A Novel Mutation of AMHR2 In Two Siblings with Persistent Müllerian Duct Syndrome
Makaleler > Tam Makale · 2017
Yazarlar: Aydilek D. Çakır, Hande Turan, Hüseyin Onay, Haluk Emir, Senol Emre, Nil Comunoglu, Oya Ercan, Olcay Evliyaoglu
Sexual Development, Uluslararası, Wos, 2017, cilt 11, ss 289-292
DOI: 10.1159/000485882
Özet
Persistent müllerian duct syndrome (PMDS) is characterized by the presence of müllerian 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.