A CASE OF PSEUDOVAGINAL, PERINEOSCROTAL HYPOSPADIA WITH 5-ALPHA-REDUCTASE DEFICIENCY

被引：4

作者：

WIEACKER, P ^{[1
]}

FLECKEN, U ^{[1
]}

BRECKWOLDT, M ^{[1
]}

机构：

[1] UNIV FREIBURG, W-7800 FREIBURG, GERMANY

来源：

GEBURTSHILFE UND FRAUENHEILKUNDE | 1992年 / 52卷 / 02期

关键词：

D O I：

10.1055/s-2007-1022968

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

A case of pseudovaginal perineoscrotal hypospadia (PPSH) is presented. This autosomal recessive disorder, also termed incomplete male pseudohermaphroditism type 2, is mostly caused by a deficiency of 5-alpha-reductase, which controls the conversion of testosterone to 5-alpha-dihydrotestosterone. In genital skin fibroblasts, the activity of the 5-alpha-reductase was strongly reduced, compared with a normal male. The 5-alpha-reductase activity in nongenital skin fibroblasts, however, was in the range of the normal male control. For complete diagnostic evaluation of PPSH 5-alpha-reductase activity it should be determined simultaneously in genital and non genital skin fibroblasts. The conversion of T to DHT in genital skin fibroblasts of a patient with testicular feminisation (Tfm) was found to be of the same order of magnitude as in PPSH. This suggests, that the expression of 5-alpha-reductase is androgen-dependent.

引用

页码：126 / 128

页数：3

共 4 条

[1] HORMONAL EVALUATION OF A LARGE KINDRED WITH COMPLETE ANDROGEN INSENSITIVITY - EVIDENCE FOR SECONDARY 5-ALPHA-REDUCTASE DEFICIENCY [J].