Polycystic Ovary Syndrome and Incidental Diagnosis of Mosaic Turner Syndrome.

BACKGROUND: Polycystic ovary syndrome (PCOS) is a common condition in women of reproductive age. Mosaic Turner syndrome (TS) is a genetic disorder with significant phenotypic variability. The occurrence of PCOS in women with mosaic TS has been infrequently studied. CASE: A 30-year-old nulligravid woman presented with oligomenorrhea, hyperandrogenism, infertility, and ultrasound polycystic ovary morphology. She was diagnosed with PCOS and conceived following ovulation induction. After 2 inconclusive non-invasive prenatal screening results, she was referred to medical genetics. A maternal karyotype resulted in a diagnosis of 45,X/46,XX mosaic TS. She delivered a healthy 46,XY infant at term. CONCLUSION: PCOS can affect women with mosaic TS. Further studies are needed to better characterize the reproductive profile of women with mosaic TS, including the presentation of concurrent PCOS.

[RISK FACTORS AND CLINICAL PECULIARITIES OF SECONDARY OLIGOMENORRHEA IN ADOLESCENT GIRLS].

Risk factors related to secondary oligomenorrhea (SOM) are the presence of chronic extragenital pathology, abrupt changes in body mass during a short period of time, a burdened perinatal history at the onset of SOM after a year of regular menstruations. Adolescent girls with SOM differ from their healthy peers by a frequent occurrence of hirsutism, obesity and body mass deficit, uterine hypoplasia.

Polycystic ovary syndrome v.2023: Simplified diagnostic criteria for an East Asian phenotype.

Introduction: Two decades after the Rotterdam 2003 consensus workshop, there have been considerable advances in elucidating the pathophysiology and epidemiology of polycystic ovary syndrome (PCOS). This has prompted the re-examination of the features that characterise this common condition. Current definitions have led to great heterogeneity in the prevalence of PCOS and have contributed to inconsistent treatment protocols and assessment of therapeutic outcomes. Diagnosis is further complicated by the lack of universal agreement on threshold cut-offs for ovarian dysfunction and ethnic differences in hirsutism; both of which are key features in the definitions that are commonly used currently. These challenges often result in dissatisfaction with medical care among PCOS patients and their physicians. Method: Our factor analysis mathematically identified anti-Mullerian hormone (AMH), associated polycystic ovarian morphology (PCOM) and serum testosterone as the only significant cluster associated with menstrual cycle length variability. Results and Conclusion: As such, we propose a simplified criteria wherein the presence of at least 2 of the 3 features below would be sufficient to define PCOS: (1) chronic oligo-ovulation or anovulation as indicated by oligomenorrhea (cycle lengths >35 days) or amenorrhea; (2) PCOM: raised AMH ≥37.0 pmol/L instead of transvaginal ultrasound assessment of ovaries; and (3) Androgen excess, or raised serum androgens above the laboratory reference for women. Further studies are required to examine whether the proposed criteria would reduce diagnostic confusion and improve care and outcomes, especially among patients of East Asian ethnicities.

Sharma's parachute sign a new laparoscopic sign in abdomino pelvic tuberculosis.

AIMS: To demonstrate a new laparoscopic sign "Sharma's Parachute sign" in abdominopelvic tuberculosis in women with infertility. METHODS: A total of 104 women who were diagnosed to have abdominopelvic tuberculosis, on endometrial sampling or on laparoscopy were enrolled in this ongoing study on tuberculosis in infertility. A new laparoscopic "Sharma's parachute sign" was looked for in these cases on laparoscopy. RESULTS: The mean age, pairty and duration of infertility was 27.6 years, 0.58 and 4.1 years respectively. Menstrual dysfuction were common especially hypomenorrhoea (34.61%), oligomenorrhoea (36.53%) along with constitutional symptoms and abdomino pelvic pain or lump. Diagnosis of abdominopelvic tuberculosis was made by identification of acid fast bacilli (AFB) on microscopy or culture of endometrial aspirate or peritoneal biopsy or positive gene Xpert or positive polymerase chain reaction (PCR) or histopathological demonstration of epithelioid granuloma on endometrial or peritoneal biopsy, various laparoscopic findings on pelvic and abdominal organs were tubercles and shaggy areas (white deposits, caseous nodules encysted ascites, abdominal and pelvic adhesions, tubal findings (hydrosalpinx, pyosalpinx, beaded or calcified tubes). A new "Sharma's parachute sign"in which ascending colon was totally adherent to anterior abdominal wall with its mesocolon looking like an open parachute with small caseous nodule was seen in 11 (10.5%) cases. CONCLUSION: Diagnostic laparoscopy is an important investigation for abdominopelvic tuberculosis showing various adhesions including new parachute sign.

