| Journal: | International braz j urol |
| Database: | PERIÓDICA |
| System number: | 000434693 |
| ISSN: | 1677-5538 |
| Authors: | García Acero, Mary1 Moreno, Olga1 Gutiérrez, Andrés2 Sánchez, Catalina2 Cataño, Juan Guillermo2 Suárez Obando, Fernando1 Rojas, Adriana1 |
| Institutions: | 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 |
| Year: | 2019 |
| Season: | Sep-Dic |
| Volumen: | 45 |
| Number: | 5 |
| Country: | Brasil |
| Language: | Inglés |
| Document type: | Artículo |
| Approach: | Caso clínico, descriptivo |
| English 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 |
| Disciplines: | Medicina |
| Keyword: | 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 |
| Full text: | Texto completo (Ver HTML) Texto completo (Ver PDF) |
