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

Sex Dev. 2017;11(5-6):289-292. doi: 10.1159/000485882. Epub 2018 Jan 13.

Abstract

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.

Keywords: AMH; AMHR2; Cryptorchidism.

Publication types

  • Case Reports

MeSH terms

  • Child, Preschool
  • Disorder of Sex Development, 46,XY / genetics*
  • Humans
  • Male
  • Mutation / genetics*
  • Receptors, Peptide / genetics*
  • Receptors, Transforming Growth Factor beta / genetics*
  • Siblings

Substances

  • Receptors, Peptide
  • Receptors, Transforming Growth Factor beta
  • anti-Mullerian hormone receptor

Supplementary concepts

  • Persistent Mullerian duct syndrome