title: 46,XX male - testicular disorder of sexual differentiation (DSD): hormonal, molecular and cytogenetic studies.
abstract: The XX male syndrome - Testicular Disorder of Sexual Differentiation (DSD) is a rare condition characterized by a spectrum of clinical presentations, ranging from ambiguous to normal male genitalia. We report hormonal, molecular and cytogenetic evaluations of a boy presenting with this syndrome. Examination of the genitalia at age of 16 months, showed: penis of 3.5 cm, proximal hypospadia and scrotal testes. Pelvic ultrasound did not demonstrate Mullerian duct structures. Karyotype was 46,XX. Gonadotrophin stimulation test yielded insufficient testosterone production. Gonadal biopsy showed seminiferous tubules without evidence of Leydig cells. Molecular studies revealed that SRY and TSPY genes and also DYZ3 sequences were absent. In addition, the lack of deletions or duplications of SOX9, NR5A1, WNT4 and NROB1 regions was verified. The infant was heterozygous for all microsatellites at the 9p region, including DMRT1 gene, investigated. Only 10% of the patients are SRY-negative and usually they have ambiguous genitalia, as the aforementioned patient. The incomplete masculinization suggests gain of function mutation in one or more genes downstream to SRY gene.
authors.affiliation: Pediatric Endocrinology Service, Hospital Universitário Professor Edgard Santos, Faculty of Medicine, Universidade Federal da Bahia, Salvador, BA, Brazil. cresio.alves@uol.com.br
authors.forename: Cresio
authors.initials: C
authors.lastname: Alves
authors.forename: Zilda
authors.initials: Z
authors.lastname: Braid
authors.forename: Fernanda Borchers
authors.initials: FB
authors.lastname: Coeli
authors.forename: Maricilda Palandi de
authors.initials: MP
authors.lastname: Mello
mesh_terms: D058531:46, XX Testicular Disorders of Sex Development / Q000097:blood* / Q000235:genetics*; D006063:Chorionic Gonadotropin; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics; D024282:Genes, sry / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D013739:Testosterone / Q000097:blood; D014157:Transcription Factors / Q000235:genetics
chemical_list: D006063:Chorionic Gonadotropin; C110547:DMRT1 protein; D014157:Transcription Factors; D013739:Testosterone