The role of androgens in fetal growth: observational study in two genetic models of disordered androgen signalling
The role of androgens in fetal growth: observational study in two genetic models of disordered androgen signalling
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DOI：
10.1136/adc.2009.173575
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发表时间：
2010-11-01
影响因子：
4.4
通讯作者：
Hughes, Ieuan A.
中科院分区：
文献类型：
--
作者：
Miles, Harriet L.;Gidlof, Sebastian;Hughes, Ieuan A.
目的探讨雄激素对雄激素信号改变的遗传模型中出生体重的影响，以剑桥性发育障碍（DSD）数据库和瑞典国家先天性肾上腺皮质增生症（CAH）筛查项目为研究对象，研究对象为：（1）29例XY染色体核型突变阳性的完全雄激素不敏感综合征（CAIS）女孩;（2）43名女孩和30名男孩的基因型证实为CAH。结果CAIS XY组新生儿平均出生体重SDS评分高于国内参考值（P < 0. 05），女孩平均出生体重SDS评分高于国内参考值（P < 0. 05（平均值，95% CI：0.4，0.1至0.7; p=0.02），与男孩的国家参考值相似（0.1，-0.2至0.4）。CAN女孩的出生体重SDS与女孩的国家参考值相似（0.0，-0.2至0.2），并且不随基因突变的严重程度而变化。CAH患儿的出生体重SDS也与全国参考值相近（0.2，-0.2 ~ 0.6）。结论CAIS XY患儿的出生体重分布与正常男婴相似，CAN患儿的出生体重不增加。雄激素信号的改变对出生体重的影响很小。出生大小的性别二态性与产前雄激素暴露无关。
Objective To examine the role of androgens on birth weight in genetic models of altered androgen signalling.Setting Cambridge Disorders of Sex Development (DSD) database and the Swedish national screening programme for congenital adrenal hyperplasia (CAH).Patients (1) 29 girls with XY karyotype and mutation positive complete androgen insensitivity syndrome (CAIS); (2) 43 girls and 30 boys with genotype confirmed CAH.Main outcome measures Birth weight, birth weight-for-gestational-age (birth weight standard deviation score (SDS)) calculated by comparison with national references.Results Mean birth weight SDS in CAIS XY infants was higher than the reference for girls (mean, 95% CI: 0.4, 0.1 to 0.7; p=0.02) and was similar to the national reference for boys (0.1, -0.2 to 0.4). Birth weight SDS in CAN girls was similar to the national reference for girls (0.0, -0.2 to 0.2) and did not vary by severity of gene mutation. Birth weight SDS in CAH boys was also similar to the national reference for boys (0.2, -0.2 to 0.6).Conclusion CAIS XY infants have a birth weight distribution similar to normal male infants and birth weight is not increased in infants with CAN. Alterations in androgen signalling have little impact on birth weight. Sex dimorphism in birth size is unrelated to prenatal androgen exposure.