[Recommendations for the diagnosis and treatment of classic forms of 21-hydroxylase-deficient congenital adrenal hyperplasia].

Autor:	Rodríguez A; Hospital General Universitario Gregorio Marañón, Madrid, España. Electronic address: amparorodriguezsanchez@yahoo.es., Ezquieta B; Fundación para Investigación Gregorio Marañón, Madrid, España., Labarta JI; Hospital Universitario Miguel Servet, Zaragoza, España., Clemente M; Hospital Vall d'Hebron, Barcelona, España., Espino R; Hospital Universitario Valme, Sevilla, España., Rodriguez A; Hospital Universitario de Cruces, Barakaldo, España., Escribano A; Hospital Clínico Universitario Virgen Arrixaca, Murcia, España.
Jazyk:	Spanish; Castilian
Zdroj:	Anales de pediatria (Barcelona, Spain : 2003) [An Pediatr (Barc)] 2017 Aug; Vol. 87 (2), pp. 116.e1-116.e10. Date of Electronic Publication: 2017 Feb 01.
DOI:	10.1016/j.anpedi.2016.12.002
Abstrakt:	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. (Copyright © 2016 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.)
Databáze:	MEDLINE
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