Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype



Título del documento: Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
Revista: International braz j urol
Base de datos: PERIÓDICA
Número de sistema: 000434693
ISSN: 1677-5538
Autores: 1
1
2
2
2
1
1
Instituciones: 1Pontificia Universidad Javeriana, Instituto de Genética Humana, Bogotá. Colombia
2Hospital Universitario San Ignacio, Departamento de Urología, Bogotá. Colombia
3Hospital Universitario San Ignacio, Servicio de Genética, Bogotá. Colombia
Año:
Periodo: Sep-Dic
Volumen: 45
Número: 5
País: Brasil
Idioma: Inglés
Tipo de documento: Artículo
Enfoque: Caso clínico, descriptivo
Resumen en inglés The anti-Müllerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Müllerian structures persist in an otherwise phenotypic male. The most frequent clinical presentation of Persistent Mullerian Duct syndrome is cryptorchidism and inguinal hernia. The few cases reported in adults are incidental findings or inguinal hernias. However, we present an adult male with history of bilateral cryptorchidism with unsuccessful orchidopexy, who presents with a large abdominal mass with the finding of a seminomatous tumor and persistence of Müllerian structures, in whom the variant c.916delC (p.Leu306Cysfs*29) in the AMHR2 gene not previously reported was documented
Disciplinas: Medicina
Palabras clave: Urología,
Genética,
Cirugía,
Síndrome de conducto Mulleriano persistente,
Criptorquidia,
Hormona antimulleriana,
Conductos de Müller
Keyword: Urology,
Genetics,
Surgery,
Mullerian ducts,
Anti-mullerian hormone,
Persistent Mullerian duct syndrome,
Cryptorchidism
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