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-2 | Engels |
---|---|
Pagina's (van-tot) | 279-283 |
Aantal pagina's | 5 |
Tijdschrift | Sexual Development |
Volume | 6 |
Nummer van het tijdschrift | 6 |
DOI's | |
Status | Gepubliceerd - nov. 2012 |
Extern gepubliceerd | Ja |