A Novel Mutation of AMHR2 In Two Siblings with Persistent Mullerian Duct Syndrome

Cakir A. D. , Turan H., ONAY H. , Emir H., Emre S., Comunoglu N., ...More

SEXUAL DEVELOPMENT, vol.11, pp.289-292, 2017 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 11
  • Publication Date: 2017
  • Doi Number: 10.1159/000485882
  • Title of Journal : SEXUAL DEVELOPMENT
  • Page Numbers: pp.289-292


Persistent mullerian duct syndrome (PMDS) is characterized by the presence of mullerian duct derivatives in otherwise phenotypically normal males. It is caused in approximately 85% of the cases by mutations in the AMH gene or its type II receptor (AMHR2). We report on 2 brothers with normal external genitalia but high serum AMH levels. Sequence analysis of the AMHR2 gene in the 2 siblings revealed a novel homozygous missense mutation in exon 10 (p.V458L, c.1372G>T). PMDS is a rare condition, but it has to be considered in differential diagnosis of cryptorchidism with normal male genitalia. (C) 2018 S. Karger AG, Basel