Md. Kahsar-miller et al., Prevalence of polycystic ovary syndrome (PCOS) in first-degree relatives of patients with PCOS, FERT STERIL, 75(1), 2001, pp. 53-58
Objective: To determine the rate of clinically evident polycystic ovary syn
drome (PCOS) among first-degree female relatives within families with a pro
band affected by PCOS.
Design: Clinical and biochemical evaluation of the mothers and sisters of 9
3 patients with PCOS. The diagnosis of PCOS was established by: [1] a histo
ry of oligomenorrhea, [2] clinical evidence (i.e., hirsutism) or biochemica
l evidence (i.e., elevated total or free T) of hyperandrogenism, and [3] th
e 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 b
lood samples were performed for all subjects.
Main Outcome Measure(s): The presence of hirsutism and hyperandrogenemia wa
s 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 w
as observed when only premenopausal women not taking hormones (i.e., untrea
ted) were considered (i.e., 35% of mothers and 40% of sisters), consistent
with amelioration of symptoms with hormonal therapy or aging. These rates o
f PCOS are significantly higher than that observed in our general populatio
n (approximately 4%) and suggest the involvement of a major genetic compone
nt in the disorder.
Conclusion(s): The rates of PCOS in mothers and sisters of patients with PC
OS were 24% and 32%, respectively, although the risk was higher when consid
ering unheated premenopausal women only. (C) 2001 by American Society for R
eproductive Medicine.