Resumo

PONCE GAMBINI, Jenny et al. Frasier´s syndrome. Rev Med Hered [online]. 2019, vol.30, n.1, pp.40-44. ISSN 1018-130X.  http://dx.doi.org/10.20453/rmh.v30i1.3471.

Frasier´s syndrome is a rare disease caused by a mutation in the WT1 gene and is characterized by male pseudo hermaphroditism, gonadal dysgenesis 46XY and glomerular disease. We report the case of an 18-year-old female patient diagnosed at the age of 12 years of age of nephrotic syndrome who rapidly progressed to chronic failure needing dialysis. At the age of 17-years of age she presented an abdominal tumor, a laparotomy revealed a tumor attached to the right fallopian tube. An hysterectomy with bilateral fallopian tube extirpation, pathological findings revealed a dysgerminoma. The patient had a history of primary amenorrhea and absence of secondary sexual features. The study of Barr´s corpuscle of the oral mucosa was negative for sexual chromatin and the karyotype was 46 XY (gonadal dysgenesis). The genetic study revealed heterozygous mutation in the 9 gene WT1. The clinical presentation is compatible with Frasier´s syndrome, fist time reported in Peru.

Palavras-chave : Frasier syndrome; kidney failure; chronic; dysgerminoma.

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