47,XYY基因型中的生殖器畸形。
Malformed genitalia in the 47,XYY genotype.
作者信息
Rivera H, Hernandez A, Martinez y Martinez R, Plascencia L, Cuevas A, Cantu J M
出版信息
Ann Genet. 1979;22(4):225-7.
PMID:317786
Abstract
A 5 10/12 year-old boy with a 47,XYY karyotype, micropenis, scrotal hypospadias and right testicular regression is described. Normal for age basal plasma testosterone levels which increased after hCG stimulation were interpreted as an adequate response of the left testicular Leydig cells. The review of similar cases did not permit definite conclusions concerning the relationship between the abnormal genitalia and the XYY karyotype.
摘要
本文描述了一名5又10/12岁男孩，其核型为47,XYY，患有小阴茎、阴囊型尿道下裂和右侧睾丸缺如。其基础血浆睾酮水平在年龄上属正常，经人绒毛膜促性腺激素（hCG）刺激后升高，这被解释为左侧睾丸间质细胞的充分反应。对类似病例的回顾未能就生殖器异常与XYY核型之间的关系得出明确结论。
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