Purpose

The study aimed to investigate whether repeat number in the androgen receptor (AR) gene has any contribution to phenotypes of the disease of androgen excess (polycystic ovary syndrome (PCOS), idiopathic hyperandrogenemia (IHA) and idiopathic hirsutism (IH) in a cohort of Turkish women.

Methods

Three hundred and fifty-four voluntary premenopausal women (172 healthy controls and 182 patients with androgen excess disorders and idiopathic hirsutism) 18–45 years of age seen at an outpatient endocrine clinic at Erciyes University Hospital between January 2013 and December 2014 were included. All volunteers have undergone physical examination and biochemical evaluation. The polymorphic (CAG)n repeat of the human AR was determined by fragment analyses.

Results

Detailed clinical analyses of the patients ended up with 137 PCOS, 24 IHA, and 21 IH. Pairwise comparisons revealed the CAG repeat number differences between the PCOS and controls (p = 0.005) and IH and controls (p = 0.020). Women with CAG repeat length ≤ 17 had a significantly increased twofold risk for PCOS than those women with > 17 CAG repeats OR: 2.0 (95% CI 1.2–3.3, p = 0.005). Women with CAG repeat length ≤ 17 had a significantly increased threefold risk for IH than those women with > 17 CAG repeats OR: 2.9 (95% CI 1.2–7.3, p = 0.020). When correlation analysis was performed, a weak negative correlation was detected between the short allele and FGS score (r = − 0.131, p = 0.013) and a positive relationship between total testosterone and longer allele in the IHA group (r = 0.425, p = 0.039). Median repeat length of the shorter allele between oligomenorrhea and woman with normal menstrual cycle was found to be statistically significant (p = 0.017).

Conclusion

This study indicated that the risk of PCOS and IH is associated with the inheritance of ARs with shorter CAG repeats.

中文翻译：

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雄激素受体CAG重复多态性在雄激素过多症和特发性多毛症中的作用。

目的

这项研究旨在调查雄激素受体（AR）基因中的重复数是否对雄激素过多疾病（多囊卵巢综合征（PCOS），特发性高雄激素血症（IHA）和特发性多毛症（IH））的表型有任何贡献土耳其妇女。

方法

纳入了2013年1月至2014年12月间在Erciyes大学医院的内分泌门诊就诊的154名自愿绝经前妇女（172名健康对照者和182名雄激素过多失调和特发性多毛症患者），年龄18-45岁。所有志愿者都经过了身体检查和生化评估。人类AR的多态性（CAG）n重复通过片段分析确定。

结果

对患者进行的详细临床分析最终得到137 PCOS，24 IHA和21 IH。配对比较显示PCOS与对照（p  = 0.005）和IH与对照（p  = 0.020）之间的CAG重复数差异。CAG重复长度≤17的女性患PCOS的风险比那些具有> 17 CAG重复的女性显着增加，或：2.0（95％CI 1.2–3.3，p  = 0.005）。CAG重复长度≤17的女性患IH的风险比具有> 17 CAG重复的女性显着增加三倍，或：2.9（95％CI 1.2–7.3，p  = 0.020）。当进行相关分析时，在短等位基因和FGS评分之间检测到弱的负相关（r  = − 0.131，p IHA组中总睾丸激素与更长的等位基因之间呈正相关（r = 0.425，p  = 0.039）。发现经期少和月经周期正常的女性之间较短等位基因的重复长度中位数具有统计学意义（p  = 0.017）。

结论

这项研究表明，PCOS和IH的风险与具有较短CAG重复的AR的遗传有关。