Criteria, phenotypes and prevalence of polycystic ovary syndrome.

Polycystic ovarian syndrome (PCOS) is known as one of the most frequent endocrine diseases in women worldwide. However, this term does not completely capture the diversity of clinical signs associated with this syndrome e.g., menstrual irregularity and clinical features of androgen excess, which are though commonplace in women with PCOS, they are not included under the definition of PCOS, limited to polycystic ovarian morphology (PCOM). Utilizing the most globally accepted criterion used today in the diagnosis of PCOS, the authors of this article review and discuss the historical and current context of evidence as well as their limitations. This review addresses the phenotypic approach and age-dependent aspects of PCOS in adolescents, adult and peri/postmenopausal women, as presented in the NIH (1990, 2012), Rotterdam (2003), AE-PCOS Society (2006) consensuses and in the latest evidence-based international guideline (2018). Global data on the epidemiology of PCOS, including prevalence and distribution of polycystic ovarian syndrome phenotypes, is also analyzed in the article. Lastly, the authors discuss the importance and current need to perform more epidemiological studies focused on PCOS.

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.

Why we need epidemiologic studies of polycystic ovary syndrome in Africa.

The primary objective of the Ghana Polycystic Ovary Syndrome Epidemiology and Phenotype (Ghana-PEP) study will be to assess the relevance and phenotypic distribution of polycystic ovarian syndrome (PCOS) in a medically unbiased population of reproductive-aged women. In addition, the study will also attempt to identify sociodemographic, environmental, and psychological factors that may play a role in the development of PCOS phenotype. The study aims to recruit 990 randomly selected women aged 18-45 years living in Nsawam, the district capital of the Nsawam-Adoagyiri Municipality, in the Eastern region of Ghana. Participants will complete a questionnaire with the aid of trained personnel, undergo a physical examination, and undergo ultrasonography and biochemical evaluations relevant to PCOS. It is anticipated that the study will provide the population prevalence and phenotypes, and distribution of PCOS.

Perspectives on Polycystic Ovary Syndrome: Is Polycystic Ovary Syndrome Research Underfunded?

Context: Polycystic ovary syndrome (PCOS) is a common endocrine-metabolic abnormality with a worldwide prevalence of 4% to 21%, depending on diagnostic criteria. The National Institutes of Health (NIH) is the largest single funding agency in the world; it invests nearly $30.0 billion annually in biomedical research. Evidence Acquisition: Using the NIH Research Portfolio Online Reporting tool, we searched for all grants awarded by the NIH for PCOS and three other disorders with similar degrees of morbidity and similar or lower mortality and prevalence [rheumatoid arthritis (RA), tuberculosis (TB), and systemic lupus erythematosus (SLE)]. Evidence Synthesis: We compared funding by the NIH for PCOS, RA, TB, and SLE research for the years 2006 to 2015, inclusive. Conclusion: PCOS, compared with RA, TB, and SLE, was relatively less funded (total mean 10-year funding was $215.12 million vs $454.39 million, $773.77 million, and $609.52 million, respectively). Funding for PCOS was largely provided by one NIH Institute/Center (ICs) vs at least two ICs for SLE and RA; more individual Research Project Grants were awarded for RA, SLE, and TB than for PCOS, whereas PCOS funding was more likely to be through General Clinical Research Centers Program or Specialized Centers Program awards. Our data suggest that PCOS research may be underfunded considering its prevalence, economic burden, metabolic morbidity, and negative impact on quality of life. Greater education of NIH leaders, including those at the National Heart, Lung, and Blood Institute and National Institutes of Diabetes and Digestive and Kidney Diseases; other federal and state agency leads; elected leaders; and the general public by professional societies, the scientific community, and patient advocates regarding this disorder is needed.

Genetic basis of eugonadal and hypogonadal female reproductive disorders.

