The genetics of the polycystic ovary syndrome

Margrit Urbanek*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

142 Scopus citations


Polycystic ovary syndrome (PCOS) is a very common endocrine disorder that has a strong genetic component and is characterized by polycystic ovaries, hyperandrogenemia, and menstrual irregularity. During the past decade, the roles of more than 70 candidate genes have been evaluated for a causal role in PCOS; however, because of genetic and phenotypic heterogeneity and underpowered studies, the results of many of these studies remain inconclusive. Here, the results of the genetic analysis of several candidate genes and gene regions - CYP11A (encoding cytochrome P450, family 11, subfamily A polypeptides), CAPN10 (encoding calpain 10), the insulin gene VNTR (variable number of tandem repeats), and D19S884 (a dinucleotide repeat marker mapping to chromosome 19p13.2) - are discussed in detail. Although past genetic studies of PCOS have yielded only modest results, resources and techniques have been assembled to remedy the major deficits of these early studies, promising that the next few years will be a very exciting and rewarding era for the genetic analysis of PCOS.

Original languageEnglish (US)
Pages (from-to)103-111
Number of pages9
JournalNature Clinical Practice Endocrinology and Metabolism
Issue number2
StatePublished - Feb 2007


  • CAPN10
  • CYP11A
  • D19S884
  • Genetics of complex diseases
  • Polycystic ovary syndrome

ASJC Scopus subject areas

  • Endocrinology, Diabetes and Metabolism
  • Endocrinology


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