A Novel Homozygous < b > < i > AMRH2 < /i > < /b > Gene Mutation in a Patient with Persistent M üllerian Duct Syndrome

We report on a male patient with bilateral undescended gonads, m üllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 ofAMHR2 was detected that supported the clinical diagnosis of PMDS.Sex Dev 2019;13:87-91

Source: Sexual Development - April 1, 2019 Category: Biology Source Type: research