What is the role of genetics in the etiology of polycystic ovarian syndrome (PCOS)?

Updated: Sep 19, 2019
  • Author: Richard Scott Lucidi, MD, FACOG; Chief Editor: Richard Scott Lucidi, MD, FACOG  more...
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PCOS is a genetically heterogeneous syndrome in which the genetic contributions remain incompletely described. PCOS is an inherently difficult condition to study genetically because of its heterogeneity, difficulty with retrospective diagnosis in postmenopausal women, associated subfertility, incompletely understood etiology, and gene effect size. [7] Many published genetics studies in PCOS have been underpowered, and the results of published candidate gene studies have been disappointing.

Studies of family members with PCOS indicate that an autosomal dominant mode of inheritance occurs for many families with this disease. The fathers of women with PCOS can be abnormally hairy; female siblings may have hirsutism and oligomenorrhea; and mothers may have oligomenorrhea. [18] Research has suggested that in a large cohort of women with PCOS, a family history of type 2 diabetes in a first-degree family member is associated with an increased risk of metabolic abnormality, impaired glucose tolerance, and type II diabetes. [18] In addition, a Dutch twin-family study showed a PCOS heritability of 0.71 in monozygotic twin sisters, versus 0.38 in dizygotic twins and other sisters. [19]

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