A Novel AMH Missense Mutation in a Patient with Persistent Mullerian Duct Syndrome

作者：van der Zwan Y G; Bruggenwirth H T; Drop S L S; Wolffenbuttel K P; Madern G C; Looijenga L H J; Visser J A^*

来源：Sexual Development, 2012, 6(6): 279-283.

DOI：10.1159/000339704

• Anti-Mullerian hormone
• Missense mutation
• Persistent Mullerian duct syndrome

Persistent Mullerian 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-Mullerian 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.

• 出版日期2012