Congenital Adrenal Hyperplasia with 11-Beta Hydroxylase Deficiency with Testicular Adrenal Rest Tumour.

Congenital adrenal hyperplasia refers to the non-malignant enlargement of adrenal gland tissue as a result of deficiency of one of several enzymes involved in adrenal hormone synthesis, secondary to a genetic mutation. 11 - Beta hydroxylase is one such enzyme, and its deficiency is a rare cause of Congenital Adrenal Hyperplasia. We describe the case of an 18-year old man who presented to us with an acute right ganglio-capsular bleed, hypertension and bilateral scrotal swelling. Investigations revealed hypokalemia, and normal renal and cardiac functions. Furthermore, sex hormone levels were found to be markedly raised, and Renin to Aldosterone ratio was also deranged. CT imaging of the adrenals confirmed hyperplasia, and ultrasound of the testes confirmed Testicular Adrenal Rest tumour, a rare finding. His condition improved significantly with treatment, and he is currently undergoing physical and occupational rehabilitation. Our case highlights the importance of evaluation of hypertension in young patients and a high degree of suspicion for rarer causes.
(© Journal of the Association of Physicians of India 2011.)