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Int Braz J Urol. 2019 May 30;45. doi: 10.1590/S1677-5538.IBJU.2018.0808. [Epub ahead of print]

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

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Human Genetic Institute, Pontificia Universidad Javeriana, Bogotá, Colombia.
Department of Urology, Hospital Universitario San Ignacio, Bogotá, Colombia.
Genetic Service, Hospital Universitario San Ignacio, Bogotá, Colombia.


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.


Anti-Mullerian Hormone; Mullerian Ducts; Persistent Mullerian duct syndrome [Supplementary Concept]

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