dup3q syndrome (that encompasses the translocation breakpoint) on chromosome 3q in 10 rare familial cases of CdLS. Nineteen markers spanning a region of approximately 40 Mb (37 cM) were used. Results of a multipoint linkage analysis demonstrated total lod-scores that were negative across the chromosome 3q26-q27 region. In 4/10 families, lod-scores were less than −2 in the 2 cM region encompassing the translocation, while in the remaining 6/10 families, lod-scores could not exclude linkage to this region. These studies indicate that in some multicase families, the disease gene does not map to the CDL1 region at 3q26.3. PMID:11391654

  3. Comparison of efficacy of metformin and oral contraceptive combination of ethinyl estradiol and drospirenone in polycystic ovary syndrome

    PubMed Central

    Suvarna, Yashasvi; Maity, Nivedita; Kalra, Pramila; Shivamurthy, MC

    2016-01-01

    Objective The 2013 Endocrine Society guidelines state that hormonal contraceptives should be used for treating both menstrual irregularity and hirsutism in patients with polycystic ovary syndrome (PCOS). Metformin should be reserved for the treatment of women presenting with only menstrual irregularity because it has limited benefits in treating hyperandrogenism associated with PCOS. A high prevalence of insulin resistance is noted among the South Asians, and these guidelines may not hold good for this population. Thus, this study was conducted to investigate and compare the effects of metformin and an oral contraceptive containing drospirenone on menstrual pattern, body mass index, serum testosterone levels, and dehydroepiandrosterone sulfate (DHEAS) levels at baseline to 6 months of therapy in the treatment groups. Material and Methods This was a prospective observational study that was conducted over a year in patients visiting the Endocrinology outpatient department at a tertiary care center in a south Indian city. Forty-six subjects diagnosed with PCOS as per the Rotterdam criteria were included. They received either metformin twice daily or an oral contraceptive containing drospirenone once daily as a monthly regimen for 6 months. Results Metformin regularized menstrual cycles in 72% of patients who were followed up at 6 months. No significant difference was observed between the two treatment groups with respect to decreasing the body mass index, serum testosterone levels, and DHEAS levels (p=0.40, p=0.65, and p=0.22, respectively). Conclusion Metformin is effective in regularizing menstrual cycles, decreasing body mass index, and treating hyperandrogenism in Indian women diagnosed with PCOS. PMID:27026772

  4. Recommendations for Treatment of Nonclassic Congenital Adrenal Hyperplasia (NCCAH): an Update

    PubMed Central

    Trapp, Christine M.; Oberfield, Sharon E.

    2013-01-01

    Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders. 21-hydroxylase deficiency, in which there are mutations in CYP21A2 (the gene encoding the adrenal 21-hydroxylase enzyme), is the most common form (90%) of CAH. In classic CAH there is impaired cortisol production with diagnostic increased levels of 17-OH progesterone. Excess androgen production results in virilization and in the newborn female may cause development of ambiguous external genitalia. Three-fourths of patients with classic CAH also have aldosterone insufficiency, which can result in salt-wasting; in infancy this manifests as shock, hyponatremia and hyperkalemia. CAH has a reported incidence of 1:10,000–1:20,000 births although there is an increased prevalence in certain ethnic groups. Nonclassic CAH (NCCAH) is a less severe form of the disorder, in which there is 20–50% of 21-hydroxylase enzyme activity (vs. 0–5% in classic CAH) and no salt wasting. The degree of symptoms related to androgen excess is variable and may be progressive with age, although some individuals are asymptomatic. NCCAH has an incidence of 1:1000–1:2000 births (0.1–0.2% prevalence) in the White population; an even higher prevalence is noted in certain ethnic groups such as Ashkenazi Jews (1–2%). As many as two-thirds of persons with NCCAH are compound heterozygotes and carry a severe and mild mutation on different alleles. This paper discusses the genetics of NCCAH, along with its variable phenotypic expression, and reviews the clinical course in untreated patients, which includes rapid early childhood growth, advanced skeletal age, premature adrenarche, acne, impaired reproductive function in both sexes and hirsutism as well as menstrual disorders in females. Finally, it addresses treatment with glucocorticoids vs. and other alternatives, particularly with respect to long term issues such as adult metabolic disease including insulin resistance, cardiovascular disease, metabolic syndrome

  5. The Diagnosis of Polycystic Ovary Syndrome in Adolescents.

    PubMed

    Rosenfield, Robert L

    2015-12-01

    Consensus has recently been reached by international pediatric subspecialty societies that otherwise unexplained persistent hyperandrogenic anovulation using age- and stage-appropriate standards are appropriate diagnostic criteria for polycystic ovary syndrome (PCOS) in adolescents. The purpose of this review is to summarize these recommendations and discuss their basis and implications. Anovulation is indicated by abnormal uterine bleeding, which exists when menstrual cycle length is outside the normal range or bleeding is excessive: cycles outside 19 to 90 days are always abnormal, and most are 21 to 45 days even during the first postmenarcheal year. Continued menstrual abnormality in a hyperandrogenic adolescent for 1 year prognosticates at least 50% risk of persistence. Hyperandrogenism is best indicated by persistent elevation of serum testosterone above adult norms as determined in a reliable reference laboratory. Because hyperandrogenemia documentation can be problematic, moderate-severe hirsutism constitutes clinical evidence of hyperandrogenism. Moderate-severe inflammatory acne vulgaris unresponsive to topical treatment is an indication to test for hyperandrogenemia. Treatment of PCOS is symptom-directed. Cyclic estrogen-progestin oral contraceptives are ordinarily the preferred first-line medical treatment because they reliably improve both the menstrual abnormality and hyperandrogenism. First-line treatment of the comorbidities of obesity and insulin resistance is lifestyle modification with calorie restriction and increased exercise. Metformin in conjunction with behavior modification is indicated for glucose intolerance. Although persistence of hyperandrogenic anovulation for ≥2 years ensures the distinction of PCOS from physiologic anovulation, early workup is advisable to make a provisional diagnosis so that combined oral contraceptive treatment, which will mask diagnosis by suppressing hyperandrogenemia, is not unnecessarily delayed. PMID

  6. Treatment of epilepsy in women of childbearing age.

    PubMed

    Taly, A B; Sharda, C; Mohan, P K

    1985-05-01

    This article updates the literature on the treatment of epilepsy in women of reproductive age. Specific areas discussed include the effect of menstruation on seizure frequency, use of oral contraceptives (OCs), the effect of pregnancy on epilepsy, the effect of seizures on pregnancy and the fetus, the impact of antiepileptic drugs on the fetus, medical termination of pregnancy, breast feeding, and the risk of epilepsy in offspring. Exacerbtion of seizure activity is often seen in premenstrual and menstrual phases, and cyclic use of acetazolamide and/or progesterone (which exerts a protective effect against seizures) is recommended. OCs appear to have only a minor impact on epilepsy and the metabolism of antiepileptic drugs. On the other hand, these drugs can influence the metabolism and effectiveness of OCs. Concomitant use of OCs and antiepileptics can result in a higher incidence of acne and hirsutism, increased intermenstrual bleeding, and failure of contraception. The incidence of contraceptive failure is higher with low-dose estrogen OCs. In general, pregnancy appears to have an unfavorable effect on cerebral dysrrhythmia in epileptics. Possible causes for the increase in seizure frequency during pregnancy include psychological, hormonal, metabolic, and pharmacokinetic factors. The effect of epilepsy and antiepileptics on offspring is unclear. There appears to be an increased risk of spontaneous abortion and stillbirths in women taking antiepileptic drugs. In addition, a 3-fold increase in the incidence of congenital malformations has been noted in these women. The risks of birth defects are greater when there is a family history of birth defects, when the father is also epileptic, when a previous pregnancy resulted in a malformed child, when seizures during pregnancy are poorly controlled, and when multipel antiepileptic drugs are used in high doses. Although offspring may inherit the epileptic trait, they do not always manifest the disease. PMID:4044506

  7. A virilizing Leydig cell tumor of the ovary associated with stromal hyperplasia under gonadotropin control.

    PubMed

    Marcondes, J A; Nery, M; Mendonça, B B; Hayashida, S A; Halbe, H W; Carvalho, F M; Wajchenberg, B L

    1997-12-01

    A 34-yr-old nulliparous black woman presented with hair loss, facial hirsutism, irregular menses and infertility associated with greatly increased serum total testosterone levels. The adrenal glands and the ovaries were normal on radiological and ultrasonographic investigation. Catheterization of the veins draining from the adrenal glands and the ovaries yielded testosterone levels of 20.3 nmol/L and 20.0 nmol/L in the right and the left adrenal veins, respectively, and 17.9 nmol/L and 27.4 nmol/L in the right and left ovaries venous plexus, respectively. Sequencial dexamethasone and ethynyl estradiol suppression test showed a decrease in cortisol level with no change in total testosterone level on dexamethasone while an increase in testosterone from 10.5 nmol/L to 20.1 nmol/L was observed ten days after ethynil estradiol had been associated to dexamethasone. When a gonadotropin-releasing hormone agonist (gonadorelin 3.5 mg i.m.) was administered for 2 months, serum gonadotropins levels decreased to less than 2 IU/L, total testosterone to 3.8 nmol/L and estradiol to less than 36 pmol/L. The patient was submitted to a pelvic exploratory laparotomy and a left salpingo-oophorectomy was performed. A solid and circumscribed ovarian tumor of 1.0 cm in diameter was found. The pathological diagnosis was a Leydig cell tumor with surrounding stromal hyperplasia. These findings may suggest that this tumor was gonadotropin-dependent being indirectly stimulated by ethynil estradiol, through a sensitization of the pituitary gonadotropes and increase in gonadotropin levels and suppressed by a gonadotropin-releasing hormone agonist. PMID:9492110

