• PMID: 22797409
• Gene Name: AMH
• Condition: Persistent M�llerian duct�syndrome�(PMDS)
• Association: Here, we report a patient diagnosed with PMDS with a novel homozygous missense mutation in the anti-M�llerianhormone�(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 M�llerian duct syndrome (PMDS)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Persistent M�llerian duct�syndrome�(PMDS)

A novel AMH missense mutation in a patient with persistent M�llerian duct syndrome

van der Zwan YG, Br�ggenwirth 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