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BY-NC-ND 3.0 license Open Access Published by De Gruyter Open Access February 3, 2012

Frasier syndrome diagnosed in a 4-year-old girl

Biljana Miloševic, Radovan Bogdanović, Mirjana Kostić and Vesna Stojanović
From the journal Open Medicine


The authors present the case of a girl with Frasier syndrome that was diagnosed at the age of 4 years. At 3.5 years, she was diagnosed a steroid-resistant nephrotic syndrome associated with focal segmental glomerulosclerosis. The girl presented with female phenotype and male genotype (46XY) as well with gonadal dysgenesis. Genetic analysis confirmed the +2T>C mutation in the intron 9 of the WT1 gene. She developed end-stage renal disease at 14 years, culminating in renal transplantation. The liver biopsy revealed a post-transplantation lymph-proliferative disease.

[1] McTaggart J, Algar E, Chow CW, Powell HR, Jones CL. Clinical spectrum of Denys-Drash and Frasier syndrome. Pediatr Nephrol. 2001;16:335–339 in Google Scholar

[2] Koziell A, Grundy R. Frasier and Denys-Drash syndromes: different disorders or part of a spectrum. Arch Dis Child. 1999;81:365–369 in Google Scholar

[3] Scott RH, Stiller CA, Walker L, Rahman N. Syndromes and constitutional chromosomal abnormalities associated with Wilms tumour. J Med Genet. 2006;43:705–715 in Google Scholar

[4] Morrison AA, Viney RL, Saleem MA, Ladomery MR. New insights into the function of the Wilms tumor suppressor gene WT1 in podocytes. Am J Physiol Renal Physiol. 2008; 295(1): F12–F17 in Google Scholar

[5] Scharnhorst V, van der Eb AJ, Jochemsen AG. WT1 proteins: functions in growth and differentiation. Gene. 2001;273:141–161 in Google Scholar

[6] Benz K, Plank C, Amann K, Mucha B, Dorr HG, Rascher W, et al. Hypergonadotropic hypogonadism and renal failure due to WT1 mutation. Nephrol Dial Transplant. 2006; 21:1716–1718 in Google Scholar

[7] Bonte A, Schroder W, Denamur E, Querfeld U. Absent pubertal development in a child with chronic renal failure: the case of Frasier syndrome. Nephrol Dial Transplant. 2000;15:1688–1690 in Google Scholar

[8] Ferrari A, Perotti D, Giardini R, Ghio L, Riva S, Massimino M. Disseminated Burkitts lymphoma after kidney transplantation:a case report in a boy with Drash syndrome. J pediatr Hematol Oncol. 1993;19:151–155 in Google Scholar

[9] Nocera A, Perotti D, Ghio L, Dell Amico R, Fontana I, Cardillo M, et al. De novo cancers in paediatric renal transplant recipients: a multicentre analysis within the North Italy Transplant programme (NITp), Italy. Europ J Cancer. 2000;36:80–86 in Google Scholar

Published Online: 2012-2-3
Published in Print: 2012-4-1

© 2011 Versita Warsaw

This work is licensed under the Creative Commons Attribution-NonCommercial-NoDerivatives 3.0 License.

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