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

Y G van der Zwan, H T Brüggenwirth, S L S Drop, K P Wolffenbuttel, G C Madern, L H J Looijenga, J A Visser

Onderzoeksoutput: Bijdrage aan tijdschriftArtikelpeer review

Samenvatting

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.

Originele taal-2Engels
Pagina's (van-tot)279-83
Aantal pagina's5
TijdschriftSexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation
Volume6
Nummer van het tijdschrift6
DOI's
StatusGepubliceerd - 2012
Extern gepubliceerdJa

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