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    A Novel Mutation of AMHR2 In Two Siblings with Persistent Mullerian Duct Syndrome
    (Karger, 2017) Cakir, Aydilek D.; Turan, Hande; Onay, Huseyin; Emir, Haluk; Emre, Senol; Comunoglu, Nil; Ercan, Oya; Evliyaoglu, Olcay
    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