Open AccessSRY-negative 45,X/46,XY adult male with complete masculinization and infertility: A case report and review of literature
Author(s) -
Yanhua Wu,
Kai Sun,
Hui Bao,
Yingjian Chen
Publication year - 2020
Publication title -
world journal of clinical cases
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.368
H-Index - 10
ISSN - 2307-8960
DOI - 10.12998/wjcc.v8.i24.6380
Subject(s) - testis determining factor , medicine , infertility , male infertility , gynecology , andrology , y chromosome , genetics , pregnancy , gene , biology
45,X/46,XY mosaicism is a rare chromosomal abnormality with a wide range of phenotypes in both males and females, from normal individuals with different degrees of genital ambiguity to those who show signs of Turner's syndrome. More rarely, cases of 45,X/46,XY mosaicism with a normal-appearing male phenotype are not found until a chromosome test is performed to investigate the cause of male infertility.