scholarly journals The Molecular-Genetic Basis of Functional Hyperandrogenism and the Polycystic Ovary Syndrome

2005 ◽  
Vol 26 (2) ◽  
pp. 251-282 ◽  
Author(s):  
Héctor F. Escobar-Morreale ◽  
Manuel Luque-Ramírez ◽  
José L. San Millán
Keyword(s):  
Environmental Factors ◽  
Polycystic Ovary Syndrome ◽  
Diagnostic Criteria ◽  
Genetic Basis ◽  
Polycystic Ovary ◽  
Molecular Genetic ◽  
Ovary Syndrome ◽  
The Metabolic Syndrome ◽  
Molecular Genetic Basis ◽  
Functional Hyperandrogenism

The genetic mechanisms underlying functional hyperandrogenism and the polycystic ovary syndrome (PCOS) remain largely unknown. Given the large number of genetic variants found in association with these disorders, the emerging picture is that of a complex multigenic trait in which environmental influences play an important role in the expression of the hyperandrogenic phenotype. Among others, genomic variants in genes related to the regulation of androgen biosynthesis and function, insulin resistance, and the metabolic syndrome, and proinflammatory genotypes may be involved in the genetic predisposition to functional hyperandrogenism and PCOS. The elucidation of the molecular genetic basis of these disorders has been burdened by the heterogeneity in the diagnostic criteria used to define PCOS, the limited sample size of the studies conducted to date, and the lack of precision in the identification of ethnic and environmental factors that trigger the development of hyperandrogenic disorders. Progress in this area requires adequately sized multicenter collaborative studies after standardization of the diagnostic criteria used to classify hyperandrogenic patients, in whom modifying environmental factors such as ethnicity, diet, and lifestyle are identified with precision. In addition to classic molecular genetic techniques such as linkage analysis in the form of a whole-genome scan and large case-control studies, promising genomic and proteomic approaches will be paramount to our understanding of the pathogenesis of functional hyperandrogenism and PCOS, allowing a more precise prevention, diagnosis, and treatment of these prevalent disorders.

scholarly journals Is polycystic ovary syndrome appropriately diagnosed by obstetricians and gynaecologists across China: a nationwide survey

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Deng Yan ◽  
Wang Yan-Fang ◽  
Zhu Shi-Yang ◽  
Ma Rui-Lin ◽  
Ding Xue-Song ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Diagnostic Criteria ◽  
Polycystic Ovary ◽  
Final Analysis ◽  
Nationwide Survey ◽  
Care Quality ◽  
Cross Sectional Survey ◽  
Ovary Syndrome ◽  
Cross Sectional ◽  
Rotterdam Criteria

Abstract Background To describe the diagnostic criteria used and their application accuracy in the practice of polycystic ovary syndrome (PCOS) caring among obstetricians and gynaecologists across China. Methods This was an Online cross-sectional survey of Obstetricians and gynecologists involved in PCOS caring conducted via the largest continuing education platform of obstetrics and gynecology across China from September 2019 to November 2019. Results A total of 2,328 respondents were eligible for the final analysis. Of these, 94.5 % were general obstetricians and gynaecologists (Ge-ObGyn), and 5.5 % were reproductive endocrinologists (Re-ObGyn). Overall, the most frequently used criteria were the Androgen Excess and Polycystic Ovary Syndrome Society (AE-PCOS) criteria (48.2 %), followed by the Rotterdam criteria (35.7 %) and NIH criteria (12.1 %). Of the respondents, 31.3 % used their diagnostic criteria in their clinical practice. More respondents who chose the Rotterdam criteria could accurately apply the diagnostic criteria than those who chose the AE-PCOS criteria (41.2 % vs. 32.1 %, P < 0.001). Compared with Ge-ObGyn, Re-ObGyn were less likely to use the AE-PCOS criteria (adjusted odds ratio, 0.513; 95 % CI, 0.328–0.802; P < 0.05) and 1.492 times more likely to accurately use their criteria (95 % CI, 1.014–2.196; P < 0.05). Conclusions Less than one-third of obstetricians and gynaecologists across China could accurately use the diagnostic criteria they choose to diagnose PCOS. There is an urgent need to train obstetricians and gynaecologists on PCOS diagnosis in an effort to improve the medical care quality of patients with PCOS.

