46, XX man with SRY gene translocation: cytogenetic characteristics, clinical features and management.
This report describes a well-masculinized 33-year-old man with infertility and primary hypogonadism in whom chromosomal evaluation revealed a 46, XX karyotype. This syndrome is a rare but important cause of hypergonadotropic hypogonadism in which the diagnosis can be delayed or missed. A review of the cytogenetic basis and clinical features is presented to raise awareness of this entity among clinicians and to emphasize the importance of appropriate laboratory testing when indicated.
Rizvi
Ali A
AA
Division of Endocrinology, Diabetes and Metabolism, University of South Carolina School of Medicine, Two Medical Park, Suite 502, Columbia, SC 29203, USA. arizvi@gw.mp.sc.edu
D000328:Adult; D041321:Chromosomes, Human, X; D023961:Gonadal Dysgenesis, 46,XX / Q000235:genetics* / Q000628:therapy; D006801:Humans; D008297:Male; D051876:Sex-Determining Region Y Protein; D014178:Translocation, Genetic
C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein