Congenital adrenal hyperplasia masquerading as periodic paralysis in an adolescent girl

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.

Keywords: congenital adrenal hyperplasia, hypertension, hypokalaemia, periodic paralysis, sexual infantilism
Singapore Med J 2012; 53(7):e148–e149