BACKGROUND Polycystic ovary syndrome (PCOS) may be programmed in utero by androgen excess. Our aim was to examine the role of the sex hormone-binding globulin (SHBG) and androgen receptor (AR) gene polymorphisms, in the phenotypic expression of PCOS. METHODS A cohort of 180 women with PCOS and 168 healthy women of reproductive age were investigated. BMI was recorded and the hormonal profile was determined on Day 3-5 of menstrual cycle. DNA was extracted from peripheral blood leucocytes and the SHBG(TAAAA)n and AR(CAG)n polymorphisms were genotyped by PCR. RESULTS Genotype analysis revealed six SHBG(TAAAA)n alleles with 6-11 repeats and 19 AR(CAG)n alleles with 6-32 repeats, present in both PCOS and control women. Long SHBG(TAAAA)n alleles (>8 repeats) were at greater frequency in PCOS than normal women (P = 0.001), whereas short AR(CAG)n alleles (</=20 repeats) tended to be more frequent in PCOS women than controls. When categorized into subgroups, PCOS women also tended to have at greater frequency the combination of long SHBG-short AR alleles (8.3%) than normal women (6.5%). Furthermore, PCOS women with combined long SHBG-short AR alleles had significantly lower serum SHBG levels (P = 0.001) and higher serum androgens (P = 0.03) compared with those with other genotype combinations. This difference was independent of BMI or insulin resistance. CONCLUSIONS The presence of long SHBG(TAAAA)n alleles is associated with increased risk for PCOS and in combination with short AR(CAG)n alleles may influence the hyperandrogenic phenotype of PCOS. This combined genotype may contribute to 'fetal programming' of PCOS.

背景 多囊卵巢综合征（PCOS)的发生与雄激素过多密切相关。 目的 研究性激素结合球蛋白（SHBG)和雄激素受体（AR）基因多态性在PCOS中的表型表达。 方法 研究对象为180名PCOS患者和168名健康生育年龄的女性。体重指数（BMI）已记录，自月经周期3-5天测定体内激素水平。PCR测定外周血白细胞.SHBG和AR多态现象基因型的DNA。 结果 基因分析显示：在PCOS患者和健康对照者中有6个SHBG等位基因有6-11个重复，19个AR等位基因有6-32个重复。长SHBG等位基因(重复>8）（P=0.001）和短的AR等位基因（重复<=20)在PCOS患者中更常见。亚型分类显示，PCOS患者中长SHBG和短AR等位基因的结合率（8.3%）高于对照组(6.5%)。而且，与其他基因型相比：在有长SHBG和短AR等位基因结合的PCOS患者有较低的血清SHBG水平（P=0.001）和高雄激素（P=0.03）。此差异与BMI或胰岛素抵抗无关。 结论 长SHBG等位基因使患PCOS的风险增加，而长SHBG等位基因与短AR等位基因的结合可能与PCOS患者雄激素过多症有关。这种基因型的结合可能与PCOS的"胎儿程序"有关。