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Singapore medical journal ; : e148-9, 2012.
Article in English | WPRIM | ID: wpr-249696

ABSTRACT

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.


Subject(s)
Adolescent , Female , Humans , Adrenal Hyperplasia, Congenital , Diagnosis , Genetics , Alkalosis , Diagnosis , Diagnosis, Differential , Hypertension , Diagnosis , Hypokalemia , Diagnosis , Models, Biological , Paralysis , Diagnosis , Sexual Infantilism , Diagnosis , Steroid 21-Hydroxylase , Metabolism
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