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

ÇAKıR A., TURAN H., ONAY H., EMIR H., EMRE S., Comunoglu N., ...Daha Fazla

SEXUAL DEVELOPMENT, cilt.11, ss.289-292, 2017 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 11
  • Basım Tarihi: 2017
  • Doi Numarası: 10.1159/000485882
  • Dergi Adı: SEXUAL DEVELOPMENT
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.289-292
  • İstanbul Üniversitesi-Cerrahpaşa Adresli: Evet

Özet

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