A Challenging Case of Congenital Adrenal Hyperplasia Due to CYP11B1 Deficiency With Uncontrolled Hypertension.

Abstract

Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency (11β-OHD) is the second most common steroidogenesis impairment in European populations, characterized by hypertension, hypokalemia, infertility, hyperandrogenism, and genital ambiguity in females. We present the case of a biological male patient with 11β-OHD CAH who developed resistant hypertension, along with massive adrenal enlargement and testicular adrenal rests due to inadequate disease control while on dexamethasone treatment, compounded by drug interactions with his antiepileptic therapy. As the patient was reluctant to switch to a three-times-daily hydrocortisone regimen, he was transitioned to dual-release hydrocortisone, resulting in progressive improvement of most of his symptoms. This case highlights the importance of tailored therapy, particularly in rare diseases.