  8. The association of obesity with infertility and related menstural abnormalities in women.

    PubMed

    Hartz, A J; Barboriak, P N; Wong, A; Katayama, K P; Rimm, A A

    1979-01-01

    Historical data from 26 638 20-to 40-year women were used to study the association between obesity and menstrual abnormalities including evidence of infertility. It was found that women with evidence of anovulatory cycles, ie, irregular cycles greater than 36 days, and hirsutism, were more than 30 lb (13.6 kg) heavier than women with no menstrual abnormalities after adjusting for height and age. The percentage of women with evidence of anovulatory cycles was 2.6 per cent for women less than 20 per cent overweight, 4.0 per cent for women 20-49 per cent overweight, 5.8 per cent for women 50-74 per cent overweight., and 8.4 per cent for women more than 74 per cent overweight Women with a single menstrual abnormality including cycles greater than 36 days, irregular cycles, virile hair growth with facial hair, or heavy flow were also significantly heavier than women with normal values for these factors. A longer duration of obesity was associated with facial hair. Another analysis found that teenage obesity was greater for never-pregnant married women than for previously pregnant married women and for women having ovarian surgery for polycystic ovaries than for women having ovarian surgery for other reasons. This also supports an association of obesity with anovulatory cycles. These findings showing evidence of abnormal ovulation, menstrual abnormalities and excess hair growth in obese women may be explained by the recent studies of others demonstrating an association between obesity and hormonal imbalances. PMID:528119

  9. Bilateral adrenalectomy for Cushing's syndrome: Pros and cons

    PubMed Central

    Prajapati, O. P.; Verma, A. K.; Mishra, A.; Agarwal, G.; Agarwal, A.; Mishra, S. K.

    2015-01-01

    Aim: To assess the outcome of patients undergoing bilateral adrenalectomy for Cushing's syndrome (CS). Methods: All patients who underwent bilateral adrenalectomy for CS at the Department of Endocrine Surgery, Sanjay Gandhi Postgraduate Institute of Medical Sciences hospital between 1991 and 2013 were included. Medical records were reviewed to obtain patient characteristics and follow-up data. Results: Twenty-seven patients were studied. Mean age was 28.74 ± 12.95 years (range 9–60), male:female ratio was 1.7:1. About half that is, 48.19% were of Cushing's disease (failed trans-sphenoidal surgery [TSS]), 37.04% were of ectopic CS (ECS), and 14.81% were of CS due to bilateral adrenal pathology. Median follow-up period was 80.5 months. Before surgery, 74.1% patients had body mass index > which after surgery declined to <25 in 75% of them. Hypertension was present in 85.2% and after surgery resolved in 40%. Diabetes mellitus was present in 44.4% and after surgery resolved in 33% of them. Hirsutism and proximal muscle weakness were present in 55.6% and 70.4% patients, respectively, and after surgery improved markedly in all patients. Adrenal crisis developed in 36.3% and Nelson's syndrome in 41.7% patients during follow-up. Three patients died in perioperative period while three succumbed to the disease during follow-up. Two patients developed recurrence of endogenous cortisol production during the follow-up period. Conclusions: Bilateral adrenalectomy is a valid treatment option for palliating severe symptoms in Pituitary Cushing's with failed TSS and unlocalized ECS but the procedure is curative for CS due to bilateral adrenal disease. Overall morbidity and mortality is higher than other endocrine operations. Co-morbidities tend to be more severe and are a risk factor for mortality during the time patient survives. PMID:26693437

  10. [Subjective and objective aspects of modern methods of contraception].

    PubMed

    Molitor, M P

    1975-05-01

    Copper IUDs, oral contraceptives, "morning-after' pills and injectables are discussed in general in this review. Small IUDs are less effective, but better tolerated. An exception is the Dalkon shield, which is no longer manufactured because several women died from latent infections when they became pregnant. The Copper T IUD is tolerated much better than the Copper 7, and has only a 3% failure rate. Copper Ts must be replaced every 2 years, however, and are difficult to remove. A beneficial effect of IUDs is cure of uterine adhesions; a subjective side effect if discomfort reported by husbands. Strict contraindications or oral contraceptives are history of cholostatic jaundice of pregnancy, thromboembolism, essential hypertension, tension, diabetes, gynecologic cancer and pregnancy. Relative contraindications are hyperthyroidism, hyperlipidemia, and depression. Depressions occuring soon after starting pills may be due to unconscious rejection; those appearing later may be due to the progestagen itself. The subjective sequelae of pills are more likely in maternal women, women raised to feel guilty for using contraception, women susceptible to believing sensational media reports about pills, and women dominated by their husband's views. Pills are beneficial for essential dysmenorrhea, menstrual irregularity, premenstrual syndrome, depression, frigidity due to fear of pregnancy, uterine hypotrophy, ovarian cyst, certain ovarian dystrophies such as Stein Levinthan syndrome, menopausal symptoms, acne and hirsutism. The morning after pill, 5 mg ethinyl estradiol for 3 consecutive days, is indicated only in exceptional cases such as rape. Injectables are more suitable for those who desire long-term contraception and whose who want no more children. A lower cancer rate has been reported for users of depot progestagens than for women notu sing contraception. PMID:1149175

  11. MECHANISMS IN ENDOCRINOLOGY: Medical consequences of doping with anabolic androgenic steroids: effects on reproductive functions.

    PubMed

    Nieschlag, Eberhard; Vorona, Elena

    2015-08-01

    Anabolic androgenic steroids (AASs) are appearance and performance-enhancing drugs (APEDs) used in competitive athletics, in recreational sports, and by body-builders. The global lifetime prevalence of AASs abuse is 6.4% for males and 1.6% for women. Many AASs, often obtained from the internet and dubious sources, have not undergone proper testing and are consumed at extremely high doses and in irrational combinations, also along with other drugs. Controlled clinical trials investigating undesired side effects are lacking because ethical restrictions prevent exposing volunteers to potentially toxic regimens, obscuring a causal relationship between AASs abuse and possible sequelae. Because of the negative feedback in the regulation of the hypothalamic-pituitary-gonadal axis, in men AASs cause reversible suppression of spermatogenesis, testicular atrophy, infertility, and erectile dysfunction (anabolic steroid-induced hypogonadism). Should spermatogenesis not recover after AASs abuse, a pre-existing fertility disorder may have resurfaced. AASs frequently cause gynecomastia and acne. In women, AASs may disrupt ovarian function. Chronic strenuous physical activity leads to menstrual irregularities and, in severe cases, to the female athlete triad (low energy intake, menstrual disorders and low bone mass), making it difficult to disentangle the effects of sports and AASs. Acne, hirsutism and (irreversible) deepening of the voice are further consequences of AASs misuse. There is no evidence that AASs cause breast carcinoma. Detecting AASs misuse through the control network of the World Anti-Doping Agency (WADA) not only aims to guarantee fair conditions for athletes, but also to protect them from medical sequelae of AASs abuse. PMID:25805894

  12. Risk factors in facial hyperpigmentation in Maghrebian population - a case-control study.

    PubMed

    Benchikhi, H; Atide, N; Jroundi, I; Humbert, P; Lakhdar, H

    2012-10-01

    Triggering factors seem to be multiple in the pathogenesis of facial hyperpigmentation (FH), as dark skin types, pregnancy, sun exposure… The aim of this study was to investigate the risk factors for FH in Maghrebian population. Patients with FH were included in a case-controlled study. Following data were recorded: age, sex, parity, phototype, FH and hormonal-related history, endocrinological features, sunlight exposure, specific cultural behaviours, use of topic corticosteroids and sunscreens. One hundred women (mean age 29.5 ± 13.7 years) were included with 200 age-matched controls. Duration of FH was 32.9 ± 42.2 months. There was a statistically significant relation between FH and hirsutism (P = 0.009), troubles of menstruations (P = 0.008), but not with acne (P = 0.23) and contraceptive oral (P = 0.06) drugs or with history of thyroid disorders (P = 0.13). For cultural factors, there were a statistical significant relation with rubbing by flannel glove (P < 0.05), use of dark soap (P = 0.009) and traditional masks (P < 0.05) but both groups were used to go to hammam. A strong relation was observed between FH and use of topical corticosteroids: 40% in the FH group vs. 5% in the control group (P < 0.05). Both groups used to apply sunscreens: 70% in the FH group and 67% in the control group where as there were no differences in the two groups for sun exposure. No statistical differences were observed regarding to age, phototypes and grade of parity. Our study demonstrated a relation between FH and hyperestrogenemia, rubbing with a friction glove, use of moroccan traditional masks and application of topical steroids. The eviction of all these triggering factors could be an adjuvant recommendation in the assessment of FH. PMID:22784199

  13. Exposure to combined oral contraceptives and risk of venous thromboembolism: a protocol for nested case–control studies using the QResearch and the CPRD databases

    PubMed Central

    Vinogradova, Yana; Coupland, Carol; Hippisley-Cox, Julia

    2014-01-01

    Introduction Many studies have found an increased risk of venous thromboembolism (VTE) associated with the use of combined hormonal contraceptives, but various methodologies have been used in the study design relating to definition of VTE event and the selection of appropriate cases for analysis. This study will focus on common oral hormonal contraceptives, including compositions with cyproterone because of their contraceptive effect and will perform a number of sensitivity analyses to compare findings with previous studies. Methods and analysis 2 nested case–control studies will be based on the general population using records from UK general practices within the QResearch and Clinical Practice Research Datalink databases. Cases will be female patients aged 15–49 with primary VTE diagnosed between 2001 and 2013. Each case will be matched by age, year of birth and practice to five female controls, who are alive and registered with the practice at the time of diagnosis of the case (index date). Exposure to different hormonal contraceptives will be defined as at least one prescription for that contraceptive in the year before the index date. The effects of duration and the length of any gap since last use will also be investigated. Conditional logistic regression will be applied to calculate ORs adjusted for smoking, ethnicity, comorbidities and use of other medications. Possible indications for prescribing hormonal contraceptives, such as menstrual disorders, acne or hirsutism will be included in the analyses as confounding factors. A number of sensitivity analyses will be carried out. Ethics and dissemination The initial protocol has been reviewed and approved by ISAC (Independent Scientific Advisory Committee) for Medicine and Healthcare Products Regulatory Agency Database Research. The project has also been reviewed by QResearch and meets the requirements of the Trent Research Ethics Committee. The results will be published in a peer-reviewed journal. PMID

