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

July 2005 in “ Human Reproduction Update ”

Evanthia Diamanti‐Kandarakis, Christina Piperi

TLDR PCOS is influenced by both genes and environment, but its exact genetic cause is still unclear.

Polycystic ovary syndrome (PCOS) was recognized as a complex and heterogeneous endocrine disorder affecting women of reproductive age, with a strong familial component suggesting a polygenic trait influenced by environmental factors. Despite early observations of familial clustering, genetic studies had not determined a clear pattern of heredity due to diagnostic challenges and phenotypic variability. Research focused on identifying candidate genes involved in reproductive and metabolic pathways aimed to clarify the pathophysiology of PCOS and improve therapeutic approaches.

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Research cited in this study

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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”

The 2003 consensus updated PCOS diagnosis criteria and highlighted increased risks of diabetes and heart disease for those affected.

research The Pathophysiology of Polycystic Ovary Syndrome

249 citations , November 2003 in “Clinical endocrinology”

Insulin resistance is a key factor in polycystic ovary syndrome, but genetics may also contribute.

research Developmental Origin of Polycystic Ovary Syndrome: A Hypothesis

430 citations , July 2002 in “Journal of Endocrinology”

The hypothesis suggests that PCOS may start early in life due to genetic and environmental factors, influencing future reproductive and metabolic problems.

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”

The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.

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”

Polycystic ovary syndrome is found in 6.5% of unselected Caucasian women in 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”

PCOS affects a similar percentage of Black and White women in the Southeastern United States.

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”

Most women with hirsutism or androgenic alopecia had polycystic ovaries, especially if they had irregular periods.

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

179 citations , July 2005 in “Human Reproduction Update”

PCOS is influenced by both genes and environment, but its exact genetic cause is still unclear.