• PMID: 22797409
• Gene Name: AMH
• Condition: Persistent Müllerian duct syndrome (PMDS)
• Association: Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-Müllerianhormone (AMH) gene (single nucleotide insertion (C) at position 208 (c.208dup, p.Leu70fs)) leading to a frameshift and the introduction of a prema
• Mutation: c.208dup, p.Leu70fs
• Population size: 1
• Population details: 1 Persistent Müllerian duct syndrome (PMDS)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Persistent Müllerian duct syndrome (PMDS)

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

van der Zwan YG, Brüggenwirth HT, Drop SL, Wolffenbuttel KP, Madern GC, Looijenga LH, Visser JA.

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. CI - Copyright © 2012 S. Karger AG, Basel. FAU - van der Zwan, Y G AU - van der Zwan YG AD - Department of Pediatric Endocrinology, Sophia Children's Hospital, Rotterdam, The Netherlands. FAU - Brüggenwirth, H T AU - Brüggenwirth HT FAU - Drop, S L S AU - Drop SL FAU - Wolffenbuttel, K P AU - Wolffenbuttel KP FAU - Madern, G C AU - Madern GC FAU - Looijenga, L H J AU - Looijenga LH