title: 46,XX male disorder of sexual development:a case report.
abstract: The main factor influencing sex determination of an embryo is the sex-determining region Y (SRY), a master regulatory gene located on the Y chromosome. The presence of SRY causes the bipotential gonad to differentiate into a testis. However, some individuals carry a Y chromosome but are phenotypically female (46,XY females) or have a female karyotype but are phenotypically male (46,XX males). 46, XX male is rare (1:20 000 in newborn males), and SRY positivity is responsible for this condition in approximately 90% of these subjects. External genitalia of 46,XX SRY-positive males appear as normal male external genitalia, and such cases are diagnosed when they present with small testes and/or infertility after puberty. Herein, we report an adolescent who presented with low testicular volume and who was diagnosed as a 46,XX male. SRY positivity was demonstrated in the patient by fluorescence in situ hybridization method.
authors.affiliation: Dokuz Eylül University Faculty of Medicine, Department of Pediatric Endocrinology, İzmir, Turkey. E-mail: ahmet.anik@yahoo.com.
authors.forename: Ahmet
authors.initials: A
authors.lastname: Anık
authors.forename: Gönül
authors.initials: G
authors.lastname: Çatlı
authors.forename: Ayhan
authors.initials: A
authors.lastname: Abacı
authors.forename: Ece
authors.initials: E
authors.lastname: Böber
mesh_terms: D058489:46, XX Disorders of Sex Development / Q000175:diagnosis* / Q000235:genetics*; D000293:Adolescent; D041321:Chromosomes, Human, X / Q000235:genetics; D024282:Genes, sry / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D059785:Karyotype; D007621:Karyotyping; D008297:Male; D009929:Organ Size / Q000235:genetics; D013737:Testis / Q000378:metabolism / Q000473:pathology; D014178:Translocation, Genetic