A Novel Anti-Mullerian Hormone (AMH) Gene Mutation in a Patient with Persistent Müllerian Duct Syndrome (PMDS) type 1
- Mattone, María Celeste
- Lobo de la Vega, V.
- D'Alessandro, P.
- Marino, R.
- Perez Garrido, Natalia Isabel
- Galluzzo, M. L.
- Costanzo, M.
- Zaidman, Verónica
- Lazzati, Juan Manuel
- Berensztein, E,
- Ramírez, P.
- Touzon, María Sol
- Ciaccio, M.
- Belgorosky, Alicia
- Bailez, Marcela
- Guercio, Gabriela Viviana
DOIAbstract
PMDS is an autosomic recessive disorder of sexual development caused by inactivating mutations in the AMH or the AMH receptor gene (PMDS type I and II respectively). This condition leads to the persistence of Müllerian duct derivatives in otherwise normally virilized 46,XY individuals. This clinical picture coexists with several degrees of testicular descent abnormalities and defects in male excretory ducts. Cryptorchidism is a usual presenting symptom. We report the clinical, biochemical, anatomical, and molecular features of a patient with PMDS type I. A 4.9-year-old boy was referred to us because of the incidental finding of Müllerian structures during laparoscopic assessment for bilateral non-palpable gonads. A rudimentary uterus with s...
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