XX-male syndrome bearing the sex-determining region Y.
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.
Tomomasa
H
H
Department of Urology, Teikyo University School of Medicine, Tokyo, Japan. tomomasa@med.teikyo-u.ac.jp
Adachi
Y
Y
Iwabuchi
M
M
Tohyama
Y
Y
Yotsukura
M
M
Oshio
S
S
Yazaki
T
T
Umeda
T
T
Takano
T
T
Yamanouchi
Y
Y
Nakahori
Y
Y
D000328:Adult; D004268:DNA-Binding Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D009687:Nuclear Proteins; D012729:Sex Chromosome Aberrations / Q000235:genetics* / Q000503:physiopathology; D019849:Sex Determination Processes; D051876:Sex-Determining Region Y Protein; D013577:Syndrome; D014157:Transcription Factors
D004268:DNA-Binding Proteins; D009687:Nuclear Proteins; D051876:Sex-Determining Region Y Protein; D014157:Transcription Factors