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Singapore medical journal ; : e148-9, 2012.
Artículo en Inglés | WPRIM | ID: wpr-249696

RESUMEN

Congenital adrenal hyperplasia is an uncommon diagnosis in routine clinical practice. 21-hydroxylase deficiency, which is its most common subtype, may be diagnosed at birth in a female infant by virilisation or by features of salt wasting in both genders. However, other uncommon subtypes of this condition such as 17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency may present much later in adolescence or adulthood. A high index of suspicion is necessary when evaluating children with hypertension, hypokalaemia, metabolic alkalosis or sexual infantilism.


Asunto(s)
Adolescente , Femenino , Humanos , Hiperplasia Suprarrenal Congénita , Diagnóstico , Genética , Alcalosis , Diagnóstico , Diagnóstico Diferencial , Hipertensión , Diagnóstico , Hipopotasemia , Diagnóstico , Modelos Biológicos , Parálisis , Diagnóstico , Infantilismo Sexual , Diagnóstico , Esteroide 21-Hidroxilasa , Metabolismo
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