  14. Correlation between serum adiponectin and clinical characteristics, biochemical parameters in Indian women with polycystic ovary syndrome

    PubMed Central

    Ramanand, Sunita J.; Ramanand, Jaiprakash B.; Ghongane, Balasaheb B.; Patwardhan, Milind H.; Patwardhan, Varsha M.; Ghanghas, Ravi; Halasawadekar, Nimish R.; Patil, Praveenkumar

    2014-01-01

    Background: Polycystic ovary syndrome (PCOS) is a common disorder. PCOS women are at a high risk for insulin resistance and metabolic syndrome (MS). Adiponectin is positively related to insulin sensitivity. It has a preventive role in atherogenesis and MS. The present work was conducted to study the correlation between serum adiponectin levels and clinical characteristics and biochemical parameters in PCOS patients. Materials and Methods: A prospective study in 49 newly diagnosed (as per Rotterdam criteria) Indian PCOS women was conducted. PCOS women were clinically examined and investigated for biochemical parameters. Results: The mean serum adiponectin was 12 ± 9.4 μg/mL (range 0.47-45). Hypoadiponectinemia (serum adiponectin <4 μg/mL) was present in 22% patients. Age and adiponectin correlated significantly and inversely (r = −0.42, P = 0.027). Overweight/obese patients had lower mean adiponectin levels than normal weight (11.62 ± 9.5 vs 13.58 ± 9.5, P = 0.56). It was significantly lower in patients with acanthosis nigricans (AN) as compared with those without AN (8.4 ± 5.9 vs 15 ± 11, P = 0.038). Hirsute patients showed lower mean adiponectin levels than nonhirsute (10 ± 7.3 vs 13 ± 10, P = 0.57). A positive, insignificant correlation was observed between serum adiponectin and cholesterol, low-density lipoprotein, follicle stimulating hormone (FSH), thyroid stimulating hormone, levels. A negative insignificant correlation existed between serum adiponectin and luteinizing hormone (LH), LH: FSH ratio, prolactin, dehydroepiandrosterone, testosterone, triglyceride, high-density lipoprotein, fasting blood glucose, fasting insulin, and Homeostasis Model Assessment. Conclusion: Hypoadiponectinemia is present in one-fifth of women with PCOS. Adiponectin levels decrease as age advances. Low levels of adiponectin possibly contributes to the development of dermal manifestation (AN) of insulin resistance. PMID:24741521

  15. Prevalence of polycystic ovary syndrome and its associated complications in Iranian women: A meta-analysis

    PubMed Central

    Jalilian, Anahita; Kiani, Faezeh; Sayehmiri, Fatemeh; Sayehmiri, Kourosh; Khodaee, Zahra; Akbari, Malihe

    2015-01-01

    Background: Polycystic ovary syndrome (PCOS) is the most common endocrine disorder in women of reproductive age and is the most common cause of infertility due to anovulation. There is no single criterion for the diagnosis of this syndrome. Objective: The purpose of this study was to investigate the prevalence of PCOS and its associated complications in Iranian women using meta-analysis method. Materials and Methods: Prevalence of PCOS was investigated from the SID, Goggle scholar, PubMed, Magiran, Irandoc, and Iranmedex, and weighting of each study was calculated according to sample size and prevalence of the binomial distribution. Data were analyzed using a random-effects model meta-analysis (Random effects model) and the software R and Stata Version 11.2. Results: 30 studies conducted between the years 2006 to 2011 were entered into meta-analysis. The total sample size was 19, 226 women aged between 10-45 years. The prevalence of PCOS based on National institute of child health and human disease of the U.S was, 6.8% (95 % CI: 4.11–8.5), based on Rotterdam was 19.5% (95 % CI: 2.24-8.14), and based on ultrasound was 4.41% (95% CI: 5.68-4.14). Also, the prevalence of hirsutism was estimated to be 13%, acne 26%, androgenic alopecia 9%, menstrual disorders 28%, overweight 21%, obesity 19%, and infertility 8%. Conclusion: The prevalence of PCOS in Iran is not high. However, given the risk of complications such as heart disease - cardiovascular and infertility, prevention of PCOS is important; we suggest that health officials must submit plans for the community in this respect. PMID:26644787

  16. Asymptomatic Volunteers with a Polycystic Ovary Are a Functionally Distinct but Heterogeneous Population

    PubMed Central

    Mortensen, Monica; Ehrmann, David A.; Littlejohn, Elizabeth; Rosenfield, Robert L.

    2009-01-01

    Context/Objective: Our objective was to determine the ovarian function of asymptomatic volunteers with a polycystic ovary (V-PCO). Participants: Non-hirsute eumenorrheic V-PCO (n = 32) and volunteers with ultrasonographically normal ovaries (V-NO) (n = 21) were compared with one another and with polycystic ovary syndrome (PCOS) patients who met National Institute of Health criteria (n = 90). Design/Setting/Interventions: GnRH agonist (GnRHag), ACTH, and oral glucose tolerance tests were prospectively performed in a General Clinical Research Center. Results: The distribution of 17-hydroxyprogesterone (17OHP) responses to GnRHag of V-PCO formed a distinct population intermediate between that of V-NO, the reference population, and PCOS. Nevertheless, the V-PCO population was heterogeneous. There were 53% (seventeen of 32) that were functionally normal, with 17OHP responses and free testosterone levels like V-NO. A total of 25% (eight of 32) had an elevated free testosterone, thus meeting Rotterdam criteria for PCOS; one third of these had 17OHP hyperresponsiveness to GnRHag testing. The remaining 22% (seven of 32) had 17OHP hyperresponsiveness to GnRHag, but normal free testosterone. Of PCOS, 69% had elevated 17OHP hyperresponsiveness to GnRHag. Ovarian volume correlated significantly with 17OHP responses only in PCOS, accounting for just 10% of the variance. Conclusions: Many asymptomatic volunteers have a PCO. They are a distinct, but heterogeneous, population with respect to ovarian function, ranging from normal (53%) to occult PCOS by Rotterdam criteria (25%). Nearly one quarter (22%) had the typical PCOS type of ovarian dysfunction without hyperandrogenemia, termed a “dysregulated PCO”; they or their offspring may be at risk for PCOS. Ovarian ultrasonographic characteristics must be considered when establishing norms for ovarian function. PMID:19240158

  17. The influence of medical conditions associated with hormones on the risk of breast cancer.

    PubMed

    Moseson, M; Koenig, K L; Shore, R E; Pasternack, B S

    1993-12-01

    Medical conditions related to hormonal abnormalities were investigated in a case-control study of breast cancer among women who attended a screening centre. Information was obtained by telephone interview regarding physician-diagnosed medical conditions such as thyroid or liver diseases, diabetes, and hypertension, as well as hirsutism, acne, galactorrhoea, and reproductive, menstrual, and gynaecological factors. Results are presented for 354 cases and 747 controls. Women with fertility problems who never succeeded in becoming pregnant were at significantly increased breast cancer risk (adjusted odds ratio [OR] = 3.5; 95% confidence interval [CI]:1.1-10.9). An elevated cancer risk was also associated with having excess body hair (OR = 1.5; 95% CI:1.0-2.3), or having excess body hair in addition to persistent adult acne (OR = 6.8; 95% CI:1.7-27.1). Recurrent amenorrhea (OR = 3.5; 95% CI:1.1-11.5), and a treated hyperthyroid condition (OR = 2.2; 95% CI:1.1-4.4) were significantly associated with risk. A non-significant elevation of risk was present for endometrial hyperplasia (OR = 1.8; 95% CI: 0.8-4.0). There was a suggestion of an association between a history of galactorrhoea and breast cancer risk (OR = 2.0; 95% CI:0.8-4.9) among premenopausal women. No associations were found with other medical or gynaecological factors. The possibility that some of these findings are due to chance cannot be excluded because of the problem of multiple comparisons. PMID:8144280

  18. Rooster feathering, androgenic alopecia, and hormone-dependent tumor growth: what is in common?

    PubMed

    Mayer, Julie Ann; Chuong, Cheng-Ming; Widelitz, Randall

    2004-12-01

    Different epithelial organs form as a result of epithelial-mesenchymal interactions and share a common theme modulated by variations (Chuong ed. In Molecular Basis of Epithelial Appendage Morphogenesis, 1998). One of the major modulators is the sex hormone pathway that acts on the prototype signaling pathway to alter organ phenotypes. Here, we focus on how the sex hormone pathway may interface with epithelia morphogenesis-related signaling pathways. We first survey these sex hormone-regulated morphogenetic processes in various epithelial organs. Sexual dimorphism of hairs and feathers has implications in sexual selection. Diseases of these pathways result in androgenic alopecia, hirsutism, henny feathering, etc. The growth and development of mammary glands, prostate glands, and external genitalia essential for reproductive function are also dependent on sex hormones. Diseases affecting these organs include congenital anomalies and hormone-dependent breast and prostate cancers. To study the role of sex hormones in new growth in the context of system biology/pathology, an in vivo model in which organ formation starts from stem cells is essential. With recent developments (Yu et al. (2002) The morphogenesis of feathers. Nature 420:308-312), the growth of tail feathers in roosters and hens has become a testable model in which experimental manipulations are possible. We show exemplary data of differences in their growth rate, proliferative cell population, and signaling molecule expression. Working hypotheses are proposed on how the sex hormone pathways may interact with growth pathways. It is now possible to test these hypotheses using the chicken model to learn fundamental mechanisms on how sex hormones affect organogenesis, epithelial organ cycling, and growth-related tumorigenesis. PMID:15617560

