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Fertil Steril. 2001 Jan;75(1):53-8.

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

Author information

1
Laboratory of Medical Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35233-7333, USA.

Abstract

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.

PMID:
11163816
[Indexed for MEDLINE]

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