Document Detail

Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete Denys-Drash syndrome.
MedLine Citation:
PMID:  11393579     Owner:  NLM     Status:  MEDLINE    
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.
E Cetinkaya; G Ocal; M Berberoğlu; P Adiyaman; M Ekim; F Yalçinkaya; E Orün
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of pediatric endocrinology & metabolism : JPEM     Volume:  14     ISSN:  0334-018X     ISO Abbreviation:  J. Pediatr. Endocrinol. Metab.     Publication Date:  2001 May 
Date Detail:
Created Date:  2001-06-06     Completed Date:  2001-10-11     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  9508900     Medline TA:  J Pediatr Endocrinol Metab     Country:  England    
Other Details:
Languages:  eng     Pagination:  561-4     Citation Subset:  IM    
Pediatric Endocrinology Unit, Faculty of Medicine, University of Ankara, Turkey.
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MeSH Terms
Genes, Wilms Tumor / genetics*
Gonadal Dysgenesis / complications*,  genetics*
Kidney Diseases / complications*,  genetics*,  pathology
Pseudohermaphroditism / etiology

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