  19. Spontaneous resolution of avascular necrosis of femoral heads following cure of Cushing’s syndrome

    PubMed Central

    Crowther, S; Govender, P; Conlon, K C; Sherlock, M; Gibney, J

    2016-01-01

    Summary Avascular necrosis (AVN) is a rare presenting feature of endogenous hypercortisolism. If left untreated, complete collapse of the femoral head may ensue, necessitating hip replacement in up to 70% of patients. The majority of the described patients with AVN due to endogenous hypercortisolaemia required surgical intervention. A 36-year-old female, investigated for right leg pain, reported rapid weight gain, bruising and secondary amenorrhoea. She had abdominal adiposity with violaceous striae, facial plethora and hirsutism, atrophic skin, ecchymosis and proximal myopathy. Investigations confirmed cortisol excess (cortisol following low-dose 48h dexamethasone suppression test 807nmol/L; 24h urinary free cortisol 1443nmol (normal<290nmol)). Adrenocorticotrophic hormone (ACTH) was <5.0pg/mL. CT demonstrated subtle left adrenal gland hypertrophy. Hypercortisolaemia persisted after left adrenalectomy. Histology revealed primary pigmented micronodular adrenal disease. Post-operatively, right leg pain worsened and left leg pain developed, affecting mobility. MRI showed bilateral femoral head AVN. She underwent right adrenalectomy and steroid replacement was commenced. Four months after surgery, leg pain had resolved and mobility was normal. Repeat MRI showed marked improvement of radiological abnormalities in both femoral heads, consistent with spontaneous healing of AVN. We report a case of Cushing’s syndrome due to primary pigmented nodular adrenocortical disease, presenting with symptomatic AVN of both hips. This was managed conservatively from an orthopaedic perspective. Following cure of hypercortisolaemia, the patient experienced excellent recovery and remains symptom free 4 years after adrenalectomy. This is the first report of a favourable outcome over long-term follow-up of a patient with bilateral AVN of the hip, which reversed with treatment of endogenous hypercortisolaemia. Learning points AVN of femoral head can be a presenting feature of

  20. Effects of Gastric Bypass Surgery on Female Reproductive Function

    PubMed Central

    Dodson, William C.; Gnatuk, Carol L.; Estes, Stephanie J.; Kunselman, Allen R.; Meadows, Juliana W.; Kesner, James S.; Krieg, Edward F.; Rogers, Ann M.; Haluck, Randy S.; Cooney, Robert N.

    2012-01-01

    Context: Reproductive function may improve after bariatric surgery, although the mechanisms and time-related changes are unclear. Objective: The objective of the study was to determine whether ovulation frequency/quality as well as associated reproductive parameters improve after Roux en Y gastric bypass surgery. Design: This was a prospective cohort study that enrolled female subjects from 2005 to 2008 with study visits at baseline and then 1, 3, 6, 12, and up to 24 months after surgery. Setting: The study was conducted at an academic health center. Patients: Twenty-nine obese, reproductive-aged women not using confounding medications participated in the study. Main Outcome Measures: The primary outcome was integrated levels of urinary progestin (pregnanediol 3-glururonide) from daily urinary collections at 12 months postoperatively. Secondary outcomes were changes in vaginal bleeding, other biometric, hormonal, ultrasound, dual-energy x-ray absorptiometry measures, and Female Sexual Function Index. Results: Ninety percent of patients with morbid obesity had ovulatory cycles at baseline, and the ovulatory frequency and luteal phase quality (based on integrated pregnanediol 3-glururonide levels) were not modified by bariatric surgery. The follicular phase was shorter postoperatively [6.5 d shorter at 3 months and 7.9–8.9 d shorter at 6–24 months (P < 0.01)]. Biochemical hyperandrogenism improved, largely due to an immediate postoperative increase in serum SHBG levels(P < 0.01), with no change in clinical hyperandrogenism (sebum production, acne, hirsutism). Bone density was preserved, contrasting with a significant loss of lean muscle mass and fat (P < 0.001), reflecting preferential abdominal fat loss (P < 0.001). Female sexual function improved 28% (P = 0.02) by 12 months. Conclusions: Ovulation persists despite morbid obesity and the changes from bypass surgery. Reproductive function after surgery is characterized by a shortened follicular phase and improved

  1. Comparison of Metformin and Simvastatin Administration in Women With Polycystic Ovary Syndrome Before Intra-Cytoplasmic Sperm Injection Cycle: A Prospective, Randomized, Clinical Trial Study

    PubMed Central

    Pourmatroud, Elham; Mohammadjafari, Razieh; Roozitalab, Mandana

    2015-01-01

    Background: Drugs administration as a pretreatment regiment before ICSI cycle in PCOs patients could enhance the success rate. Objectives: The aim of this study was to compare the effectiveness of metformin with Simvastatin in patients with polycystic ovary syndrome (PCOs) candidates for intra-cytoplasmic sperm injection (ICSI) before starting the cycle. Patients and Methods: In this prospective, double blind, randomized clinical trial the efficacy of these drugs was evaluated in 40 women with PCO syndrome (20 patients in each group; A: simvastatin and B: metformin) candidates for ICSI. In the both groups, metformin and simvastatin administrated for eight weeks before starting the ICSI cycle. Endocrine, metabolic and clinical parameters were measured before and after drug therapy; also, the results of ICSI cycle evaluated in the both groups. Results: Both drugs improved hirsutism score significantly, but simvastatin better than metformin (Group A, 24.5 ± 3.6 P: 0.0001 VS Group B, 22.9 ± 5.9 P: 0.003). The reduction in body mass index (BMI) was not significant in the groups. Simvastatin reduced some biochemical parameters such as FSH, LH, testosterone, total cholesterol, LDL and increased HDL level significantly, whereas metformin decreased FSH, TG, testosterone and total cholesterol significantly. Overall, respectively 35% and 30% of patients treated with metformin and Simvastatin became pregnant. There was no significant difference between the effects of these two drugs on ICSI cycle results like oocyte in meiosis2 (M2) phase (1.35 ± 1.6 vs. 2 ± 3.87, P value: 0.4) and the number of Grade A, embryo (1.2 ± 1.3 vs. 1.1 ± 1.4, P value: 0.7). Conclusions: Simvastatin effectively improved hyperandrogenism signs and symptoms in patients with PCO, but this effect as a pretreatment regiment was not more expressive than metformin in ICSI cycle outcome. PMID:26756007

  2. Anorexia nervosa in congenital adrenal hyperplasia: long-term follow-up of 4 cases.

    PubMed

    Brand, M; Schoof, E; Partsch C-J; Peter, M; Hoepffner, W; Dörr, H G; Sippell, W G

    2000-01-01

    Studies which evaluate the psychosocial development and integration of adult female congenital adrenal hyperplasia (CAH) patients are rare but show that patients with the salt wasting form are significantly more virilized and more frequently single and childless. Major complaints are irregular menstruation, hirsutism, acne, obesity, deep voice, and cushingoid features. Surprisingly, a higher prevalence of psychosomatic disorders has not yet been described. Since anorexia nervosa (AN) has not yet been described in patients with CAH, we here report 4 cases of female CAH patients who developed AN during adolescence. Diagnosis of CAH was made between the age of 10 days and 3 years. Three patients suffer from the simple-virilizing form of CAH, one patient has a mild salt wasting CAH. Genital malformation varied from Prader stage II to IV. All 4 patients were compound heterozygotes for mutations/deletions of the CYP21B gene. Control of substitution therapy consisting of hydrocortisone and fluorocortisone was good. AN developed at ages 12, 13, 17, and 21 years (ICD 10 criteria for AN are BMI below 17.5 kg/m2, deliberate weight loss, body image disturbance, and primary or secondary amenorrhoea). Diagnosis of AN was established by psychiatrists and/or psychologists. All four patients showed an impressive and deliberate weight loss between 13 and 20 kg within 6 months, had primary or secondary amenorrhoea, and presented with BMI between 13 and 17.9 kg/m2. All patients received psychological treatment and recovered. However, one patient had a severe relapse of AN. Two patients are now married and one has a healthy son. These cases demonstrate that the diagnosis of CAH is compatible with the development of AN and illustrate the importance of providing treatment for CAH patients that encompasses not only medical but also psychological and social care. PMID:11026757

  3. Finasteride in Hidradenitis Suppurativa

    PubMed Central

    Do, Melissa Voutsalath

    2016-01-01

    Objective: Hidradenitis suppurativa is associated with obesity and metabolic syndrome, and a hormonal component has been implicated. Finasteride is an anti-androgenic agent used for benign prostatic hypertrophy, androgenic alopecia, and, in females, hirsutism. Finasteride is an inhibitor of type II5 alpha-reductase that reduces dihydrotestosterone levels and appears to alter end-organ sensitivity of the folliculopilosebaceous unit. The objective is to review the use of finasteride for hidradenitis suppurativa. Design: Review of the literature. Setting: Clinical treatment of patients with hidradenitis suppurativa. Measurement/participants: Five publications described the use for hidradenitis suppurativa. Four global case reports cited 13 individual patients, four male and nine female. Females included three adolescent patients and a child aged seven with precocious puberty. In the United States, finasteride in obese male adults was mentioned to be helpful. Results: Oral finasteride, as monotherapy or additional therapy was utilized for advanced hidradenitis suppurativa. The outcomes were largely favorable, with complete resolution in three patients. A latency period was evident in a majority. Limited, or continuous use for up to six years, was detailed. Response to reintroduction was successful. A benign safety profile with excellent tolerability was described. Teratogenicity of finasteride was addressed and contraception advocated in female patients. Sexual adverse effects were not ascertained. Conclusion: In hidradenitis suppurativa, finasteride could be considered in adults of both sexes as well as in select female children and adolescents, particularly those with concurrent metabolic and hormonal alterations present. Finasteride provides another highly effective, durable, relatively safe, and inexpensive option in the treatment of hidradenitis suppurativa. PMID:27386051

