The effectiveness of the interview for predicting the presence of polycystic ovary syndrome.

Polycystic ovary syndrome (PCOS), a leading cause of female infertility, occurs in approximately 4% of women of reproductive age. Multifamily studies have established that PCOS has strong inherited traits. Although diagnosis of PCOS in the relatives of affected women can readily be made by clinical and biochemical evaluations, these methods are costly and laborious. The aim of this investigation was to determine whether clinically evident PCOS could be detected by a written questionnaire, which is a significantly less expensive means of detection than direct determination. A questionnaire about the history of possible androgenic symptoms of PCOS was presented to patients and their first-degree female relatives, who were also evaluated by physical and laboratory examinations. The sensitivity, specificity, and positive predictive value (PPV) and negative predictive value (NPV) for the detection of PCOS by interview were calculated. The NPV of the proband interview was significantly lower for sisters than for mothers (82% vs. 100%, respectively; p < 0.05). When the family member completed the written questionnaire directly, the specificity and NPV of self-reporting were equally high (> 90%) for both mothers and sisters. Thus direct interviewing of PCOS patients or their mothers and sisters reliably predicts affected status, but patient interview alone will not predict PCOS in almost 50% of the affected sisters.

Steroidogenic acute regulatory protein (StAR) in the ovaries of healthy women and those with polycystic ovary syndrome.

OBJECTIVE: Polycystic ovary syndrome is the most common cause of oligo-ovulation, affecting approximately 4% of women. A primary defect of steroidogenesis resulting in increased ovarian and adrenal androgen production may be responsible for polycystic ovary syndrome, at least in some patients. Because the action of the steroidogenic acute regulatory protein (StAR) initiates the process of steroidogenesis, we proceeded to test the hypothesis that increased production or concentration of StAR may result in the abnormality of steroidogenesis found in polycystic ovary syndrome. STUDY DESIGN: We examined the ovaries from 10 healthy women and 7 women with polycystic ovary syndrome, determining the relative concentration of StAR in total protein extracts by use of Western blotting, and the overall distribution and staining intensity of StAR in prepared tissue sections. RESULTS: Overall the ovaries of healthy women and women with polycystic ovary syndrome demonstrated a similar prevalence and size of follicular cysts, although the ovaries of women with polycystic ovary syndrome had a greater mean number of follicular cysts. In general, the distribution of StAR immunoreactivity within most of the ovarian structures was not different in the ovaries of women with polycystic ovary syndrome compared to those of the healthy ovaries. However, the ovaries from the cases demonstrated a significantly greater number of follicular cysts with staining for StAR immunoreactivity in the thecal cells than did the ovaries from healthy women (100% vs 38%, P <.05). CONCLUSION: These data suggest that the exaggeration in androgen biosynthesis in the ovaries of patients with polycystic ovary syndrome may be occurring at its earliest step (ie, that involving StAR), such that an increased amount of cholesterol is made available for androgen biosynthesis in the polycystic ovary.

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. 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.