Article
[A genetic childhood disease with consequences in adult life: the Denys-Drash syndrome].
Nederlands tijdschrift voor geneeskunde - 30 Jul 2005
Löwik M M, van den Berkmortel F W P J, Noordam C, van Hamersvelt H W, van den Heuvel L P W J, Levtchenko E N
Abstract excerpt
In a 17-year-old woman with absent sexual development and a congenital nephrotic syndrome leading to renal failure, the Denys-Drash syndrome was diagnosed after development of an ovarian dysgerminoma. The Denys-Drash syndrome is characterised by the triad: progressive nephropathy due to diffuse mesangial sclerosis, male pseudo-hermaphroditism (XY karyotype with ambiguous or female genital organs) and an increased...
Topics
- Adolescent
- Denys-Drash Syndrome
- Disorders of Sex Development
- Female
- Genes, Wilms Tumor
- Gonadal Dysgenesis
- Humans
- Mutation
- Ovarian Neoplasms
- Quality of Life
- Urogenital Abnormalities