This review discusses the current state of our understanding regarding the genetic basis of the most important reproductive disorders in women. For clarity, these disorders have been divided into eugonadal and hypogonadal types. Hypogonadal disorders have been further subdivided according to serum gonadotropin levels. Our review focuses on historical and recent data regarding the genetics of the hypothalamic-pituitary-gonadal axis dysfunction, as well as the development and etiology of eugonadal disorders including leiomyomata, endometriosis, spontaneous ovarian hyperstimulation syndrome, polycystic ovarian syndrome, mullerian aplasia, and steroid hormone resistance syndromes. We discuss the known genes most commonly involved in hypergonadotropic hypogonadism (Turner syndrome and premature ovarian failure) and hypogonadotrophic hypogonadism (Kallmann syndrome and normosmic types). In addition, we summarize the current clinical testing approaches and their utility in practical application.

Genetics of polycystic ovary syndrome.

INTRODUCTION: Polycystic ovary syndrome (PCOS) is a hormonal and metabolic disorder affecting 5 to 20% of reproductive-aged women worldwide that results in androgen excess, menstrual dysfunction and oligo-ovulatory subfertility, with increased risks for type 2 diabetes, endometrial adenocarcinoma, and potentially vascular disease, among other morbidities. PCOS is a complex genetic trait with strong heritability accounting for as high as 70% of the development of the disorder. Areas covered: The authors summarize the historical and recent findings of genetic studies of PCOS, such as familial studies, twin studies, and molecular genetic studies, including the results of recent genome wide associated studies. PubMed, Medline and Embase database were used to search relevant articles. Included studies were predominately conducted in Asia, North Africa, North America, and Europe. Expert commentary: Current studies aim to establish the role and function of identified genes; such efforts could serve as potential platforms for novel diagnostic and treatments for PCOS patients. The etiology of PCOS will be better understood as more data is gathered systematically, subjects are better phenotyped larger populations are recruited, and a better understanding of the role of genetic architecture, genetic variation, epigenetics, and gene-gene, gene-environment, and gene-phenotype interaction is obtained.

Androgen excess: Investigations and management.

Androgen excess (AE) is a key feature of polycystic ovary syndrome (PCOS) and results in, or contributes to, the clinical phenotype of these patients. Although AE will contribute to the ovulatory and menstrual dysfunction of these patients, the most recognizable sign of AE includes hirsutism, acne, and androgenic alopecia or female pattern hair loss (FPHL). Evaluation includes not only scoring facial and body terminal hair growth using the modified Ferriman-Gallwey method but also recording and possibly scoring acne and alopecia. Moreover, assessment of biochemical hyperandrogenism is necessary, particularly in patients with unclear or absent hirsutism, and will include assessing total and free testosterone (T), and possibly dehydroepiandrosterone sulfate (DHEAS) and androstenedione, although these latter contribute limitedly to the diagnosis. Assessment of T requires use of the highest quality assays available, generally radioimmunoassays with extraction and chromatography or mass spectrometry preceded by liquid or gas chromatography. Management of clinical hyperandrogenism involves primarily either androgen suppression, with a hormonal combination contraceptive, or androgen blockade, as with an androgen receptor blocker or a 5α-reductase inhibitor, or a combination of the two. Medical treatment should be combined with cosmetic treatment including topical eflornithine hydrochloride and short-term (shaving, chemical depilation, plucking, threading, waxing, and bleaching) and long-term (electrolysis, laser therapy, and intense pulse light therapy) cosmetic treatments. Generally, acne responds to therapy relatively rapidly, whereas hirsutism is slower to respond, with improvements observed as early as 3 months, but routinely only after 6 or 8 months of therapy. Finally, FPHL is the slowest to respond to therapy, if it will at all, and it may take 12 to 18 months of therapy for an observable response.

Criteria, prevalence, and phenotypes of polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS) is a highly prevalent disorder effecting reproductive-aged women worldwide. This article addresses the evolution of the criteria used to diagnosis PCOS; reviews recent advances in the phenotypic approach, specifically in the context of the extended Rotterdam criteria; discusses limitations of the current criteria used to diagnosis, particularly when studying adolescents and women in the peri- and postmenopause; and describes significant strides made in understanding the epidemiology of PCOS. This review recognizes that although there is a high prevalence of PCOS, there is increased variability when using Rotterdam 2003 criteria, owing to limitations in population sampling and approaches used to define PCOS phenotypes. Last, we discuss the distribution of PCOS phenotypes, their morbidity, and the role that referral bias plays in the epidemiology of this syndrome.