Molecular analysis in true hermaphroditism: Demonstration of low-level hidden mosaicism for Y-derived sequence in 46,XX cases
Por:
Queipo G., Zenteno J.C., Peña R., Nieto K., Radillo A., Dorantes L.M., Eraña L., Lieberman E., Söderlund D., Jiménez A.L., Ramón G., Kofman-Alfaro S.
Publicada:
1 ene 2002
Resumen:
True hermaphroditism (TH) is an unusual from 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 cel 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. © Springer-Verlag 2002.
Filiaciones:
Queipo G.:
Hospital General de México, Facultad de Medicina, UNAM, Dr. Balmis 148 Col., Doctores CP 06726, Mexico City, Mexico
Zenteno J.C.:
Hospital General de México, Facultad de Medicina, UNAM, Dr. Balmis 148 Col., Doctores CP 06726, Mexico City, Mexico
Peña R.:
Dept. of Pathol. and Endocrinol., Hospital Infantil Federico Gomez, Mexico City, Mexico
Nieto K.:
Hospital General de México, Facultad de Medicina, UNAM, Dr. Balmis 148 Col., Doctores CP 06726, Mexico City, Mexico
Radillo A.:
Hospital General de México, Facultad de Medicina, UNAM, Dr. Balmis 148 Col., Doctores CP 06726, Mexico City, Mexico
Dorantes L.M.:
Dept. of Pathol. and Endocrinol., Hospital Infantil Federico Gomez, Mexico City, Mexico
Eraña L.:
Dept. of Pathol. and Endocrinol., Hospital Infantil Federico Gomez, Mexico City, Mexico
Lieberman E.:
Dept. of Research in Human Genetics, Insituto Nacional de Pediatria, Mexico City, Mexico
Söderlund D.:
Unidad Invest. Med. Biol. Desarrollo, Hospital de Pediatriá, Ctro. Medico Nacional Siglo XXI IMSS, Mexico City, Mexico
Jiménez A.L.:
Hospital General de México, Facultad de Medicina, UNAM, Dr. Balmis 148 Col., Doctores CP 06726, Mexico City, Mexico
Ramón G.:
Unidad Invest. Med. Biol. Desarrollo, Hospital de Pediatriá, Ctro. Medico Nacional Siglo XXI IMSS, Mexico City, Mexico
Kofman-Alfaro S.:
Hospital General de México, Facultad de Medicina, UNAM, Dr. Balmis 148 Col., Doctores CP 06726, Mexico City, Mexico
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