National Cancer Institute®
Last Modified: November 21, 2001
UI - 21284766
AU - Cetinkaya E; Ocal G; Berberoglu M; Adiyaman P; Ekim M; Yalcinkaya F;
TI - Orun E Association of partial gonadal dysgenesis, nephropathy and WT1 gene mutation without Wilms' tumor: incomplete Denys-Drash syndrome.
SO - J Pediatr Endocrinol Metab 2001 May;14(5):561-4
AD - Pediatric Endocrinology Unit, Faculty of Medicine, University of Ankara, Turkey.
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.
UI - 21400638
AU - Buzi F; Mella P; Pilotta A; Felappi B; Camerino G; Notarangelo LD
TI - Frasier syndrome with childhood-onset renal failure.
SO - Horm Res 2001;55(2):77-80
AD - Centro di Auxoendocrinologia, Clinica Pediatrica dell'Universita di Brescia, Italia. email@example.com
BACKGROUND: The Wilms' tumour 1 (WT1) gene encodes a protein which is believed to exert transcriptional and tumour-suppressor activities. Mutations of this gene have occasionally been associated with Wilms' tumour (<15% of cases) and, more consistently, with three syndromes characterized by urogenital abnormalities (WAGR, Denys-Drash and Frasier syndrome). SUBJECT/METHOD: A 25-year-old phenotypic female with a 46,XY karyotype presented with amenorrhoea. An ultrasound scan showed streak gonads and a rudimentary uterus. The patient had a history of post-streptococcal glomerulonephrosis, when aged 4 years, which had rapidly progressed to kidney failure, requiring transplantation at age 8. RESULT: Frasier syndrome was suspected and confirmed by genetic analysis. In fact, direct sequencing of the PCR product of the intron 9 donor splice site revealed a substitution of guanine for adenine in position +5. CONCLUSION: Besides being one of the few Frasier syndrome cases to be genetically characterized, this case is interesting because of the unusually early-onset renal failure. Copyright 2001 S. Karger AG, Basel
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