[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia]. / Recomendaciones para el diagnóstico y tratamiento de pacientes con formas clásicas de hiperplasia suprarrenal congénita por déficit de 21-hidroxilasa.
An Pediatr (Barc)
; 87(2): 116.e1-116.e10, 2017 Aug.
Article
em Es
| MEDLINE
| ID: mdl-28161392
ABSTRACT
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is an autosomal recessive disorder caused by mutations in the CYP21A2 gene. Cortisol and aldosterone synthesis are impaired in the classic forms (adrenal insufficiency and salt-wasting crisis). Females affected are virilised at birth, and are at risk for genital ambiguity. In this article we give recommendations for an early as possible diagnosis and an appropriate and individualised treatment. A patient and family genetic study is essential for the diagnosis of the patient, and allows genetic counselling, as well as a prenatal diagnosis and treatment for future pregnancy.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Hiperplasia Suprarrenal Congênita
Tipo de estudo:
Diagnostic_studies
/
Guideline
Limite:
Adolescent
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Child
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Female
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Humans
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Male
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Newborn
Idioma:
Es
Revista:
An Pediatr (Barc)
Ano de publicação:
2017
Tipo de documento:
Article