Anti-Müllerian Hormone Levels in Adolescence in Relation to Long-term Follow-up for Presence of Polycystic Ovary Syndrome.

CONTEXT: Anti-Müllerian hormone (AMH) measured in adolescence as biomarker for prediction of adult polycystic ovary syndrome (PCOS) is doubtful but not substantiated. OBJECTIVE: To investigate whether serum AMH levels and other PCOS-associated features in adolescence can predict the presence of PCOS in adulthood. DESIGN AND SETTING: A long-term follow-up study based on a unique adolescent study on menstrual irregularities performed between 1990 and 1997. PARTICIPANTS AND INTERVENTIONS: AMH was assayed in 271 adolescent girls. Data on PCOS features were combined with AMH levels. In 160 of the 271 (59%) participants, we collected information in adulthood about their menstrual cycle pattern and presence of PCOS (features) by questionnaire 2 decades after the initial study. RESULTS: AMH was higher in adolescent girls with oligomenorrhea compared with girls with regular cycles, median (interquartile range): 4.6 (3.1-7.5) versus 2.6 (1.7-3.8) µg/L (P < 0.001). Women with PCOS in adulthood had a higher median adolescent AMH of 6.0 compared with 2.5 µg/L in the non-PCOS group (P < 0.001). AMH at adolescence showed an area under the receiver operating characteristic curve for PCOS in adulthood of 0.78. In adolescent girls with oligomenorrhea the proportion developing PCOS in adulthood was 22.5% (95% CI, 12.4-37.4) against 5.1% (95% CI, 2.1-12.0) in girls with a regular cycle (P = 0.005). Given adolescent oligomenorrhea, adding high AMH as factor to predict adult PCOS or adult oligomenorrhea was of no value. CONCLUSIONS: Adolescent AMH either alone or adjuvant to adolescent oligomenorrhea does not contribute as prognostic marker for PCOS in adulthood. Therefore, we do not recommend routine its use in clinical practice.

The diagnosis of polycystic ovary syndrome in adolescents.

In women, the definition of polycystic ovary syndrome (PCOS) has become broad and includes several possible phenotypes. Because several features of PCOS may be in evolution in adolescents, we suggest that only firm criteria should be used to make a diagnosis of PCOS during adolescence. Hyperandrogenism, oligomenorrhea, and ovarian morphology change during adolescence and are discussed individually. Adolescents with incomplete criteria for a firm diagnosis of PCOS should be followed up carefully and may be diagnosed at a later time.

Common menstrual problems in adolescence.

Many girls tell their general practitioners and paediatricians about problems with their periods. This article focuses on a practical approach to managing menorrhagia, dysmenorrhoea, oligomenorrhoea and premenstrual syndrome (PMS) and reviews the literature on this topic.

Discriminating hypothalamic oligomenorrhea/amenorrhea from hyperandrogenic oligomenorrhea/amenorrhea in exercising women.

