Novel homozygous mutation in a colombian patient with persistent müllerian duct syndrome: expanded phenotype
Int. braz. j. urol
;
45(5): 1064-1070, Sept.-Dec. 2019. tab, graf
Artículo
en Inglés
| LILACS
| ID: biblio-1040062
ABSTRACT
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.
Texto completo:
Disponible
Índice:
LILACS (Américas)
Asunto principal:
Fenotipo
/
Trastorno del Desarrollo Sexual 46,XY
/
Homocigoto
/
Mutación
Límite:
Adulto
/
Humanos
/
Masculino
País/Región como asunto:
America del Sur
/
Colombia
Idioma:
Inglés
Revista:
Int. braz. j. urol
Asunto de la revista:
Urología
Año:
2019
Tipo del documento:
Artículo
País de afiliación:
Colombia
Institución/País de afiliación:
Hospital Universitario San Ignacio/CO
/
Pontificia Universidad Javeriana/CO
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