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

Melissa D Kahsar-Miller; Christa Nixon; Larry R Boots; Rodney C Go; Ricardo Azziz

doi:10.1016/s0015-0282(00)01662-9

Reproductive Endocrinology · Ovarian Hormones

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

Kahsar-Miller MD, Nixon C, Boots LR, Go RC, Azziz R

Published January 2001 Fertility and Sterility, 75(1), 53-58

DOI 10.1016/s0015-0282(00)01662-9 PMID 11163816

RRM Academy Synopsis

PMOS / PCOS affected 24% of mothers and 32% of sisters of patients

A family study found polyendocrine metabolic ovarian syndrome (PMOS), formerly polycystic ovary syndrome (PCOS), more often in 78 mothers and 50 sisters of 93 patients than in the general population. 24 out of 100 mothers and 32 out of 100 sisters were affected. An earlier survey of unselected reproductive-aged Alabama women found about 4 out of 100.

Key Findings

Of 78 mothers and 50 sisters examined, 19 mothers (24%) and 16 sisters (32%) had PMOS / PCOS: infrequent periods plus signs of excess androgen, after related disorders were excluded.
Among premenopausal relatives not taking hormones, 13 of 37 mothers (35%) and 14 of 35 sisters (40%) were affected.
Mothers and sisters combined, 27 of 72 untreated premenopausal relatives (38%) and 8 of 56 postmenopausal or treated relatives (14%) were affected, a statistically significant difference.
Premenopausal untreated mothers (13) and sisters (14) with PMOS / PCOS had higher mean total testosterone, free testosterone and DHEAS, an adrenal androgen, than 119 healthy controls.
The segregation ratio among 35 premenopausal untreated sisters was 0.40. The study could not tell whether this differed from the 0.50 expected for autosomal dominant or 0.25 for autosomal recessive inheritance.

Interpretation

This family study examined mothers and sisters of 93 patients with PMOS / PCOS at a university clinic in Alabama. The authors say the rates point to a major genetic component, with inheritance probably more complex than a single gene, similar to type 2 diabetes. The authors note that age and hormonal therapy may have hidden some cases among postmenopausal or treated relatives. The findings support larger studies into how PMOS / PCOS is inherited.

RRM Context

Restorative reproductive medicine looks for the cause of irregular or absent ovulation. A mother or sister with PMOS / PCOS belongs in that history. A 2026 international consensus renamed the syndrome for its endocrine and metabolic features. The family clustering adds a clue to a cause-based evaluation.

Our editorial summary of this paper, not the article's abstract.

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.

Patients

Patients with PCOS and their mothers and sisters.

Interventions

Interview, physical examination, and hormonal testing on blood samples were performed for all subjects.

Main Outcome Measures

The presence of hirsutism and hyperandrogenemia was determined in the mothers and sisters of the patients with PCOS.

Results

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.

Conclusions

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.

Topics

Reproductive Endocrinology › Ovarian Hormones › Androgens · Menstrual Cycle › Cycle Disorders › Ovulatory Disturbances · Genetics and Immunology › Reproductive Genetics › Carrier Screening

Melissa D Kahsar-Miller, Christa Nixon, Larry R Boots, Rodney C Go, Ricardo Azziz

M Kahsar-Miller, C Nixon, Lawrence Boots, Laurence Boots, L Boots, R Go, R Azziz

PMID 11163816 11163816 DOI 10.1016/s0015-0282(00)01662-9 10.1016/s0015-0282(00)01662-9 Kahsar-Miller et al. 2001, Kahsar-Miller 2001

Keywords

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

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

PMOS / PCOS affected 24% of mothers and 32% of sisters of patients

Key Findings

Interpretation

RRM Context

Abstract

Topics

By this author

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Keywords