The mechanism underlying oligo/amenorrhea in exercising women is often presumed as hypothalamic inhibition secondary to energy deficiency; however, hyperandrogenism may provide an alternative mechanism in some exercising women. Our purpose was to compare reproductive, metabolic, and androgen profiles of exercising women with eumenorrheic, ovulatory menstrual cycles (n = 91), oligo/amenorrhea without evidence of hyperandrogenism (Oligo/Amen; n = 83), and oligo/amenorrhea with evidence of hyperandrogenism (Oligo/Amen-HA; n = 17), and determine the prevalence of oligo/amenorrhea with evidence of hyperandrogenism in exercising women. Self-reported menstrual history and quantification of daily estrogen and progesterone urinary metabolites determined reproductive status. Resting energy expenditure, body composition, and metabolic hormone concentrations determined metabolic status. Serum androgens and calculated free androgen index (FAI) determined androgen status. Groups were similar in age (22.4 ± 0.3 years), height (165.1 ± 0.5 cm), resting energy expenditure (1198.4 ± 12.0 kcal/day), and total triiodothyronine (85.0 ± 1.5 ng/dL) concentration. Oligo/Amen-HA had greater weight (60.0 ± 1.6, 56.1 ± 0.7 kg), body mass index (22.3 ± 0.4, 20.6 ± 0.2 kg/m2), percentage body fat (27.3% ± 1.4%, 24.4% ± 0.6%), fat mass (16.2 ± 1.0, 13.8 ± 0.4 kg), insulin (5.8 ± 0.7, 4.2 ± 0.3 µIU/mL), leptin (12.2 ± 2.3, 6.6 ± 0.7 ng/mL), FAI (6.1 ± 0.3, 1.7 ± 0.1), and luteinizing hormone/follicle-stimulating hormone (1.9 ± 0.3, 1.3 ± 0.2) compared with Oligo/Amen, respectively. In our sample, 17% of those with oligo/amenorrhea had concurrent hyperandrogenism. This study supports that oligo/amenorrhea in some exercising women is related to hyperandrogenism. Novelty Caution must be utilized when discriminating hypothalamic oligo/amenorrhea from hyperandrogenic oligo/amenorrhea. In our sample, 17% of those with presumed hypothalamic oligo/amenorrhea had concurrent hyperandrogenism. Exercise and/or mild energy deficiency may be protective against developing severe hyperandrogenic symptoms.

Functional and endocrine-metabolic oligomenorrhea: proposal of a new diagnostic assessment tool for differential diagnosis in adolescence.

Background To develop a diagnostic assessment tool, using clinical, biochemical and sonographic markers, to help clinicians in the differential diagnosis of functional oligomenorrhea (FO) and endocrine-metabolic oligomenorrhea (EMO). Methods Sixty-two adolescents with oligomenorrhea without evident hormonal imbalances or severe energy deficit were selected. They were divided into two groups (EMO and FO) and they all underwent the following assessment: physical examination (height, weight, presence of hirsutism or acne), blood exams and transabdominal ultrasonography. The biochemical markers included: hemoglobin, thyrotropin stimulating hormone (TSH), prolactin (PRL), follicle stimulating hormone (FSH), luteinizing hormone (LH), free (FT) and total testosterone (TT), androstenedione (A), dehydroepiandrosterone sulfate (DHEAS) and sex hormone binding globulin (SHBG). Uterine and ovarian volume, ovarian morphology, endometrial thickness and pulsatility index (PI) of uterine arteries were evaluated with ultrasound. Results Body mass index (BMI), hemoglobin, LH levels and LH/FSH ratio were significantly higher in women with EMO than in those with FO. Increased androgens values were found in the EMO group, but only A and FT were significantly different (p=0.04). Ovarian volume and uterine artery PI were the only ultrasound features significantly different, with higher values in the EMO population (p<0.05). Considering these variables, with a receiving characteristic operating curve, new cut-offs were calculated, and a diagnostic assessment tool elaborated (area under curve [AUC] 0.88, specificity 99%, sensibility 59%, p<0.001]. Conclusions This diagnostic tool, specific for adolescents, could be useful in the management of oligomenorrhea. Recognizing and distinguishing EMO and FO is very important in order to establish an appropriate treatment and a correct follow-up.

Challenging diagnosis of thyroid hormone resistance initially as Hashimoto's thyroiditis.

Background Resistance to thyroid hormone (RTH) commonly presents with goiter, attention deficit hyperactivity disorder (ADHD), short stature and tachycardia. However, due to its variable presentation with subtle clinical features, a third of the cases are mistreated, typically as hyperthyroidism. Case presentation A 15-year-old female with ADHD and oligomenorrhea was initially diagnosed as Hashimoto's thyroiditis but found to have a rare heterozygous mutation in c803 C>G (p Ala 268 Gly) in the THRß gene, confirming resistance to thyroid hormone. Conclusions Fluctuating thyroid function tests in addition to thyroid peroxidase antibody (TPO Ab) positivity complicated the diagnosis of RTH, initially diagnosed as Hashimoto's thyroiditis. A high index of suspicion is needed to prevent misdiagnosis and mistreatment.

