Publication Type : Journal Article
Publisher : Sex Dev
Source : Sex Dev, 13 (2): 87–91.DOI: 10.1159/000499324, Apr 2019.
Url : https://karger.com/sxd/article-abstract/13/2/87/296330/A-Novel-Homozygous-AMRH2-Gene-Mutation-in-a
Campus : Kochi
Department : Paediatric Surgery
Year : 2019
Abstract : Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian duct derivatives in otherwise phenotypically normal males. Homozygous or compound heterozygous alterations in AMH or AMHR2 have been identified in approximately 88% of PMDS cases. We report on a male patient with bilateral undescended gonads, müllerian derivatives, and normal serum AMH levels. A novel homozygous missense mutation, c.119G>C;p.Gly40Ala, in exon 2 of AMHR2 was detected that supported the clinical diagnosis of PMDS.
Cite this Research Publication : Fernandez-Cancio M, Viswanath N, Puzhankara R, Pavithran PV, Mora-Palma C, Camats N, Audi L, Benito-Sanz S., "A Novel Homozygous AMRH2 Gene Mutation in a Patient with Persistent Mullerian Duct Syndrome," Sex Dev, 13 (2): 87–91.DOI: 10.1159/000499324, Apr 2019.