The genetics of polycystic ovary syndrome

Paula Amato, Joe Leigh Simpson

Research output: Contribution to journalReview articlepeer-review

80 Scopus citations


Polycystic ovary syndrome (PCOS) is a heterogeneous disorder. There is evidence for a genetic component in PCOS based on familial clustering of cases. The majority of the evidence supports an autosomal dominant form of inheritance. Steroidogenesis has been shown to be upregulated in PCOS theca cells, suggesting that the genetic abnormality in PCOS affects signal transduction pathways controlling the expression of a family of genes. Although a number of candidate genes have been proposed, the putative PCOS gene(s) has yet to be identified. Linkage and association studies implicate a region near the insulin receptor gene at chr 19p13.3. New genetic approaches, such as microarray technology, hold promise for elucidation of the pathophysiology underlying PCOS.

Original languageEnglish (US)
Pages (from-to)707-718
Number of pages12
JournalBest Practice and Research: Clinical Obstetrics and Gynaecology
Issue number5 SPEC. ISS.
StatePublished - Oct 2004
Externally publishedYes


  • Genetics
  • Hyperandrogenism
  • Polycystic ovaries

ASJC Scopus subject areas

  • Obstetrics and Gynecology


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