[Genetics and molecular pathology of anti-Mullerian hormone and its receptor]

Anti-müllerian hormone (AMH), a glycoprotein produced by immature Sertoli cells, is responsible in male fetuses for regression of müllerian ducts, the anlagen of Fallopian tubes and uterus in females. AMH binds to a specific type II serine-threonine kinase transmembrane receptor (AMHR-II). A known pathology of AMH and its receptor is the persistent müllerian ducts syndrome (PMDS), a peculiar case of male pseudohermaphroditism, presenting with retention of tubes and uterus in otherwise normally virilized boys, and transmitted with an autosomic recessive mode. Genetic studies on 76 families of patients allowed identification of AMH gene mutations in 45%, and AMHR-II gene mutations in 39% (including a 27 bases deletion in half of the latter). In 15% mutation of none of the two genes was detected, thus mutations are expected in genes coding for other factors of the AMH transduction cascade.