Cakir, Aydilek D.Turan, HandeOnay, HuseyinEmir, HalukEmre, SenolComunoglu, NilErcan, OyaEvliyaoglu, Olcay2019-10-272019-10-2720171661-54251661-5433https://doi.org/10.1159/000485882https://hdl.handle.net/11454/32653Persistent 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, Baselen10.1159/000485882info:eu-repo/semantics/closedAccessAMHAMHR2CryptorchidismArticle1105.Jun289292WOS:00042420610001029332065Q3