Behavioral and physical masculinization are related to genotype in girls with congenital adrenal hyperplasia
Behavioral and physical masculinization are related to genotype in girls with congenital adrenal hyperplasia
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DOI：
10.1210/jc.2003-030696
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发表时间：
2004-01-01
影响因子：
5.8
通讯作者：
Clayton, PE
中科院分区：
文献类型：
--
作者：
Hall, CM;Jones, JA;Clayton, PE
患有先天性肾上腺增生症的女孩表现出行为男性化。关于产前和产后雄激素、社会因素和慢性疾病在其病因学中的作用存在争议，为了评估慢性疾病的影响，我们使用两份敏感的问卷，比较了曼彻斯特24名CAH女孩和25名3 - 12岁的糖尿病女孩的行为男性化，男性气质的总体得分为M为了评估产前和产后雄激素的作用，CAH受试者根据报告的CYP 21功能丧失的严重程度分为基因型组（G）：G1（n = 10，无效突变）、G2（n = 9，内含子2G）、G3（n = 3，I172 N）和G4（n = 2，未知功能丧失）。在CAH女孩中，评估了G、出生时生殖器男性化的Prader程度、骨龄提前和M之间的关系。CAH女孩的女性化程度低于糖尿病女孩，男性化程度高于糖尿病女孩（P < 0.001）。S.对照CAH组G1、G2组女性生殖器男性化程度高于G3、G4组（P < 0.009），M值高于G3、G4组（P < 0.025）。M与骨龄提前呈负相关（r =-0.5; P = 0.02）。CAH女孩表现出行为男性化，而糖尿病女孩则无此现象。身体和行为的男性化都与彼此和基因型相关，表明行为的男性化是产前雄激素暴露的结果。
Girls with congenital adrenal hyperplasia (CAH) exhibit behavioral masculinization. There is controversy about the roles of pre- and postnatal androgens, social factors, and chronic illness in its etiology.To assess the effect of chronic illness, we compared behavioral masculinity in 24 CAH girls and 25 diabetic girls aged 3 - 12 yr from Manchester using two sensitive questionnaires, and an overall masculinity score M (high = masculine) was derived.To assess the contributions of pre- and postnatal androgens, the CAH subjects were categorized into genotype groups ( G) according to the reported severity of loss of CYP21 function: G1 ( n = 10, null mutations), G2 ( n = 9, intron 2G), G3 ( n = 3, I172N), and G4 ( n = 2, unknown loss of function). In CAH girls, relationships between G, Prader degree of genital masculinization at birth, bone age advance, and M were assessed. CAH girls were less feminine and more masculine than diabetic girls ( P < 0.001), who were not significantly different from U. S. controls. Among the CAH girls, those in G1 and 2 were more genitally masculinized than those in G3 and 4 ( P < 0.009) and had higher M ( P < 0.025). M was negatively correlated with advanced bone age (r = - 0.5; P = 0.02).CAH girls, but not diabetic girls, demonstrated behavioral masculinization. Both physical and behavioral masculinization were related to each other and to genotype, indicating that behavioral masculinization is a consequence of prenatal androgen exposure.