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Paciente masculino con cariotipo 46 XX negativo para el gen SRY y sin ambigüedad genital: reporte de un caso

In most cases, male sexual differentiation occurs with SRY gene mediation. However, exceptional genotypes have been identified, as shown in this paper. This was a male adult patient seen at the Servicio de Paternidades, Instituto de Genética, Universidad Nacional de Colombia. The following procedure...

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Autores principales: Casas-Vargas, Andrea, Galvis, Johanna, Blanco, Jenny, Rengifo, Laura, Usaquén, William, Velasco, Harvy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Instituto Nacional de Salud 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7363349/
https://www.ncbi.nlm.nih.gov/pubmed/31860174
http://dx.doi.org/10.7705/biomedica.4687
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author Casas-Vargas, Andrea
Galvis, Johanna
Blanco, Jenny
Rengifo, Laura
Usaquén, William
Velasco, Harvy
author_facet Casas-Vargas, Andrea
Galvis, Johanna
Blanco, Jenny
Rengifo, Laura
Usaquén, William
Velasco, Harvy
author_sort Casas-Vargas, Andrea
collection PubMed
description In most cases, male sexual differentiation occurs with SRY gene mediation. However, exceptional genotypes have been identified, as shown in this paper. This was a male adult patient seen at the Servicio de Paternidades, Instituto de Genética, Universidad Nacional de Colombia. The following procedures were carried out: Amelogenin gene and short tandem repeat analyses using human identification commercial kits, conventional karyotype, SRY fluorescent in situ hybridization, PCR analysis for Y chromosome microdeletions, clinical evaluation, and genetic counseling. We present an adult male with unambiguous genitalia, karyotype 46,XX, and an SRY negative and ZFY positive molecular profile. The diagnosis of nonsyndromic 46,XX testicular disorder of sex development (DSD) -a rare genetic condition- was established. Only 20 % of similarly diagnosed patients are SRY negative and exhibit diverse molecular profiles. Until now, available evidence seems to indicate that, even in the absence of SRY, the ZFY factor is involved in male sexual differentiation.
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spelling pubmed-73633492020-07-20 Paciente masculino con cariotipo 46 XX negativo para el gen SRY y sin ambigüedad genital: reporte de un caso Casas-Vargas, Andrea Galvis, Johanna Blanco, Jenny Rengifo, Laura Usaquén, William Velasco, Harvy Biomedica Presentación De Caso In most cases, male sexual differentiation occurs with SRY gene mediation. However, exceptional genotypes have been identified, as shown in this paper. This was a male adult patient seen at the Servicio de Paternidades, Instituto de Genética, Universidad Nacional de Colombia. The following procedures were carried out: Amelogenin gene and short tandem repeat analyses using human identification commercial kits, conventional karyotype, SRY fluorescent in situ hybridization, PCR analysis for Y chromosome microdeletions, clinical evaluation, and genetic counseling. We present an adult male with unambiguous genitalia, karyotype 46,XX, and an SRY negative and ZFY positive molecular profile. The diagnosis of nonsyndromic 46,XX testicular disorder of sex development (DSD) -a rare genetic condition- was established. Only 20 % of similarly diagnosed patients are SRY negative and exhibit diverse molecular profiles. Until now, available evidence seems to indicate that, even in the absence of SRY, the ZFY factor is involved in male sexual differentiation. Instituto Nacional de Salud 2019-12-30 /pmc/articles/PMC7363349/ /pubmed/31860174 http://dx.doi.org/10.7705/biomedica.4687 Text en https://creativecommons.org/licenses/by/4.0/ Este es un artículo publicado en acceso abierto bajo una licencia Creative Commons
spellingShingle Presentación De Caso
Casas-Vargas, Andrea
Galvis, Johanna
Blanco, Jenny
Rengifo, Laura
Usaquén, William
Velasco, Harvy
Paciente masculino con cariotipo 46 XX negativo para el gen SRY y sin ambigüedad genital: reporte de un caso
title Paciente masculino con cariotipo 46 XX negativo para el gen SRY y sin ambigüedad genital: reporte de un caso
title_full Paciente masculino con cariotipo 46 XX negativo para el gen SRY y sin ambigüedad genital: reporte de un caso
title_fullStr Paciente masculino con cariotipo 46 XX negativo para el gen SRY y sin ambigüedad genital: reporte de un caso
title_full_unstemmed Paciente masculino con cariotipo 46 XX negativo para el gen SRY y sin ambigüedad genital: reporte de un caso
title_short Paciente masculino con cariotipo 46 XX negativo para el gen SRY y sin ambigüedad genital: reporte de un caso
title_sort paciente masculino con cariotipo 46 xx negativo para el gen sry y sin ambigüedad genital: reporte de un caso
topic Presentación De Caso
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7363349/
https://www.ncbi.nlm.nih.gov/pubmed/31860174
http://dx.doi.org/10.7705/biomedica.4687
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