Report of an XX male with hypospadias and pubertal gynecomastia, SRY gene negative in blood leukocytes but SRY gene positive in testicular cells

被引：11
|
作者：
Dardis, A
Saraco, N
Mendilaharzu, H
Rivarola, M
Belgorosky, A
机构：
[1] HOSP PEDIAT GARRAHAN,LAB INVEST,LAB RES UNIT,BUENOS AIRES,DF,ARGENTINA
[2] HOSP PEDIAT GARRAHAN,ENDOCRINE SERV,BUENOS AIRES,DF,ARGENTINA
来源：
HORMONE RESEARCH | 1997年 / 47卷 / 02期
关键词：
XX male; SRY mosaicism; primary hypogonadism; testicular differentiation;
D O I：
10.1159/000185438
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Most XX male subjects present an anomalous translocation of the sex-determining region of the chromosome Y (SRY) gene from chromosome Y to chromosome X. Several explanations have been proposed for the differentiation of testicular tissue in the absence of the SRY gene. A patient is presented in whom the SRY gene was absent in peripheral leukocytes but present in testicular tissue. This possibility should always be ruled out before diagnosing Y-negative XX maleness.
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页码：85 / 88
页数：4
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