  4. Adolescent gynecology.

    PubMed

    Sanfilippo, Joseph S; Lara-Torre, Eduardo

    2009-04-01

    Given new developments in the field of adolescent reproductive health, this review focuses on highlighting new guidelines and practice patterns in evaluation and management of adolescent gynecologic problems. First, understanding the proper techniques for the initial examination is key to establishing a long-term relationship with this age group. Reservations about the first gynecologic examination are common, and the practitioner's goal is foremost to make the patient as comfortable as possible. Preventive health in this patient population is key, and practitioners should become comfortable with providing education about topics as diverse as sexuality, eating disorders, and dating violence. Furthermore, the frequency with which teenagers report sexual activity and the high unintended pregnancy rate in this age group makes counseling regarding effective contraception essential. Additionally, practitioners are encouraged to take the opportunity to discuss the availability of the human papillomavirus (HPV) vaccine with adolescents. In 2007, adolescents were designated as a special population, given the frequency with which they acquire and clear mild HPV-related cervical dysplasia. More conservative treatment in this population is generally favored. During their transition through puberty, disorders of menstruation become the most common complaint requiring the attention of the gynecologist. Most commonly, anovulation serves as the cause behind such abnormal bleeding. Polycystic ovarian syndrome can develop in early puberty and carry its consequences into adulthood. Infertility, diabetes, and hirsutism mark the most important components of the syndrome and require age-appropriate management. Finally, the consequences of endometriosis on the future fertility of adolescents have brought early intervention to light. Recognition and prompt treatment are advocated to prevent the future implications of this disease. PMID:19305342

  5. Collaboration rules.

    PubMed

    Evans, Philip; Wolf, Bob

    2005-01-01

    Corporate leaders seeking to boost growth, learning, and innovation may find the answer in a surprising place: the Linux open-source software community. Linux is developed by an essentially volunteer, self-organizing community of thousands of programmers. Most leaders would sell their grandmothers for workforces that collaborate as efficiently, frictionlessly, and creatively as the self-styled Linux hackers. But Linux is software, and software is hardly a model for mainstream business. The authors have, nonetheless, found surprising parallels between the anarchistic, caffeinated, hirsute world of Linux hackers and the disciplined, tea-sipping, clean-cut world of Toyota engineering. Specifically, Toyota and Linux operate by rules that blend the self-organizing advantages of markets with the low transaction costs of hierarchies. In place of markets' cash and contracts and hierarchies' authority are rules about how individuals and groups work together (with rigorous discipline); how they communicate (widely and with granularity); and how leaders guide them toward a common goal (through example). Those rules, augmented by simple communication technologies and a lack of legal barriers to sharing information, create rich common knowledge, the ability to organize teams modularly, extraordinary motivation, and high levels of trust, which radically lowers transaction costs. Low transaction costs, in turn, make it profitable for organizations to perform more and smaller transactions--and so increase the pace and flexibility typical of high-performance organizations. Once the system achieves critical mass, it feeds on itself. The larger the system, the more broadly shared the knowledge, language, and work style. The greater individuals' reputational capital, the louder the applause and the stronger the motivation. The success of Linux is evidence of the power of that virtuous circle. Toyota's success is evidence that it is also powerful in conventional companies. PMID

  6. Loss of NPC1 function in a patient with a co-inherited novel insulin receptor mutation does not grossly modify the severity of the associated insulin resistance.

    PubMed

    Kirk, J; Porter, K M; Parker, V; Barroso, I; O'Rahilly, S; Hendriksz, C; Semple, R K

    2010-12-01

    In Npc1 null mice, a model for Niemann Pick Disease Type C1, it has been reported that hepatocyte insulin receptor function is significantly impaired, consistent with growing evidence that membrane fluidity and microdomain structure have an important role in insulin signal transduction. However, whether insulin receptor function is also compromised in human Niemann Pick disease Type C1 is unclear. We now report a girl who developed progressive dementia, ataxia and opthalmoplegia from 9 years old, followed by severe acanthosis nigricans, hirsutism and acne at 11 years old. She was diagnosed with Niemann Pick Disease type C1 (OMIM#257220) based on positive filipin staining and reduced cholesterol-esterifying activity in dermal fibroblasts, and homozygosity for the p.Ile1061Thr NPC1 mutation. Further analysis revealed her also to be heterozygous for a novel trinucleotide deletion (c.3659 + 1_3659 + 3delGTG) at the end of exon 20 of INSR, encoding the insulin receptor, leading to deletion of Trp1193 in the intracellular tyrosine kinase domain. INSR mRNA and protein levels were normal in dermal fibroblasts, consistent with a primary signal transduction defect in the mutant receptor. Although the proband was significantly more insulin resistant than her father, who carried the INSR mutation but was only heterozygous for the NPC1 variant, their respective degrees of IR were very similar to those previously reported in a father-daughter pair with the closely related p.Trp1193Leu INSR mutation. This suggests that loss of NPC1 function, with attendant changes in membrane cholesterol composition, does not significantly modify the IR phenotype, even in the context of severely impaired INSR function. PMID:20521171

  7. Rooster feathering, androgenic alopecia, and hormone dependent tumor growth: What is in common?

    PubMed Central

    Mayer, Julie Ann; Chuong, Cheng-Ming; Widelitz, Randall

    2015-01-01

    Different epithelial organs form as a result of epithelial - mesenchymal interactions and share a common theme modulated by variations (Chuong edit. In Molecular Basis of Epithelial Appendage Morphogenesis, 1998). One of the major modulators is the sex hormone pathway that acts on the prototype signaling pathway to alter organ phenotypes. Here we focus on how the sex hormone pathway interfaces with epithelia morphogenesis related signaling pathways. We first survey these sex hormone regulated morphogenetic processes in various epithelial organs. Sexual dimorphism of hairs and feathers has implications in sexual selection. Diseases of these pathways result in androgenic alopecia, hirsutism, henny feathering, etc. The growth and development of mammary glands, prostate glands and external genitalia essential for reproductive function are also dependent on sex hormones. Diseases affecting these organs include congenital anomalies and hormone dependent type of breast and prostate cancers. To study the role of sex hormones in new growth in the context of system biology / pathology, an in vivo model in which organ formation starts from stem cells is essential. With recent developments (Yu et al., The morphogenesis of feathers. Nature 420:308–312, 2002), the growth of tail feathers in roosters and hens has become a testable model in which experimental manipulations are possible. We show exemplary data of differences in their growth rate, proliferative cell population and signaling molecule expression. Working hypotheses are proposed on how the sex hormone pathways may interact with growth pathways. It is now possible to test these hypotheses using the chicken model to learn fundamental mechanisms on how sex hormones affect organogenesis, epithelial organ cycling, and growth related tumorigenesis. PMID:15617560

  8. AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME--PART 1.

    PubMed

    Goodman, Neil F; Cobin, Rhoda H; Futterweit, Walter; Glueck, Jennifer S; Legro, Richard S; Carmina, Enrico

    2015-11-01

    Polycystic Ovary Syndrome (PCOS) is recognized as the most common endocrine disorder of reproductive-aged women around the world. This document, produced by the collaboration of the American Association of Clinical Endocrinologists (AACE) and the Androgen Excess and PCOS Society (AES) aims to highlight the most important clinical issues confronting physicians and their patients with PCOS. It is a summary of current best practices in 2015. PCOS has been defined using various criteria, including menstrual irregularity, hyperandrogenism, and polycystic ovary morphology (PCOM). General agreement exists among specialty society guidelines that the diagnosis of PCOS must be based on the presence of at least two of the following three criteria: chronic anovulation, hyperandrogenism (clinical or biological) and polycystic ovaries. There is need for careful clinical assessment of women's history, physical examination, and laboratory evaluation, emphasizing the accuracy and validity of the methodology used for both biochemical measurements and ovarian imaging. Free testosterone (T) levels are more sensitive than the measurement of total T for establishing the existence of androgen excess and should be ideally determined through equilibrium dialysis techniques. Value of measuring levels of androgens other than T in patients with PCOS is relatively low. New ultrasound machines allow diagnosis of PCOM in patients having at least 25 small follicles (2 to 9 mm) in the whole ovary. Ovarian size at 10 mL remains the threshold between normal and increased ovary size. Serum 17-hydroxyprogesterone and anti-Müllerian hormone are useful for determining a diagnosis of PCOS. Correct diagnosis of PCOS impacts on the likelihood of associated metabolic and cardiovascular risks and leads to appropriate intervention, depending upon the woman's age, reproductive status, and her own concerns. The management of women with PCOS should include reproductive function, as well as the care of hirsutism

  9. AB32. Sexuality after kidney transplantation

    PubMed Central

    Zhang, Xiaodong

    2014-01-01

    Introduction Kidney transplantation is the treatment of choice for persons with ESRD, and in general, KTx recipients have increased survival rates and enjoy overall better QOL than those on dialysis However, one thing of QOL that does not seem to improve post-transplant is sexuality. In fact, one study found that sexuality was the only aspect of QOL that did not improve after transplantation. Roughly, 50% of males and at least the same percent of females. Sexuality is important to QOL and is considered a basic human right and an important component of general health by WHO. Sexuality is a central aspect of being human throughout life. Encompassing Related causes, difficulties with sexuality and sexual functioning are most likely a result of both psychological and physiological factors, side effects of required medications, weight gain, hirsutism, and loss of sexually attractive following KTx, post-transplant complications and/or comorbid conditions. Hypertension and depression require medications. Almost all transplant recipients have or will eventually develop one or more comorbid conditions (diabetes) or experience side effects from treatments (pretransplant dialysis) or medications that can have a negative effect on their sexuality or sexual functioning Publications The first studies that examined sexuality among persons with ESRD were done in the 1970s. Retrospectively compare their sexual functioning levels. One of the largest of these early studies, conducted by Levy, was a nationwide survey of 519 persons belonging to the National Association of Patients on Hemodialysis and Transplantation. Three sexual functioning questions. There are 48% of men and 26% of women reported the development of or worsening of a sexual dysfunction as their ESRD progressed. And 35% of males and 25% of females reported a worsening of sexual function at the start of HD. 59% of all male HD patients and 43% of all male KTx recipients considered themselves to be partially or totally

  10. Systemic glucocorticoid therapy: risk factors for reported adverse events and beliefs about the drug. A cross-sectional online survey of 820 patients.

