Abstract
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.
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Miloševic, B., Bogdanović, R., Kostić, M. et al. Frasier syndrome diagnosed in a 4-year-old girl. cent.eur.j.med 7, 142–144 (2012). https://doi.org/10.2478/s11536-011-0135-9
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DOI: https://doi.org/10.2478/s11536-011-0135-9