Azziz R, Kashar-Miller M D
Department of Obstetrics and Gynecology, The University of Alabama at Birmingham, 35249-7333, USA.
J Pediatr Endocrinol Metab. 2000;13 Suppl 5:1303-6.
We have prospectively studied, by interview, clinical examination and biochemical evaluation, the relatives of 195 consecutive PCOS patients in order to: 1) accurately determine the prevalence of PCOS, as defined by current endocrinological criteria, among first-degree relatives of affected patients, and 2) determine the overall accuracy of proband-only and family member (self report) interview for the detection of clinically evident PCOS within families. We noted that 35% of mothers and 40% of sisters of patients with PCOS will be affected by PCOS themselves. Overall, the interview using a standardized form, whether of the proband or the family relative directly, appears to be a reliable predictor of affected status in mothers. Alternatively, approximately 50% of sisters will be missed using the proband interview, although self-reporting appears to be a reasonably reliable predictor of affected status for these relatives. While we are unable to exclude an autosomal or X-linked dominant mode of inheritance, the heritability of PCOS is probably more complex, similar to that of diabetes mellitus type 2 and cardiovascular disease. In absence of molecular diagnostic markers, a positive family history appears to be the most informative risk factor for the development PCOS.
我们通过访谈、临床检查和生化评估，对连续195例多囊卵巢综合征（PCOS）患者的亲属进行了前瞻性研究，目的是：1）根据当前内分泌学标准，准确确定受影响患者一级亲属中PCOS的患病率；2）确定仅先证者访谈和家庭成员（自我报告）访谈在家庭中检测临床明显PCOS的总体准确性。我们注意到，PCOS患者的母亲中有35%、姐妹中有40%自身会受到PCOS影响。总体而言，使用标准化表格进行访谈，无论是对先证者还是直接对家族亲属进行访谈，似乎都是母亲患病状况的可靠预测指标。另外，通过先证者访谈会遗漏约50%的姐妹，不过自我报告似乎是这些亲属患病状况的合理可靠预测指标。虽然我们无法排除常染色体或X连锁显性遗传模式，但PCOS的遗传可能更复杂，类似于2型糖尿病和心血管疾病。在缺乏分子诊断标志物的情况下，阳性家族史似乎是PCOS发生最具信息量 的风险因素。