    PubMed

    Morin, Clément; Fardet, Laurence

    2015-12-01

    Despite systemic glucocorticoids are widely used, risk factors for most of their adverse events and patients' beliefs about the drug are poorly known. An online survey was conducted between February and July 2013 through the website www.cortisone-info.fr . Demographic (e.g., age, gender) and therapeutic (e.g., type of prescribed glucocorticoid, duration of prescription) data were collected. Patients were further asked to answer questions about glucocorticoid-induced adverse events and their beliefs about efficacy and safety of the drug. Risk factors for adverse events and efficacy/safety beliefs were assessed using multivariate logistic regression models. Eight hundred twenty questionnaires were analyzed (women 74.3 %; median age 49 [34-62] years, median equivalent prednisone dosage 20 [10-48] mg/day). The most frequently reported adverse events were insomnia (n = 477, 58.2 %), mood disturbances (n = 411, 50.1 %), hyperphagia (n = 402, 49.0 %), and lipodystrophy (n = 387, 47.2 %). The risk of some adverse events (e.g., weight gain, easy bruising) increased with the duration of exposure while other adverse events (e.g., insomnia, mood disorders, epigastric pain) were present since the first days of exposure. The risk of hirsutism, altered wound healing, mood disturbances, weight gain, lipodystrophy, hyperphagia, and epigastric pain decreased with age. Cutaneous disorders, morphological changes, and epigastric pain were more frequently reported by women. Interestingly, patients prescribed prednisolone reported less adverse events than those prescribed prednisone. No adverse event, demographical or prescribing characteristics were associated with beliefs about efficacy while factors associated with safety concerns were age (OR: 1.2 [1.1-1.3] per 10-year increase), osteoporosis (OR: 3.3 [1.4-7.9]), easy bruising (OR: 1.6 [1.1-2.3]), insomnia (OR: 1.7 [1.2-2.4]), and weight gain (OR: 1.6 [1.1-2.2]). These results may help clinicians to adapt information

  11. Regression of uterine leiomyomas after treatment with gestrinone, an antiestrogen, antiprogesterone.

    PubMed

    Coutinho, E M; Boulanger, G A; Gonçalves, M T

    1986-10-01

    treatment. Androgenic side effects such as seborrhea, acne, and hirsutism, whenever they occurred, were benign and reverted soon after discontinuing the medication. PMID:3532799

  12. Oral contraceptives as anti-androgenic treatment of acne.

    PubMed

    Lemay, André; Poulin, Yves

    2002-07-01

    Although acne is seldom associated with high serum levels of androgens, it has been shown that female acne patients have definite increases in ovarian and adrenal androgen levels when compared to appropriate controls. As shown in several pilot and in multiple open and comparative studies, oral contraceptives (OCs) are effective in causing a significant regression of mild to moderate acne. These results have been confirmed by multicentre randomized trials where low-dose OCs did not cause side effects different from those of the placebo-controlled group. The beneficial effect of OCs is related to a decrease in ovarian and adrenal androgen precursors; to an increase in sex hormone-binding globulin (SHBG), which limits free testosterone; and to a decrease in 3a-androstenediol glucuronide conjugate, the catabolite of dihydrotestosterone (DHT) formed in peripheral tissues. The estrogen-progestin combination containing cyproterone acetate (CPA) is particularly effective in treating acne, since this progestin also has a direct peripheral anti-androgenic action in blocking the androgen receptor. Only two open studies and one randomized study on small numbers of patients have reported some efficacy of spironolactone used alone or in combination with an OC in the treatment of acne. The new non-steroidal anti-androgens flutamide and finasteride are being evaluated for the treatment of hirsutism. Oral antibiotics are prescribed to patients with inflammatory lesions, where they are effective in decreasing the activity of microbes, the activity of microbial enzymes, and leukocyte chemotaxis. Concomitant intake of an OC and an antibiotic usually prescribed for acne does not impair the contraceptive efficacy of the OC. A second effective contraceptive method should be used whenever there would be decreased absorption or efficacy of the OC (digestive problems, breakthrough bleeding), lack of compliance and use of a type or dose of antibiotic different from that usually prescribed

  13. Obesity with irregular menstrual cycle in young girls.

    PubMed

    Mustaqeem, M; Sadullah, S; Waqar, W; Farooq, M Z; Khan, A; Fraz, T R

    2015-01-01

    Obesity is one of the leading causes of morbidity and mortality worldwide. Obese women are at increased risk of developing Type 2 Diabetes, cardiovascular diseases, hyperlipidemia, rectal carcinoma and gynecological problems including sub fertility, menstrual dysfunction and polycystic ovarian disease. The aim of this study was to assess relationship of obesity with menstrual irregularity in young girls that can help to create awareness among young girls about obesity and how it can affect fertility. It was a case controlled cross sectional study comprising of 220 participants from different colleges and universities of Karachi and from outpatients department of private clinic and Civil Hospital Karachi. A questionnaire was designed to assess the relationship of obesity with irregular menstrual cycle. Questionnaires were filled by co-authors after taking verbal consent. Data was collected from March 2013 to December 2013 and entered and analyzed on SPSS 16.0. Out of 220 participants obese and overweight were 67(30.4%) and 49(22.2%) respectively. Significant association was found between body composition and menstrual cycle irregularity as menstrual irregularity was present in only 9.5% when the BMI was normal and 14.09% and 24% girls in the overweight and obese categories respectively. Waist to hip ratio was found increased in 61.36% of girls. Sixty four point forty four percent (64.44%) of the girls with increased waist to hip ratio reported menstrual irregularity which makes 39.55% of the total sample population. Dysmenorrhea was reported by 63.6% of participants and family history was positive in 77.3%. Hirsutism was reported in 36.7% and 49.2%, acne in 34.6% and 43.2%, weight gain tendency in 85.7% and 98.5%, types 2 diabetes in 0% and 4.4% and hypertension in 8.16% and 31.3% of overweight and obese participants respectively. This study shows considerable association between overall and central obesity with menstrual cycle irregularity. This study provides the

  14. Endocrine abnormalities in ring chromosome 11: a case report and review of the literature

    PubMed Central

    Lange, Renata; Von Linsingen, Caoê; Mata, Fernanda; Moraes, Aline Barbosa; Arruda, Mariana

    2015-01-01

    Summary Ring chromosomes (RCs) are uncommon cytogenetic findings, and RC11 has only been described in 19 cases in the literature. Endocrine abnormalities associated with RC11 were reported for two of these cases. The clinical features of RC11 can result from an alteration in the structure of the genetic material, ring instability, mosaicism, and various extents of genetic material loss. We herein describe a case of RC11 with clinical features of 11q-syndrome and endocrine abnormalities that have not yet been reported. A 20-year-old female patient had facial dysmorphism, short stature, psychomotor developmental delays, a ventricular septal defect, and thrombocytopenia. Karyotyping demonstrated RC11 (46,XX,r(11)(p15q25)). This patient presented with clinical features that may be related to Jacobsen syndrome, which is caused by partial deletion of the long arm of chromosome 11. Regarding endocrine abnormalities, our patient presented with precocious puberty followed by severe hirsutism, androgenic alopecia, clitoromegaly, and amenorrhea, which were associated with overweight, type 2 diabetes mellitus (T2DM), and hyperinsulinemia; therefore, this case meets the diagnostic criteria for polycystic ovary syndrome. Endocrine abnormalities are rare in patients with RC11, and the association of RC11 with precocious puberty, severe clinical hyperandrogenism, insulin resistance, and T2DM has not been reported previously. We speculate that gene(s) located on chromosome 11 might be involved in the pathogenesis of these conditions. Despite the rarity of RCs, studies to correlate the genes located on the chromosomes with the phenotypes observed could lead to major advances in the understanding and treatment of more prevalent diseases. Learning points We hypothesize that the endocrine features of precocious puberty, severe clinical hyperandrogenism, insulin resistance, and T2DM might be associated with 11q-syndrome.A karyotype study should be performed in patients with short

  15. Fracture Risk Is Decreased in Women With Polycystic Ovary Syndrome: A Register-Based and Population-Based Cohort Study.

    PubMed

    Rubin, Katrine Hass; Glintborg, Dorte; Nybo, Mads; Andersen, Marianne; Abrahamsen, Bo

    2016-04-01

    Hyperandrogenism, obesity, and hyperinsulinemia may protect against osteoporosis, whereas amenorrhea, increased cortisol, and low growth hormone may be associated with higher fracture risk in polycystic ovary syndrome (PCOS). The objective of this study was to investigate fracture risk in PCOS. In the PCOS Denmark study, women with PCOS and/or hirsutism were identified in the Danish National Patient Register (1995-2012). Each patient was assigned three age-matched controls on the index date of PCOS diagnosis. Individuals with a previous endocrine diagnosis were excluded. Within PCOS Denmark, we embedded a well-characterized subcohort of patients, PCOS OUH, diagnosed with PCOS at Odense University Hospital (n = 1217). We identified incident fractures by International Classification of Diseases, 10th Revision (ICD-10) codes and used conditional Cox regression analyses to compare fracture risk. In the PCOS Denmark study, there were 19,199 women with PCOS and 57,483 controls were included, mean age 30.6 years (range, 12-60 years). Fracture rates were decreased in PCOS Denmark (10.3/1000 patient years) versus controls (13.6/1000 patient years). The adjusted ORs were 0.76 (95% CI, 0.71 to 0.80) for all fractures, 0.82 (95% CI, 0.74 to 0.92) for major osteoporotic fractures, and 0.57 (95% CI, 0.47 to 0.70) for fractures of head and face. The risk reduction was more pronounced below the age of 30 years at diagnosis. Women with PCOS had significant more hospital contacts due to strains and sprains. In the PCOS OUH subcohort, the risk reduction of fractures did not differ between PCOS women with elevated versus normal testosterone levels and the risk reduction was nominally smaller in overweight versus normal weight PCOS women. Women with PCOS had reduced risk of fractures, in particular of the appendicular skeleton. The risk reduction was greater in women with younger age at diagnosis suggesting that the skeletal effects of PCOS may be greater in women who have not yet

  16. Rhodium-catalyzed [5 + 2 + 1] cycloaddition of ene-vinylcyclopropanes and CO: reaction design, development, application in natural product synthesis, and inspiration for developing new reactions for synthesis of eight-membered carbocycles.

