Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
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Fecha
2019-05-30Autor(es)
Garcia-Acero, MaryMoreno Niño, Olga María
Gutierrez, Andres
Sánchez Basto, Catalina
Cataño Cataño, Juan Guillermo
Suárez-Obando, F.
Rojas, Adriana
Autor(es) Corporativo(s)
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
Pontificia Universidad Javeriana. Facultad de Medicina. Departamento de Cirugía y Especialidades. Urología
Tipo
Artículo de revista
ISSN
1677-5538 / 1677-6119 (Electrónico)
Páginas
1064-1070
Tipo de artículo
Caso clínico
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Citación
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Abstract
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.
Keywords
Mullerian ductsAnti-mullerian hormone
Persistent mullerian duct syndrome
Disorders of sex development
Cobertura espacial
ColombiaFuente
International Brazilian Journal of Urology; Volumen 45 Número 5 (2019)
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