Evans B A, Williams D M, Hughes I A
Department of Child Health, University of Wales College of Medicine, Cardiff.
Arch Dis Child. 1991 Sep;66(9):1033-6. doi: 10.1136/adc.66.9.1033.
To try and find out if a defect in androgen biosynthesis or action could be responsible for the incomplete virilisation seen in boys with isolated hypospadias and isolated micropenis, androgen receptor binding was studied in genital skin fibroblasts established from 18 boys with isolated micropenis and 19 boys with isolated hypospadias. The production of gonadotrophins and testosterone was also measured in the boys with micropenis. There was no evidence of gonadotrophin deficiency, or of a defect in testosterone biosynthesis in the boys with micropenis, and there was no evidence of a quantitative or qualitative defect of androgen binding in either group. These isolated abnormalities may be the result of transient defects in androgen synthesis or action, or both, during a critical phase of embryogenesis.
为了试图弄清楚雄激素生物合成或作用缺陷是否可能是导致孤立性尿道下裂和孤立性小阴茎男孩出现不完全男性化的原因,对从18例孤立性小阴茎男孩和19例孤立性尿道下裂男孩获取的生殖器皮肤成纤维细胞中的雄激素受体结合情况进行了研究。还对小阴茎男孩的促性腺激素和睾酮生成情况进行了测定。在小阴茎男孩中没有促性腺激素缺乏或睾酮生物合成缺陷的证据,且两组中均没有雄激素结合定量或定性缺陷的证据。这些孤立的异常情况可能是胚胎发育关键阶段雄激素合成或作用或两者的短暂缺陷所致。