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.

Keywords: 11β-OHD; Congenital adrenal hyperplasia (CAH); dual-release hydrocortisone; hypertension.

Figure 1

The CT scan at DR-HC start (A and B panels) and at last evaluation, 4 years later (C and D panels). A and C panels highlighted right adrenal enlargement with a hypodense nodule of the medial limb of 13 mm × 18 mm that remained stable during DR-HC treatment; B and D panels showed, instead, a diffuse enlargement of the left adrenal gland due to a long-term uncontrolled disease.

Figure 2

The testicular ultrasound of the right testis showing bilateral TARTs appearing as pseudonodular areas of rounded morphology and ill-defined margins affecting the entire parenchyma of respectively of (A) 17 mm and (B) 12 mm with a predominantly inhomogeneous hypoechoic echostructure with hyperechoic spots. These lesions appeared highly vascularized and are consistent with TARTs, despite sometimes they could be placed into differential diagnosis with other tumor lesions.