    PubMed

    Wang, Yi; Yu, Zhi-Xiang

    2015-08-18

    synthesized using the [5 + 2 + 1] cycloaddition as the key step. In the latter case, excellent asymmetric induction was obtained using a chiral substrate. The efficiency of the [5 + 2 + 1] reaction was further demonstrated by the synthesis of four sesquiterpene natural products, (±)-pentalenene, (+)-hirsutene, (±)-1-desoxyhypnophilin, and (±)-hirsutic acid C, containing linear or branched triquinane skeletons utilizing the tandem or stepwise [5 + 2 + 1] cycloaddition/aldol reaction strategy. With the success of [5 + 2 + 1] cycloaddition in natural product synthesis, application of the [7 + 1] and benzo/[7 + 1] cycloadditions in target- and function-oriented syntheses can be envisioned. PMID:26227886

  17. Ultrastructure of Oryza glumaepatula, a wild rice species endemic of tropical America.

    PubMed

    Sánchez, Ethel; Espinoza, Ana M

    2005-01-01

    Orv'za gluniaepatula is a perennial wild rice species, endemic to tropical America, previously known as the Latin American race of Orrza rufipogon. In Costa Rica, it is found in the northern region of the country, mainly in the wetland of the Medio Queso River, Los Chiles, Alajuela. It is diploid, of AA type genome and because of its genetic relatedness to cultivated rice it is included in the O. saliva complex. We describe the ultrastructure of leaf blade, spikelet, ligule and auricles. Special emphasis is given to those traits of major taxonomic value for O. glumaepatula and to those characters that distinguish this species from O. rufipogon and O. sativa. O. glumaepatula has a leaf blade covered with tombstone-shaped, oblong and spheroid epicuticular wax papillae. It has diamond-shaped stomata surrounded by spherical papillae, rows of zipper-like silica cells, bulky prickle trichomes of ca. 40 microm in length and small hirsute trichomes of ca. 32 tpm in length. The central vein is covered with large, globular papillae of ca. 146 microm in length, a characteristic that distinguishes this species from O. rufipogon and O. sativa. The border of the leaf blade exhibits a row of even-sized bulky prickle trichomes of ca. 42.5 microm in length. Auricles have attenuated trichomes of ca. 5.5 mm in length on the edges and small bicellular trichomes of 120 microm in length on the surface. The ligule has a large number of short attenuated trichomes on its surface of 100 microm in length. These latter two traits have important taxonomic value since they were found in O. glumaepatula but not found in O. sativa or in O. rufipogon. The spikelet has the typical morphology of the Oryza genus. Fertile lemmas have abundant spines, a trait shared with O. rufipogon but not with O. sativa. The sterile lemmas are wing-shaped with serrated borders, a characteristic that distinguishes this species from O. rufipogon and O. sativa. All the ultrastructure characters observed in O

  18. An update of congenital adrenal hyperplasia.

    PubMed

    New, Maria I

    2004-12-01

    Congenital adrenal hyperplasia (CAH) is a family of autosomal recessive disorders caused by mutations that encode for enzymes involved in one of the various steps of adrenal steroid synthesis. These defects result in the absence or the decreased synthesis of cortisol from its cholesterol precursor. The anterior pituitary secretes excess adrenocorticotrophic hormone (ACTH) via feedback regulation by cortisol, which results in overstimulation of the adrenals and causes hyperplasia. Symptoms due to CAH can vary from mild to severe depending on the degree of ensymatic defect. In the classical form of CAH, there is a severe enzymatic defect owing to mutations in the CYP21 gene. Classically affected female fetuses undergo virilization of the genitalia prenatally and present with genital ambiguity at birth; however, prenatal treatment of CAH with dexamethasone to prevent ambiguity has been successfully utilized for over a decade. In the less severe, late-onset form of CAH, prenatal virilization does not occur. The milder enzyme deficiency was termed nonclassical 21-hydroxylase deficiency (NC21OHD) in 1979 and was later found to be the most common autosomal recessive disorder in humans. Disease frequency of NC21OHD varies between ethnic groups with the highest ethnic-specific disease frequency in Ashkenazi Jews at 1/27. NC21OHD is diagnosed by serum elevations of 17-OHP that plot on a nomogram between the range for unaffected individuals and levels observed for classical CAH and is typically confirmed with molecular genetic analysis. Similar to classical CAH, nonclassical 21-hydroxylase deficiency may cause premature development of pubic hair, advanced bone age, accelerated linear growth velocity and diminished final height in both males and females. Severe cystic acne has also been attributed to nonclassical CAH. Women may present with symptoms of androgen excess, including hirsutism, temporal baldness, and infertility. Menarche in females may be normal or delayed and

  19. [Hyperprolactinemia in mentally ill patients].

    PubMed

    Carvalho, Manuel Maria de; Góis, Carlos

    2011-01-01

    Hyperprolactinemia is a common, but neglected, adverse effect of conventional antipschycotics and of some of the atypical antipshycotics. It occurs in almost 42% of men and in 75% of women with schizophrenia who are treated with prolactin-raising antipshycotics, even though it has aroused minimal interest within the scientific community when compared with extra-pyramidal effects. Conventional antipsychotics and some of the atypical antipsychotics, such as risperidone, paliperidone, amisulpride and zotepine, are frequently associated with the raise in prolactin plasma levels. Because of this increment in prolactin secretion, they are usually known as prolactin-raising antipshycotics. On the contrary, some of the atypical antipsychotics, such as clozapine, quetiapine, olanzapine, aripiprazole and ziprazidone, have a minimal or no significant effect in prolactin levels, being known as prolactin-sparing antipsychotics. Hyperprolactinemia clinical symptoms include gynaecomastia, galactorrhoea, menstrual irregularities, infertility, sexual dysfunction, acne and hirsutism. Some of these symptoms are due to the prolactin direct action in body tissues, while a couple of them can be due to a hypothalamic-pituitary-gonadal axis dysregulation mediated by the elevation of prolactin. Some studies seem to point the evidence of an association between hyperprolactinemia and long-term consequences, such as bone mineral density decrement and breast cancer. However, these results must be confirmed through further studies. Antipsychotic treatment is the most common cause of hyperprolactinemia in psychiatric patients. However, the evidence of a prolactin increased plasma level demands the differential diagnosis with other pathologies, such as hyphotalamic and pituitary neoplasic disease. The management of a patient with antipsychotic-induced hyperprolactinemia must be adapted to each patient and it may include a reduction in the dosage of the offending antipsychotic, switching to a

  20. Antiandrogenic Therapy with Ciproterone Acetate in Female Patients Who Suffer from Both Androgenetic Alopecia and Acne Vulgaris

    PubMed Central

    CONEAC, ANDREI; MURESAN, ADRIANA; ORASAN, MEDA SANDRA

    2014-01-01

    Background. Androgenetic Alopecia in Women (AGA) occurs due to an underlying susceptibility of hair follicles to androgenic miniaturization, caused by androgens. Clinically, AGA is characterized by progressive hair loss, with a marked hair thinning in the fronto-parietal area so that the scalp can be easily seen. Acne vulgaris is androgen-dependent and often affects the skin that has an increased number of oil glands: face, back and chest. Although the sebaceous glands are present on the scalp too, it is very rare to get acne at this site, as the hair acts as a wig and allows the sebum to drain and does not block the pores. Both AGA and Acne Vulgaris are signs of hyperandrogenism. Cyproterone acetate/ethinyl estradiol (2mg/0.035mg) products are authorized for the treatment of androgenetic symptoms in women, such as acne, seborrhea, mild forms of hirsutism and androgenetic alopecia. Our study had a double purpose: - To evaluate the result of the study regimen Melleva 35 (one pill per day, for 3 consecutive months) in patients with moderate to severe acne, suffering also from Androgenetic Alopecia;- To establish the efficacy of the drug on acne and alopecia improvement, both from the doctor’s and patient’s point of view. Patients and methods. After being informed of the aims and procedures of the study, participants provided a written informed consent. A number of 35 female subjects with moderate to severe acne vulgaris remained in the study. The subjects had also been diagnosed as suffering from AGA, on the basis of clinical criteria, including the pattern of hair loss and trichoscopy assessment. Results 83% of study subjects reported that their hair did not continue to fall after 3 months of antiandrogen therapy. The females were evaluated using trichoscopy and the doctor noticed hair regrowth in 77% of the cases. Regarding the improvement of acne lesions after the treatment, 40% of study subjects recorded good improvement and 26% recorded excellent results

  1. Comparison of Drospirenone- with Cyproterone Acetate-Containing Oral Contraceptives, Combined with Metformin and Lifestyle Modifications in Women with Polycystic Ovary Syndrome and Metabolic Disorders: A Prospective Randomized Control Trial

