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ea0014p204 | (1) | ECE2007

Clinical presentation of nonclassic congenital adrenal hyperplasia &br;(NC-CAH): from suspicion to diagnosis

Román Anna Casteràs , Fernández M^a Concepción Páramo , Aguado Javier De la Fuente , Abad Elena Hervás , Rodríguez Laura Fajar , Gil Beatriz Mantiñán , Cano Reyes Luna , Iraeta M^a Antonia Rego , Rodríguez Digna , Lestón Domingo González , García-Mayor Ricardo Víctor

Background: Nonclassic congenital adrenal hyperplasia (NC-CAH) caused by mutations in CYP21B gene is an inherited disorder with various clinical forms in relation to the 21-hydroxylase (21OH) activity. Classic forms are recognized early during neonatal period as salt-wasting crisis or genital ambiguity, while non-classic form presents later with wide hyperandrogenic spectrum. Genetic testing has proved to be the definitive diagnostic method.Aim: To obser...

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Endocrine Abstracts

Clinical presentation of nonclassic congenital adrenal hyperplasia &br;(NC-CAH): from suspicion to diagnosis

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