Prevalence of the metabolic syndrome in women with a previous diagnosis of polycystic ovary syndrome: long-term follow-up

2011 ◽  
Vol 96 (5) ◽  
pp. 1271-1274 ◽  
Author(s):  
Miriam Hudecova ◽  
Jan Holte ◽  
Matts Olovsson ◽  
Anders Larsson ◽  
Christian Berne ◽  
...  
Keyword(s):  
Metabolic Syndrome ◽  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Ovary Syndrome ◽  
The Metabolic Syndrome ◽  
Previous Diagnosis ◽  
Long Term Follow Up

scholarly journals Phenotypic clustering reveals distinct subtypes of polycystic ovary syndrome with novel genetic associations

2019 ◽  
Author(s):  
Matthew Dapas ◽  
Frederick T. J. Lin ◽  
Girish N. Nadkarni ◽  
Ryan Sisk ◽  
Richard S. Legro ◽  
...  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Diagnostic Criteria ◽  
Polycystic Ovary ◽  
Reproductive Age ◽  
European Ancestry ◽  
Sequencing Analysis ◽  
Ovary Syndrome ◽  
Biologically Relevant ◽  
Insulin Levels ◽  
Family Based

AbstractBackgroundPolycystic ovary syndrome (PCOS) is a common, complex genetic disorder affecting up to 15% of reproductive age women worldwide, depending on the diagnostic criteria applied. These diagnostic criteria are based on expert opinion and have been the subject of considerable controversy. The phenotypic variation observed in PCOS is suggestive of an underlying genetic heterogeneity, but a recent meta-analysis of European ancestry PCOS cases found that the genetic architecture of PCOS defined by different diagnostic criteria was generally similar, suggesting that the criteria do not identify biologically distinct disease subtypes. We performed this study to test the hypothesis that there are biologically relevant subtypes of PCOS.Methods and FindingsUnsupervised hierarchical cluster analysis was performed on quantitative anthropometric, reproductive, and metabolic traits in a genotyped discovery cohort of 893 PCOS cases and an ungenotyped validation cohort of 263 PCOS cases. We identified two PCOS subtypes: a “reproductive” group (21-23%) characterized by higher luteinizing hormone (LH) and sex hormone binding globulin (SHBG) levels with relatively low body mass index (BMI) and insulin levels; and a “metabolic” group (37-39%), characterized by higher BMI, glucose, and insulin levels with lower SHBG and LH levels. We performed a GWAS on the genotyped cohort, limiting the cases to either the reproductive or metabolic subtypes. We identified alleles in four novel loci that were associated with the reproductive subtype at genome-wide significance (PRDM2/KAZN1, P=2.2×10-10; IQCA1, P=2.8×10-9; BMPR1B/UNC5C, P=9.7×10-9; CDH10, P=1.2×10-8) and one locus that was significantly associated with the metabolic subtype (KCNH7/FIGN, P=1.0×10-8). We have previously reported that rare variants in DENND1A, a gene regulating androgen biosynthesis, were associated with PCOS quantitative traits in a family-based whole genome sequencing analysis. We classified the reproductive and metabolic subtypes in this family-based PCOS cohort and found that the subtypes tended to cluster in families and that carriers of rare DENND1A variants were significantly more likely to have the reproductive subtype of PCOS. Limitations of our study were that only PCOS cases of European ancestry diagnosed by NIH criteria were included, the sample sizes for the subtype GWAS were small, and the GWAS findings were not replicated.ConclusionsIn conclusion, we have found stable reproductive and metabolic subtypes of PCOS. Further, these subtypes were associated with novel susceptibility loci. Our results suggest that these subtypes are biologically relevant since they have distinct genetic architectures. This study demonstrates how precise phenotypic delineation can be more powerful than increases in sample size for genetic association studies.

