Síndrome de Frasier en una adolescente: asociación con disgenesia gonadal y enfermedad renal crónica / Frasier Syndrome in an adolescent: association to gonadal dysgenesis and renal chronic disease
Medisan
;
23(4)jul.-ago. 2019. ilus
Article
in Spanish
| LILACS, CUMED
| ID: biblio-1091120
RESUMEN
Se describe el caso clínico de una adolescente de 16 años de edad, con aparente buen estado de salud, quien había sido atendida desde hacía 3 años aproximadamente en la consulta de Pediatría por presentar falta de desarrollo puberal, amenorrea primaria, así como aumento de volumen en miembros inferiores. Se le realizaron los exámenes complementarios pertinentes y dado el conjunto de elementos clínicos que presentaba, incluida una proteinuria significativa asociada a dismorfismos corporales e hipogenitalismo, se consultó el caso con un equipo multidisciplinario, integrado por nefrólogos, endocrinólogos, genetistas y psicólogos. Se le diagnosticó el síndrome de Frasier, como una asociación síndrome nefrótico-disgenesia gonadal.
ABSTRACT
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.
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Adolescent
/
Frasier Syndrome
/
Body Dysmorphic Disorders
/
Gonadal Dysgenesis
Type of study:
Risk factors
Language:
Spanish
Journal:
Medisan
Journal subject:
Medicine
Year:
2019
Type:
Article
Affiliation country:
Cuba
Institution/Affiliation country:
Universidad de Ciencias Médicas/CU
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