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., ...Daha Fazla

JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, cilt.14, sa.5, ss.561-564, 2001 (SCI-Expanded, Scopus) identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 14 Sayı: 5
  • Basım Tarihi: 2001
  • Dergi Adı: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.561-564
  • Anahtar Kelimeler: Denys-Drash syndrome, WT1 mutations, GENOTYPE/PHENOTYPE CORRELATIONS, PSEUDOHERMAPHRODITISM
  • Ankara Üniversitesi Adresli: Evet

Özet

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.