scholarly journals Treatment of infertility in women with polycystic ovary syndrome using assisted reproductive technology

2017 ◽  
Vol 66 (5) ◽  
pp. 37-45
Author(s):  
Roza M. Danielyan ◽  
Alexander M. Gzgzyan
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Assisted Reproductive Technology ◽  
Diagnostic Criteria ◽  
Polycystic Ovary ◽  
Reproductive Technology ◽  
Ovary Syndrome

The article recent data concerning the pathogenesis, diagnostic criteria and hormonal disorders in the polycystic ovary syndrome are presented. A sequential step-by-step treatment of this disease is also described. Pаrticulаr аttention is pаid to the treаtment of infertility in women with PCOS using аssisted reproductive technology.

Molecular genetic predictors of polycystic ovary syndrome and its androgenic phenotypes

2021 ◽  
Vol 4_2021 ◽  
pp. 120-127
Author(s):  
Chernukha G.E. Chernukha ◽  
Naidukova A.A. Naidukova ◽  
Kaprina E.K. Kaprina ◽  
Donnikov A.E. Donnikov ◽  
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Molecular Genetic ◽  
Ovary Syndrome ◽  
Genetic Predictors

Polycystic ovary syndrome: metabolic aspects

2011 ◽  
pp. 1235-1239
Author(s):  
Richard S. Legro
Keyword(s):  
Polycystic Ovary Syndrome ◽  
Insulin Action ◽  
Polycystic Ovary ◽  
Metabolic Abnormalities ◽  
Polycystic Ovaries ◽  
Ovary Syndrome ◽  
Insulin Resistant ◽  
The Metabolic Syndrome ◽  
Health Disorders

Polycystic ovary syndrome (PCOS) is thought to be primarily a disorder that affects women during their reproductive years. The diagnostic criteria reflect ovarian dysfunction, i.e. hyperandrogenism, anovulation, and polycystic ovaries. However, women with PCOS appear to be uniquely insulin resistant, are frequently obese, and may be at risk for a variety of long-term health disorders including diabetes, cardiovascular disease, and cancers. Although the endocrine and reproductive features of the disorder improve with age, the associated metabolic abnormalities, particularly components of the metabolic syndrome, may actually worsen. This chapter will explore the pathophysiology of aberrant insulin action in women with PCOS, recognition of long-term risks, and preventive strategies.

Polycystic ovary syndrome: reproductive aspects

2011 ◽  
pp. 1229-1234
Author(s):  
Sophie Catteau-Jonard ◽  
Cécile Gallo ◽  
Didier Didier
Keyword(s):  
Insulin Resistance ◽  
Metabolic Syndrome ◽  
Polycystic Ovary Syndrome ◽  
Polycystic Ovary ◽  
Reproductive Age ◽  
Therapeutic Approaches ◽  
Women Of Reproductive Age ◽  
Ovary Syndrome ◽  
Common Cause ◽  
The Metabolic Syndrome

The polycystic ovary syndrome (PCOS) is the most common cause of anovulation and hyperandrogenism in women, affecting between 5 and 10% of women of reproductive age worldwide (1). Although this difficult topic in endocrine gynaecology is under extensive research, controversies still remain about the pathophysiology, diagnosis, and therapy of PCOS. The PCOS phenotype can be structured in three components: manifestations of anovulation, hyperandrogenism, and the metabolic syndrome (of which hyperinsulinaemia secondary to insulin resistance is the central abnormality). The latter two are addressed in other chapters. Our knowledge about the mechanism of disturbed folliculogenesis in PCOS that is responsible for its reproductive aspects has much increased these last years, thus opening new avenues for the diagnostic and therapeutic approaches.

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