TESTICULAR DYSGENESIS AND MENTAL-RETARDATION IN 2 INCOMPLETELY MASCULINIZED XY-SIBLINGS

被引：2

作者：

SCHIPPER, JA ^{[1
]}

DELEMARREVANDERWAAL, HA ^{[1
]}

JANSEN, M ^{[1
]}

SPRANGERS, MAJ ^{[1
]}

机构：

[1] FREE UNIV AMSTERDAM HOSP,DEPT PAEDIAT,AMSTERDAM,NETHERLANDS

来源：

ACTA PAEDIATRICA SCANDINAVICA | 1991年 / 80卷 / 01期

关键词：

TESTOSTERONE; STEROIDS; MALE PSEUDOHERMAPHRODITISM; HCG AND ACTH STIMULATION; GONADAL DYSGENESIS; MENTAL RETARDATION;

D O I：

10.1111/j.1651-2227.1991.tb11745.x

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Aberrations of fetal sexual development were studied in two retarded phenotypic female 46, XY dysgonadal sisters from a consanguineous marriage. Endocrine evaluation revealed an inadequate response of plasma-testosterone to human chorionic gonadotropin (hCG) stimulation and a normal response to adrenocorticotropic hormone (ACTH) administration. At exploratory laparotomy dysgenetic testes and remnants of the Mullerian and of the Wolffian duct were found. Loss of testicular function, resulting in male pseudohermaphroditism (MPH), can occur at different times during intrauterine development, resulting in a variety of clinical manifestations. A thorough evaluation is warranted in all patients in order to reach a correct diagnosis which is of importance for appropriate gender assignment and genetic counseling.

引用

页码：125 / 128

页数：4

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