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Published on: September 15, 2017
Ambiguous genitalia and hypertension in a patient with congenital adrenal hyperplasia
1Division of Medicine, Lyell McEwin Hospital, Adelaide, South Australia, Australia. rohith.valsalan@health.sa.gov.au
Abstract:
Congenital adrenal hyperplasia (CAH) is an uncommon condition. Its clinical presentation with hypertension is rare. Deficiency of the steroid 11-beta-hydroxylase accounts for less than 10% of CAH. We report a case of a 19-year-old patient who presents with hypertension with ambiguous genitalia secondary to adrenal steroidogenesis dysfunction. We also discuss the defects in adrenal steroidogenesis and clinical phenotypes of CAH.
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