How to Evaluate Acne in Reproductive-Age Women: An Epidemiological Study in Chinese Communities.

BACKGROUND: Acne is not only a skin condition but also a cardinal component of many systemic diseases or syndromes. This study was aimed to investigate the prevalence of acne in reproductive-age women in Sichuan province, China, and to evaluate acne as a skin problem alone or a symptom of gynecological/endocrinological disease. METHODS: From October 2008 to September 2009, 1043 reproductive-age women from 19 to 45 years of age from seven communities of three districts in Sichuan province completed a standardized questionnaire and a physical examination. Acne was classified using the Pillsbury scale, and hirsutism was assessed using a modified Ferriman-Gallwey method. Diagnosis of polycystic ovary syndrome (PCOS) was based on the 2003 Rotterdam criteria. Some endocrine and metabolic markers were detected for the women diagnosed with PCOS related to acne and the control group. RESULTS: The prevalence of acne was 32.5%, and the highest prevalence (9.6%) was seen in the 19-24-year-old age group. Prevalence among women eating dessert frequently, exercising seldom, or among sedentary workers was significantly higher in the acne group (14.1%, 55.6%, and 51.3%, respectively) than in the nonacne group (10.8%, 45.7%, and 35.5%; all P<0.05). The prevalence of oligomenorrhea and hirsutism in the acne group (17.6%, 24.7%) was significantly higher than in the nonacne group (8.6%, 15.1%; both P<0.05). Among the participants with acne, 64.3% had acne alone, 18.3% were diagnosed with hyperandrogenism, and 17.4% were diagnosed with PCOS. The level of serum androstendione in the group of PCOS (10.98±3.12 nmol/L) was significantly higher than that in the control group (8.85±3.09nmol/L) (P<0.05). CONCLUSION: When reproductive-age women with acne are encountered in gynecology-endocrinology or dermatology clinics, physicians should consider evaluating them from PCOS, hyperandrogenism, or acne alone.

Minimal difference in phenotype between adolescents and young adults with polycystic ovary syndrome.

OBJECTIVE: To test the hypothesis that the polycystic ovary syndrome (PCOS) phenotype, or its component features, is less severe in adolescents than in young adult patients, in a referred (clinical) population. DESIGN: Cross-sectional study. SETTING: Tertiary-care academic medical center. PATIENT(S): Two hundred seventy-four adolescents and young adults aged 13.0-24.9 years with PCOS according to the National Institute of Health 1990 criteria. Patients were categorized as adolescents (AD: 13.0-18.9 years; n = 91) and young adults (YA: 19.0-24.9 years; n = 183). Adolescents were further categorized as early adolescents (Early-AD: 13.0-15.9 years; n = 31) and late adolescents (Late-AD: 16.0-18.9 years; n = 60). INTERVENTION(S): History, physical examination, hormonal assays with the use of standardized protocols. MAIN OUTCOME MEASURE(S): Unadjusted and adjusted odds ratios (ORs; adjusted for body mass index [BMI] when applicable) were calculated for biochemical hyperandrogenism (HA), hirsutism (HIR), acne, and degree of oligo/amenorrhea (OA). PCOS phenotypes were classified as HIR+HA+OA, HA+OA, and HIR+OA. RESULT(S): Our analysis demonstrated minimal significant difference in the prevalence of the three PCOS phenotypes, or component features, between AD and YA patients. The risks for obesity were higher for YA versus AD, and the risk of acne was lower for YA versus AD. There was no significant difference between Early-AD and Late-AD. BMI-adjusted models did not significantly modify the main findings. CONCLUSION(S): The present study suggests that the PCOS phenotype is established in early adolescence, remains constant into adulthood, and is not related to BMI.

LH as a diagnostic criterion for polycystic ovary syndrome in patients with WHO II oligo/amenorrhoea.