    PubMed Central

    Wang, Qiu-Yi; Song, Yong; Huang, Wei; Xiao, Li; Wang, Qiu-Shi; Feng, Gui-Mei

    2016-01-01

    Background: While combined oral contraceptives (COCs) are commonly used to treat polycystic ovary syndrome (PCOS), comparative data regarding metabolic effects of different progestogens on this patient population are missing. This study aimed to compare the different effects of drospirenone (DRP)-containing COCs with cyproterone acetate (CPA)-containing COCs, combined with metformin and lifestyle modifications in women with PCOS and metabolic disorders. Methods: Ninety-nine women with PCOS and a metabolic disorder between January 2011 and January 2013 were enrolled into this prospective randomized clinical trial. Participants were randomized into two groups such as DRP-containing COCs, and CPA-containing COCs. Participants took COCs cyclically for 6 months, combined with metformin administration (1.5 g/d) and lifestyle modifications (diet and exercise). Clinical measures and biochemical and hormone profiles were compared. Comparisons for continuous variables were evaluated with paired and unpaired Student's t-tests. The Wilcoxon signed rank test was used when the data were not normally distributed. Analysis of covariance was used to control for age, body mass index (BMI), and baseline data of each analyzed parameter when compared between the two groups. Results: A total of 68 patients have completed the study. The combination regimen of COCs, metformin, and lifestyle modifications in these patients resulted in a significant decrease in BMI, acne, and hirsutism scores when compared to baseline levels in both groups (P < 0.05). Blood pressure (BP) was significantly different in the CPA group when compared to baseline (75.14 ± 6.77 mmHg vs. 80.70 ± 5.60 mmHg, P < 0.01), and after 6 months of treatment, only the change in systolic BP was significantly different between the two groups (4.00 [–6.00, 13.00] mmHg vs. –3.50 [–13.00, 9.00] mmHg, P = 0.009). Fasting glucose, fasting insulin, and homeostasis model assessment-insulin resistance decreased significantly

  2. Insulin resistance and clinical aspects of non-alcoholic steatohepatitis (NASH).

    PubMed

    Agarwal, Naresh; Sharma, Barjesh Chander

    2005-10-01

    Non-alcoholic steatohepatitis (NASH) is one of the most common liver disorders. This is highly prevalent in obese and diabetic subjects. Persons with central obesity are at particular risk. Other clinical predictors are age more than 40-50 years and hyperlipidemias, but none of these factors is invariable for causation of NASH. Other reported associations are, celiac disease, Wilson's Disease and few other metabolic diseases. Drugs, particularly amiodarone, tamoxifen, nucleoside analogues and methotrxate have also been linked to NASH. The disease is evenly distributed in both sexes but advanced disease is more common in women. Ethnic variation exists and African Americans are less affected than Hispanic Americans. Specific clinical features of NASH are infrequent. Patients usually come to clinical attention by elevated liver enzymes found on routine evaluation but on history, about two third of patients will admit to have mild fatigue and about half will report right upper quadrant pain. Rarely, patient may present with a complication of cirrhosis. Physical examination may reveal hepatomegaly and splenomegaly. Research in last few years has stressed that development of steatosis, stetohepatitis, fibrosis with subsequent cirrhosis are most probably the result of insulin resistance. Therefore, clinical features may reflect existence of insulin resistance. Obesity, particularly central obesity is most important of these. Patients may have sleep apnea syndrome. Hypertension and manifestations of diabetes mellitus like polyuria, polydypsia, and neurological deficits may occur. Patients may have varying combination of obesity, diabetes, hyperlipidemia, hypertension and impaired fibrinolysis (syndrome X). Children with insulin resistance may show acanthosis nigricance. Patients with polycystic ovary syndrome, which consists of insulin resistance, diabetes, obesity, hirsutism, oligo or polymenorrha and hyperlipidemia may have NASH. Other rare manifestations of insulin

  3. Polycystic ovarian morphology with regular ovulatory cycles: insights into the pathophysiology of polycystic ovarian syndrome.

    PubMed

    Adams, Judith M; Taylor, Ann E; Crowley, William F; Hall, Janet E

    2004-09-01

    To determine the relevance of polycystic ovarian morphology (PCOM) to the pathophysiology of polycystic ovarian syndrome (PCOS), biochemical features associated with PCOS were examined in 68 women with an established history of regular ovulatory cycles and no clinical evidence of hyperandrogenism. Ovarian morphology was objectively assessed by pelvic ultrasound. LH, FSH, estradiol (E(2)), testosterone (T), androstenedione (Delta(4)A), SHBG, and dehydroepiandrosterone sulfate (DHEAS) were measured at baseline in the early follicular phase (EFP) in all subjects. LH, FSH, E(2), and progesterone (P(4)) were then measured daily for a complete menstrual cycle in 16 women with normal ovarian morphology and in 26 women with PCOM. T, Delta(4)A, SHBG, and DHEAS levels were measured in pools of three daily samples in each of the EFP, midcycle, and midluteal phases. An additional 26 normal women (13 with normal ovarian morphology and 13 with PCOM) were studied in the EFP to assess pulsatile LH secretion, insulin and glucose levels, and the ovarian response to human chorionic gonadotropin. At baseline, there were no differences in body mass index or hirsutism scores between women with PCOM and normal ovaries. In daily samples across the menstrual cycle LH, FSH, E(2), and P(4) did not differ between women with PCOM and those with normal ovaries, and there was no difference in LH pulse amplitude or frequency in the EFP frequent sampling studies. In women with PCOM, T (P < 0.01), free T (P < 0.005), and DHEAS (P < 0.01) levels were higher at baseline in the EFP, and SHBG was lower (P < 0.05). Differences in Delta(4)A did not reach significance (P = 0.14). T, free T, Delta(4)A, and DHEAS were also increased in PCOM across the menstrual cycle (P < 0.05). In addition, 17-hydroxyprogesterone (P < 0.02), Delta(4)A (P < 0.01), and T (P < 0.01) responses to human chorionic gonadotropin were greater in women with PCOM. Fasting glucose was not different between the two groups, but fasting

  4. AMERICAN ASSOCIATION OF CLINICAL ENDOCRINOLOGISTS, AMERICAN COLLEGE OF ENDOCRINOLOGY, AND ANDROGEN EXCESS AND PCOS SOCIETY DISEASE STATE CLINICAL REVIEW: GUIDE TO THE BEST PRACTICES IN THE EVALUATION AND TREATMENT OF POLYCYSTIC OVARY SYNDROME - PART 2.

    PubMed

    Goodman, Neil F; Cobin, Rhoda H; Futterweit, Walter; Glueck, Jennifer S; Legro, Richard S; Carmina, Enrico

    2015-12-01

    contraceptives (OCPs) but have not shown improvement in menses, spontaneous ovulation, hirsutism, or acne. Statins reduce total and LDL cholesterol but have no effect on HDL, C-reactive protein, fasting insulin, or homeostasis model assessment of insulin resistance in PCOS women, in contrast to the general population. There have been no long-term studies of statins on clinical cardiac outcomes in women with PCOS. Coronary calcification is more prevalent and more severe in PCOS than in controls. In women under 60 years of age undergoing coronary angiography, the presence of polycystic ovaries on sonography has been associated with more arterial segments with >50% stenosis, but the relationship between PCOS and actual cardiovascular events remains unclear. Therapies for PCOS are varied in their effects and targets and include both nonpharmacologic as well as pharmacologic approaches. Weight loss is the primary therapy in PCOS--reduction in weight of as little as 5% can restore regular menses and improve response to ovulation- inducing and fertility medications. Metformin in premenopausal PCOS women has been associated with a reduction in features of MetS. Clamp studies using ethinyl estradiol/drosperinone combination failed to reveal evidence of an increase in either peripheral or hepatic insulin resistance. Subjects with PCOS have a 1.5-times higher baseline risk of venous thromboembolic disease and a 3.7-fold greater effect with OCP use compared with non-PCOS subjects. There is currently no genetic test to screen for or diagnose PCOS, and there is no test to assist in the choice of treatment strategies. Persistent bleeding should always be investigated for pregnancy and/or uterine pathology--including transvaginal ultrasound exam and endometrial biopsy--in women with PCOS. PCOS women can have difficulty conceiving. Those who become pregnant are at risk for gestational diabetes (which should be evaluated and managed appropriately) and the microvascular complications of diabetes

  5. Transdermal testosterone administration in women with acquired immunodeficiency syndrome wasting: a pilot study.

    PubMed

    Miller, K; Corcoran, C; Armstrong, C; Caramelli, K; Anderson, E; Cotton, D; Basgoz, N; Hirschhorn, L; Tuomala, R; Schoenfeld, D; Daugherty, C; Mazer, N; Grinspoon, S

    1998-08-01

    group were included in the intent to treat analysis. Serum free testosterone levels increased significantly from 1.2 +/- 0.2 to 5.9 +/- 0.8 pg/mL (AP) and from 1.9 +/- 0.4 to 12.4 +/- 1.6 pg/mL (AA) in response to testosterone administration (P < 0.0001 for comparison of AA vs. PP and AP vs. PP; normal range, 1.3-6.8 pg/mL). Testosterone administration was generally well tolerated locally and systemically, with no adverse trends in hirsutism scores, lipid profiles, or liver function tests. Weight increased significantly in the AP group (1.9 +/- 0.7 kg) vs. the PP group (0.6 +/- 0.8 kg; P = 0.043), but did not increase significantly in the AA group (0.9 +/- 0.4 kg; P = 0.263 vs. PP, by mixed effects model assessing the interaction of time and treatment on all available data, one-tailed test). Improved social functioning (P = 0.024, by one-tailed test) and a trend toward improved pain score (P = 0.059) were observed in the AP vs. the PP-treated patients (RAND 36-Item Health Survey questionnaire). Five of six previously amenorrheic patients in the AP group had spontaneous resumption of menses compared to only one of four amenorrheic patients in the AA group (P = 0.045 for comparison of actual number of periods during the study). This study is the first investigation of testosterone administration in women with AIDS wasting. We demonstrate a novel method to augment testosterone levels in such patients that is safe and well tolerated during short term administration. At the lower of the two doses administered in this study, testosterone therapy was associated with positive trends in weight gain and quality of life. Higher, more supraphysiological, dosing was not associated with positive trends in weight or overall well-being. These data suggest that testosterone administration may improve the status of women with AIDS wasting. Further studies are needed to assess the effects of testosterone on weight in HIV-infected women and to define the optimal therapeutic window for test