A novel AMH missense mutation in a patient with persistent Müllerian duct syndrome

Sex Dev. 2012;6(6):279-83. doi: 10.1159/000339704. Epub 2012 Jul 11.


Persistent Müllerian duct syndrome (PMDS) is characterized by the presence of a uterus, fallopian tubes, and the upper part of the vagina in phenotypic normal male patients. Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Müllerian hormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshift and the introduction of a premature stop codon. Biopsy of both gonads revealed that germ cells were present in an irregular distribution. However, the absence of OCT3/4, PLAP and c-KIT expression indicated physiological maturation.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Anti-Mullerian Hormone / blood
  • Anti-Mullerian Hormone / chemistry
  • Anti-Mullerian Hormone / genetics*
  • Base Sequence
  • DNA Mutational Analysis
  • Disorder of Sex Development, 46,XY / blood
  • Disorder of Sex Development, 46,XY / genetics*
  • Disorder of Sex Development, 46,XY / pathology
  • Homozygote
  • Humans
  • Infant, Newborn
  • Inhibins / blood
  • Male
  • Mutation, Missense / genetics*
  • Pedigree
  • Spermatogonia / pathology
  • Testis / pathology
  • Testosterone / blood


  • inhibin B
  • Testosterone
  • Inhibins
  • Anti-Mullerian Hormone

Supplementary concepts

  • Persistent Mullerian duct syndrome