Elevated LH is common in polycystic ovary syndrome (PCOS), but is not part of the diagnostic criteria. LH concentrations are usually assessed in the early 'follicular' phase when it is suppressed, and therefore the prevalence is underestimated. In this study, LH is measured during the 'specific oligomenorrhoeic phase', when LH is least suppressed, and its importance as a diagnostic tool for PCOS is evaluated. Patients presenting with oligo- or amenorrhoea between 2002 and 2006 were selected, with the exclusion of women with WHO III oligoamenorrhoea, hyperprolactinaemia or with wrongly timed endocrine measurements. A total of 252 patients were included (198 oligo/amenorrhoeic PCOS patients and 54 oligo/amenorrhoeic controls). Mean LH concentrations were higher in PCOS patients than in controls (11.0 versus 4.1 IU/l, P < 0.001). The receiver operating characteristics (ROC) curve showed an optimal cut-off for LH of > or =6.5 IU/l, resulting in a sensitivity of 84%, specificity of 78% and a likelihood ratio of 3.8, and elevated LH concentrations predicted PCOS accurately in 93%. In conclusion, elevated LH concentrations are found in a large majority of PCOS patients when measured at the appropriate time, and could be used as an additional diagnostic test to differentiate between oligo/amenorrhoeic PCOS patients and other causes of oligo- or anovulation.

Prospective follow-up of menstrual disorders in adolescence and prognostic factors.

OBJECTIVE: Clinical follow-up of menstrual status and eating behavior in grown-up women diagnosed with menstrual disturbance in adolescence. DESIGN: Prospective follow-up study six years after the initial study. SETTING: A youth clinic that is part of the school health system in Stockholm. POPULATION: Eighty-seven women diagnosed with secondary amenorrhea or oligomenorrhea in adolescence. METHODS: Subjects underwent gynecological examination, evaluation of eating behavior and endocrine status. MAIN OUTCOME MEASURES: Menstrual status and eating behavior changes. RESULTS: Menstrual disturbances were still present in 62% of the subjects not using hormonal contraception, 59% of which fulfilled the criteria for polycystic ovary syndrome (PCOS). The frequency of persistent menstrual disturbance was significantly more common in women with previous oligomenorrhea than secondary amenorrhea. The occurrence of eating disorders was decreased by half to 31% in women diagnosed with secondary amenorrhea at the initial study, whereas it was unchanged (40%) in women with previous oligomenorrhea. Recovery from anorectic behavior, primarily in the group of secondary amenorrhea, significantly predicted resumption with menses. CONCLUSION: Menstrual disturbances and eating disorders were still frequent after six years in a follow-up of women who had menstrual disturbance in adolescence. PCOS was the main cause explaining persistent menstrual disorder, whereas recovery of anorectic eating disorders predicted resumption of menses. The findings call for a continued follow-up of women diagnosed with menstrual disturbance in their teens.

Insulin gene polymorphism in women with polycystic ovary syndrome.

Insulin resistance is one of the main characteristics of polycystic ovary syndrome (PCOS) and is probably genetically predisposed. Possible associations of variable nucleotide tandem repeat (VNTR) polymorphism of the insulin gene (INS) with insulin resistance and PCOS in Slovene patients were investigated. A total of 117 PCOS patients and 108 age-matched female controls were genotyped for the INS VNTR polymorphism using real-time polymerase chain reaction and measurement of appropriate biochemical and clinical parameters. Serum fasting insulin (I(0)) levels and the homeostasis model assessment index were significantly elevated in PCOS patients compared with controls. Class III INS VNTR alleles were significantly more frequent in the PCOS group. The interaction between body mass index and INS VNTR genotype was a significant predictor of serum I(0) level. The interaction of obesity and the III/III INS VNTR genotype might be a risk factor for the development of PCOS.

Role of Versican and ADAMTS-1 in Polycystic Ovary Syndrome.

