A TRIAD TO DIAGNOSIS- CONGENITAL ADRENAL HYPERPLASIA

Abstract

Congenital adrenal hyperplasia due to deciency of 17 α Hydroxylase is an autosomal recessive condition caused by mutation of the CYP17A1 gene. The following case report demonstrates a rare case of 16 year old female, who presented to the Emergency Department with dehydration and generalized weakness (in a state of shock) with hypertension. She had persistent hypokalemia and her mother gave a history of not attaining menarche. Keeping a triad of hypokalemia, hypertension, and delayed puberty we investigated her endocrine workup which led to the diagnosis of 17 α Hydroxylase deciency. She was later started on steroids and estrogen, which showed improvement in her clinical condition on follow-up.