A novel AMH missense mutation in a patient with persistent Müllerian duct syndrome.
Sex Dev
; 6(6): 279-83, 2012.
Article
en En
| MEDLINE
| ID: mdl-22797409
ABSTRACT
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.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Mutación Missense
/
Hormona Antimülleriana
/
Trastorno del Desarrollo Sexual 46,XY
Idioma:
En
Revista:
Sex Dev
Asunto de la revista:
CIENCIAS DO COMPORTAMENTO
Año:
2012
Tipo del documento:
Article