OBJECTIVE: ADAMTS-1 is a matrix metalloproteinase which cleaves versican in the cumulus oocyte complex under the effect of luteinizing hormone surge in the periovulatory period. Altered levels may have a role in the pathogenesis of polycystic ovary syndrome (PCOS). We aimed to determine the serum versican and ADAMTS-1 (a disintegrin and metalloproteinase with thrombospondin motif-1) levels in PCOS patients and compare the results with healthy controls. METHODS: Thirty-eight patients with PCOS and forty healthy controls aged between 15 and 22 years were included in the study. They were sampled according to their basal hormone, serum versican, and ADAMTS-1 levels. Serum versican and ADAMTS-1 levels were measured by enzyme-linked immunosorbent assay. A multivariate logistic regression model was used to identify the independent risk factors of PCOS. RESULTS: Serum versican levels were significantly decreased in the PCOS group when compared with the controls. The best versican cut-off value for PCOS was calculated to be 33.65 with 76.74% sensitivity and 52.94% specificity. Serum versican levels, homeostasis model assessment of insulin resistance index, a Ferriman-Gallwey score higher than 8, and oligomenorrhea were the strongest predictors of PCOS. Serum versican levels were significantly decreased in PCOS patients. Besides, serum ADAMTS-1 and versican levels were significantly and positively correlated with each other. CONCLUSION: Serum versican levels were significantly decreased in patients with PCOS. This suggests a possible role of versican in ovulatory dysfunction and in the pathogenesis of PCOS.

High Prevalence of Polycystic Ovary Syndrome in Type 1 Diabetes Mellitus Adolescents: Is There a Difference Depending on the NIH and Rotterdam Criteria?

BACKGROUND: Polycystic ovary syndrome (PCOS) is more frequently observed in type 1 diabetes mellitus (T1DM) adult women than in nondiabetic women. No such prevalence has yet been studied in adolescent girls with T1DM. AIM: The aim of this study was to evaluate the prevalence of PCOS in adolescent girls with T1DM and to determine the clinical and hormonal features associated with the disorder. METHODS: A cross-sectional study of 53 adolescent girls (gynecological age >2 years) referred for routine evaluation for T1DM was conducted. We diagnosed PCOS using the National Institutes of Health (NIH) and Rotterdam criteria. RESULTS: 26.4 and 47.9% of adolescents had PCOS according to NIH (NIH-PCOS) and Rotterdam (Rotterdam-PCOS) criteria. 66.7% of NIH-PCOS adolescents had a complete phenotype associated with hyperandrogenism, oligomenorrhea, and polycystic ovarian morphology, unlike only 33.3% of the Rotterdam-PCOS adolescents. A family history of type 2 diabetes mellitus (T2DM) was more frequent in PCOS than in non-PCOS girls, whichever criteria were used. Late pubertal development and a T1DM diagnosis close to puberty were factors associated with NIH-PCOS. CONCLUSION: Adolescents with T1DM had a high prevalence of PCOS. More differences between PCOS and non-PCOS patients were found using the NIH criteria, suggesting that clinical characteristics might be more accurate for diagnosing PCOS in girls with T1DM. A family history of T2DM is associated with a high risk of PCOS.

Do the Anti-Müllerian Hormone Levels of Adolescents with Polycystic Ovary Syndrome, Those Who Are at Risk for Developing Polycystic Ovary Syndrome, and Those Who Exhibit Isolated Oligomenorrhea Differ from Those of Adolescents with Normal Menstrual Cycles?

BACKGROUND/AIMS: We aimed to investigate whether the anti-Müllerian hormone (AMH) levels in adolescents with polycystic ovary syndrome (PCOS), PCOS risk, and isolated oligomenorrhea (OM) were different than in adolescents with a normal/regular menstrual cycle (NMC). METHODS: The diagnosis of PCOS was based on the 2012 Amsterdam [European Society of Human Reproduction and Embryology/American Society for Reproductive Medicine (ESHRE/ASRM)] criteria. The PCOS group consisted of cases meeting 3 diagnostic criteria (n = 21), and the PCOS risk group was the 'at risk' group meeting 2 diagnostic criteria (n = 20). Cases with isolated OM that did not satisfy other PCOS diagnostic criteria made up the OM group (n = 21). Thirty adolescent girls with NMCs (21-45 days) were recruited in this study. RESULTS: The AMH levels in the PCOS group were similar to those in the PCOS risk group but significantly higher than those in the OM and NMC groups. The AMH levels in the PCOS risk group were similar to those in the OM group and significantly higher than those in the NMC group. They were also significantly higher in the OM group compared to the NMC group. The specificity for PCOS and PCOS risk with a cutoff value of 7.25 ng/ml for AMH was 72.5% and the sensitivity was 58%. CONCLUSION: An AMH cutoff value of 7.25 ng/ml can be used for the diagnosis of PCOS in the adolescent period.