Novel homozygous mutation in a colombian patient with persistent mullerian duct syndrome: Expanded phenotype

Abstract

The anti-Mullerian hormone triggers the regression of uterus and fallopian tubes in male embryos; if there are problems in the synthesis or action of this protein, Mullerian 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 Mullerian structures, in whom the variant c.916delC (p. Leu306Cysfs 29) in the AMHR2 gene not previously reported was documented.