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., ...Daha Fazla

SEXUAL DEVELOPMENT, cilt.11, ss.289-292, 2017 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 11
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1159/000485882
  • Sayfa Sayıları: ss.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