Genetics of the polycystic ovary syndrome

Gülüm Kosova, Margrit Urbanek*

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

141 Scopus citations


Polycystic ovary syndrome (PCOS) is a highly complex endocrine disorder, characterized by hyperandrogenemia, menstrual irregularities and polycystic ovaries. A strong genetic component to the etiology of PCOS is evident. However, due to the genetic and phenotypic heterogeneity of PCOS and the lack of insufficiently large cohorts, studies to identify specific contributing genes to date have yielded only few conclusive results. In this review we discuss the current status of the genetic analysis of PCOS including the results of numerous association studies with candidate genes involved in TGF-β and insulin signaling, type 2 diabetes mellitus and obesity susceptibility. Furthermore, we address current challenges in genetic studies of PCOS, and the promise of new approaches, including genome-wide association studies and next-generation sequencing.

Original languageEnglish (US)
Pages (from-to)29-38
Number of pages10
JournalMolecular and Cellular Endocrinology
Issue number1-2
StatePublished - Jul 5 2013


  • Association studies
  • Complex diseases
  • GWAS
  • PCOS

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Endocrinology


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