Prevalence of polycystic ovary syndrome (PCOS) in first-degree relatives of patients with PCOS

Fertil Steril. 2001 Jan;75(1):53-8. doi: 10.1016/s0015-0282(00)01662-9.


Objective: To determine the rate of clinically evident polycystic ovary syndrome (PCOS) among first-degree female relatives within families with a proband affected by PCOS.

Design: Clinical and biochemical evaluation of the mothers and sisters of 93 patients with PCOS. The diagnosis of PCOS was established by: [1] a history of oligomenorrhea, [2] clinical evidence (i.e., hirsutism) or biochemical evidence (i.e., elevated total or free T) of hyperandrogenism, and [3] the exclusion of related disorders.

Setting: Tertiary care university.

Patient(s): Patients with PCOS and their mothers and sisters.

Intervention(s): Interview, physical examination, and hormonal testing on blood samples were performed for all subjects.

Main outcome measure(s): The presence of hirsutism and hyperandrogenemia was determined in the mothers and sisters of the patients with PCOS.

Result(s): Of the 78 mothers and 50 sisters evaluated clinically, 19 (24%) and 16 (32%) were affected with PCOS, respectively. A higher rate of PCOS was observed when only premenopausal women not taking hormones (i.e., untreated) were considered (i.e., 35% of mothers and 40% of sisters), consistent with amelioration of symptoms with hormonal therapy or aging. These rates of PCOS are significantly higher than that observed in our general population (approximately 4%) and suggest the involvement of a major genetic component in the disorder.

Conclusion(s): The rates of PCOS in mothers and sisters of patients with PCOS were 24% and 32%, respectively, although the risk was higher when considering untreated premenopausal women only.

Publication types

  • Clinical Trial
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adolescent
  • Adult
  • Female
  • Hirsutism / epidemiology
  • Hirsutism / etiology
  • Humans
  • Hyperandrogenism / epidemiology
  • Hyperandrogenism / etiology
  • Middle Aged
  • Oligomenorrhea / epidemiology
  • Oligomenorrhea / etiology
  • Polycystic Ovary Syndrome / complications
  • Polycystic Ovary Syndrome / epidemiology*
  • Polycystic Ovary Syndrome / genetics*
  • Prospective Studies
  • Testosterone / blood


  • Testosterone