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


METHODS
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.


METHODS
Tertiary care university.


METHODS
Patients with PCOS and their mothers and sisters.


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


METHODS
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.
Kahsar-Miller
M D
MD
Laboratory of Medical Genetics, University of Alabama at Birmingham, Birmingham, Alabama 35233-7333, USA.
Nixon
C
C
Boots
L R
LR
Go
R C
RC
Azziz
R
R
D000293:Adolescent; D000328:Adult; D005260:Female; D006628:Hirsutism / Q000453:epidemiology / Q000209:etiology; D006801:Humans; D017588:Hyperandrogenism / Q000453:epidemiology / Q000209:etiology; D008875:Middle Aged; D009839:Oligomenorrhea / Q000453:epidemiology / Q000209:etiology; D011085:Polycystic Ovary Syndrome / Q000150:complications / Q000453:epidemiology* / Q000235:genetics*; D011446:Prospective Studies; D013739:Testosterone / Q000097:blood
D013739:Testosterone