携带Y染色体性别决定区的XX男性综合征

XX-male syndrome bearing the sex-determining region Y.

作者信息

Tomomasa H, Adachi Y, Iwabuchi M, Tohyama Y, Yotsukura M, Oshio S, Yazaki T, Umeda T, Takano T, Yamanouchi Y, Nakahori Y

机构信息

Department of Urology, Teikyo University School of Medicine, Tokyo, Japan.

出版信息

Arch Androl. 1999 Mar-Apr;42(2):89-96. doi: 10.1080/014850199262922.

DOI:10.1080/014850199262922

PMID:10101575

Abstract

The case of a 25-year-old man who presented for evaluation of infertility is described. The physical examination revealed testicular atrophy without gynecomastia. Repeated seminal analyses showed azoospermia, and serum hormonal levels suggested a state of a hypergonadotropic hypogonadism. Chromosomal analysis demonstrated 46XX. Polymerase chain reaction revealed the existence of a sex-determining region Y. The etiology of this rare sex reversal syndrome is discussed and cases reported in Japan are reviewed.

摘要

本文描述了一名25岁男性因不育前来评估的病例。体格检查发现睾丸萎缩但无男性乳房发育。多次精液分析显示无精子症，血清激素水平提示高促性腺激素性性腺功能减退状态。染色体分析显示为46XX。聚合酶链反应显示存在Y染色体性别决定区。本文讨论了这种罕见性反转综合征的病因，并回顾了日本报道的病例。