title: 46, XX man with SRY gene translocation: cytogenetic characteristics, clinical features and management.
abstract: 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.
authors.affiliation: 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
authors.forename: Ali A
authors.initials: AA
authors.lastname: Rizvi
mesh_terms: 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
chemical_list: C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein