Genetics of Polycystic Ovary Syndrome: Searching for the Way Out of the Labyrinth

July 2005 in “ Human Reproduction Update ”

Evanthia Diamanti‐Kandarakis, Christina Piperi

polycystic ovary syndrome PCOS endocrine disorder reproductive pathways metabolic pathways genetic studies familial clustering phenotypic variability

Studysummary This review discusses the genetic basis and familial patterns of polycystic ovary syndrome, noting a strong familial component but inconclusive genetic patterns; it reports no new empirical findings.

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research Revised 2003 Consensus on Diagnostic Criteria and Long-Term Health Risks Related to Polycystic Ovary Syndrome

4809 citations , January 2004 in “Fertility and Sterility”

This review discusses polycystic ovary syndrome, emphasizing its broad range of manifestations and associations with risks like type 2 diabetes and cardiovascular events, but reports no new clinical results.

research The Pathophysiology of Polycystic Ovary Syndrome

249 citations , November 2003 in “Clinical endocrinology”

This review discusses the complex etiology of polycystic ovary syndrome (PCOS), highlighting its association with insulin resistance and hyperandrogenism, but reports no clinical findings; the authors suggest further investigation of the pathophysiological mechanisms.

research Developmental Origin of Polycystic Ovary Syndrome: A Hypothesis

430 citations , July 2002 in “Journal of Endocrinology”

This hypothesis paper suggests that PCOS may result from genetically determined ovarian hypersecretion of androgens, influencing hormone regulation and insulin resistance, with obesity further affecting its severity; no new clinical results are reported.

A Variant of the Glucocorticoid Receptor Gene Is Not Associated with Adrenal Androgen Excess in Women with Polycystic Ovary Syndrome

research A Variant of the Glucocorticoid Receptor Gene Is Not Associated with Adrenal Androgen Excess in Women with Polycystic Ovary Syndrome

20 citations , December 2000 in “Fertility and Sterility”

This study found that the N363S variant of the glucocorticoid receptor was rare among women with PCOS and did not significantly contribute to genetic risk for PCOS or adrenal androgen excess.

research A Prospective Study of the Prevalence of Polycystic Ovary Syndrome in Unselected Caucasian Women from Spain

491 citations , July 2000 in “The Journal of Clinical Endocrinology and Metabolism”

This study found that the prevalence of polycystic ovary syndrome was 6.5% in a minimally biased sample of Caucasian women from Spain.

research Prevalence of Polycystic Ovary Syndrome in Unselected Black and White Women of the Southeastern United States: A Prospective Study

633 citations , September 1998 in “The Journal of Clinical Endocrinology and Metabolism”

This study observed that among a cohort of reproductive-aged women in the U.S., the prevalence of PCOS was about 4.0%, with no significant racial differences between White and Black women.

A Prospective Study of the Prevalence of Clear-Cut Endocrine Disorders and Polycystic Ovaries in 350 Patients Presenting with Hirsutism or Androgenic Alopecia

research A Prospective Study of the Prevalence of Clear-Cut Endocrine Disorders and Polycystic Ovaries in 350 Patients Presenting with Hirsutism or Androgenic Alopecia

135 citations , August 1994 in “Clinical Endocrinology”

In this study of women with hirsutism or androgenic alopecia, diverse underlying endocrine disorders including polycystic ovaries and various enzyme deficiencies were detected, often associated with elevated testosterone levels.