Syndrome de Denys-Drash
- Syndrome de Denys-Drash
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Décrit en 1967[1], le syndrome de Denys-Drash associe chez un nouveau-né ou un nourrisson une ambiguïté sexuelle, une néphropathie et une tumeur de Wilms. La coexistence de tissu ovarien et testiculaire au sein de la même gonade est fréquemment retrouvée.
La néphropathie entraîne une insuffisance rénale responsable du décès dans les premières années de vie.
Le gène en cause se trouve sur le onzième chromosome
Sources
- (en) Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore, MD. MIM Number: 194080[1]
Références
- ↑ Denys, P.; Malvaux, P.; van den Berghe, H.; Tanghe, W.; Proesmans, W. : Association d'un syndrome anatomo-pathologique de pseudohermaphrodisme masculin, d'une tumeur de Wilms, d'une nephropathie parenchymateuse et d'un mosaicisme XX/XY. Arch. Franc. Pediat. 24: 729-739, 1967.
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