Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete Denys-Drash syndrome.
The concurrence of ambiguous genitalia, nephropathy and predisposition to Wilms' tumor are characteristics of Denys-Drash syndrome. Some of the reported patients do not express the full spectrum of the syndrome, while the occurrence of nephropathy has become a generally accepted common feature of this syndrome. We report an infant with male pseudohermaphroditism due to partial gonadal dysgenesis and nephropathy without Wilms' tumor but with a Wilms' tumor suppressor gene (WT1) mutation. The high risk of Wilms' tumor mandates regular surveillance and the use of prophylactic bilateral nephrectomy as a treatment is not yet clear.
Cetinkaya
E
E
Pediatric Endocrinology Unit, Faculty of Medicine, University of Ankara, Turkey.
Ocal
G
G
Berberoğlu
M
M
Adiyaman
P
P
Ekim
M
M
Yalçinkaya
F
F
Orün
E
E
D002648:Child; D012734:Disorders of Sex Development / Q000209:etiology; D016162:Genes, Wilms Tumor / Q000235:genetics*; D006059:Gonadal Dysgenesis / Q000150:complications* / Q000235:genetics*; D006801:Humans; D007674:Kidney Diseases / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D013577:Syndrome