Abstract

FERNANDEZ, Yaribel; SARDINAS, Rosa María  and  AGUILERA, Yania. Frasier Syndrome in an adolescent: association to gonadal dysgenesis and renal chronic disease. MEDISAN [online]. 2019, vol.23, n.4, pp.740-747.  Epub Aug 26, 2019. ISSN 1029-3019.

The case report of a 16 years adolescent with apparent good health state who had been attended approximately for 3 years in the Pediatrics service to present lack of puberal changes, primary amenorrhoea, as well as increase of volume in lower members is described. The pertinent and complementary examinations were carried out and taking into account the group of clinical elements she presented, including a significant proteinuria associated with corporal dysmorfisms and hypogenitalism, the case was exposed to a multidisciplinary team, formed by nephrologists, Endocrinology specialists, geneticists and psychologists. Frasier syndrome was diagnosed, associated to nephrotic syndrome and gonadal dysgenesis.

Keywords : adolescent; Frasier syndrome; neprhotic syndrome; corporal dysformism; proteinuria; gonadal dysgenesis.

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