Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: Incomplete Denys-Drash syndrome

Cetinkaya E., Ocal G., Berberoglu M., Adiyaman P., Ekim M., Yalcinkaya F., ...More

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, vol.14, no.5, pp.561-564, 2001 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 14 Issue: 5
  • Publication Date: 2001
  • Journal Name: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.561-564
  • Keywords: Denys-Drash syndrome, WT1 mutations, GENOTYPE/PHENOTYPE CORRELATIONS, PSEUDOHERMAPHRODITISM
  • Ankara University Affiliated: Yes

Abstract

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.