title: Molecular analysis in true hermaphroditism: demonstration of low-level hidden mosaicism for Y-derived sequences in 46,XX cases.
abstract: True hermaphroditism (TH) is an unusual form of sex reversal, characterized by the development of testicular and ovarian tissue in the same subject. Approximately 60% of the patients have a 46,XX karyotype, 33% are mosaics with a second cell line containing a Y chromosome, while the remaining 7% are 46,XY. Molecular analyses have demonstrated that SRY is present in only 10% of TH with a 46,XX karyotype; therefore, in the remaining 90%, mutations at unknown X-linked or autosomal sex determining loci have been proposed as factors responsible for testicular development. True hermaphroditism presents considerable genetic heterogeneity with several molecular anomalies leading to the dual gonadal development as SRY point mutations or SRY hidden gonadal mosaicism. In order to identify genetic defects associated with subjects with the disease, we performed molecular analyses of the SRY gene in DNA from blood leukocytes and gonadal tissue in 12 true hermaphrodites with different karyotypes. Our results using PCR and FISH analyses reveal the presence of hidden mosaicism for SRY or other Y sequences in some patients with XX true hermaphroditism and confirms that mosaicism for SRY limited to the gonads is an alternative mechanism for testicular development in 46,XX true hermaphrodites.
authors.affiliation: Hospital General de México-Facultad de Medicina, UNAM, Dr. Balmis 148 Col. Doctores CP 06726, Mexico City, Mexico. skofman@servidor.unam.mx
authors.forename: Gloria
authors.initials: G
authors.lastname: Queipo
authors.forename: Juan C
authors.initials: JC
authors.lastname: Zenteno
authors.forename: Rocío
authors.initials: R
authors.lastname: Peña
authors.forename: Karen
authors.initials: K
authors.lastname: Nieto
authors.forename: Alejandro
authors.initials: A
authors.lastname: Radillo
authors.forename: Luis M
authors.initials: LM
authors.lastname: Dorantes
authors.forename: Luis
authors.initials: L
authors.lastname: Eraña
authors.forename: Esther
authors.initials: E
authors.lastname: Lieberman
authors.forename: Daniela
authors.initials: D
authors.lastname: Söderlund
authors.forename: Ana L
authors.initials: AL
authors.lastname: Jiménez
authors.forename: Guillermo
authors.initials: G
authors.lastname: Ramón
authors.forename: Susana
authors.initials: S
authors.lastname: Kofman-Alfaro
mesh_terms: D041322:Chromosomes, Human, Y / Q000235:genetics*; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D024282:Genes, sry; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008297:Male; D009030:Mosaicism; D016133:Polymerase Chain Reaction; D012733:Sex Differentiation / Q000235:genetics