title: 45,X/47,XXX/47,XX, del(Y)(p?)/46,XX mosaicism causing true hermaphroditism.
abstract: Sex differentiation in humans depends on the presence of the Y-linked gene SRY, which is activated in the pre-Sertoli cells of the developing gonadal primordium to trigger testicular differentiation. Occasionally testicular formation can take place in subjects lacking a Y chromosome resulting in a 46,XX sex reversal condition. True hermaphroditism (TH) is a rare form of intersexuality characterized by the presence of testicular and ovarian tissue in the same individual. Genetic heterogeneity has been proposed as a cause of dual gonadal development in some cases and recently, hidden mosaicism was reported to cause TH in some 46,XX SRY negative patients. Here we report a TH case in which hidden mosaicism for the Y and X chromosome was detected by PCR and FISH in peripheral blood and gonadal tissue, supporting the fact that mosaicism may cause TH and that molecular analysis of gonadal tissue should be performed in all 46,XX cases.
authors.affiliation: Department of Genetics, Hospital General de Mexico-Facultad de Medicina, UNAM, Mexico City, Mexico.
authors.forename: Karem
authors.initials: K
authors.lastname: Nieto
authors.forename: Rocío
authors.initials: R
authors.lastname: Peña
authors.forename: Icela
authors.initials: I
authors.lastname: Palma
authors.forename: Luis M
authors.initials: LM
authors.lastname: Dorantes
authors.forename: Luis
authors.initials: L
authors.lastname: Eraña
authors.forename: Rebeca
authors.initials: R
authors.lastname: Alvarez
authors.forename: Ricardo
authors.initials: R
authors.lastname: García-Cavazos
authors.forename: Susana
authors.initials: S
authors.lastname: Kofman-Alfaro
authors.forename: Gloria
authors.initials: G
authors.lastname: Queipo
mesh_terms: D002648:Child; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X / Q000235:genetics*; D041322:Chromosomes, Human, Y / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D024282:Genes, sry / Q000235:genetics; D005836:Genitalia, Female / Q000002:abnormalities / Q000601:surgery; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D009030:Mosaicism; D012729:Sex Chromosome Aberrations; D013737:Testis / Q000002:abnormalities / Q000601:surgery