A Novel Mutation of AMHR2 In Two Siblings with Persistent Mullerian Duct Syndrome
SEXUAL DEVELOPMENT, cilt.11, ss.289-292, 2017 (SCI-Expanded, Scopus)
- 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