The Complex Spectrum of 11β-Hydroxylase Deficiency: A Case of Precocious Puberty, Hypertension, and Testicular Adrenal Rest Tumors (TARTs)
Year: 2025
Type: article
Study design: Case Report
Abstract: 11β‑hydroxylase deficiency (11β‑OHD), a rare form of congenital adrenal hyperplasia (CAH) accounting for roughly 1 in 100,000 live births, often presents with androgen excess and hypertension. It manifests in males as precocious puberty, often accompanied by hypertension, and in females as 46XX disorders of sex development with virilization. Long-term complications such as adult hypertension, impaired final height, and bilateral testicular adrenal rest tumors (TARTs) are infrequently reported. We describe a 22-year-and-10-month-old male with a history of early-onset puberty beginning at 2.5 years of age, subsequent hypertension managed between the ages of 6 and 19, and medication noncompliance over the past three years. He presented with a two-year history of progressive bilateral testicular enlargement. Clinical assessment revealed stage 2 hypertension, short stature (height below the third percentile), generalized hyperpigmentation, and testicular enlargement with irregular surface. Biochemical evaluation showed elevated 11-deoxycortisol and 17-hydroxyprogesterone, an increased androstenedione:testosterone ratio, and suppressed cortisol-consistent with 11β‑OHD. Genetic testing confirmed a homozygous CYP11B1 mutation (c.1231G>C). Ultrasound detected bilateral testicular adrenal rest tumors. Treatment was initiated with hydrocortisone and spironolactone, leading to improved blood pressure control and reduced testicular size. After three months of optimized steroid and antihypertensive therapy, blood pressure improved, testicular size decreased, and hormonal parameters showed partial normalization. Steroid dose adjustments were made to balance hypertension control with minimal bone and cardiovascular risks. Management of 11β‑OHD requires careful titration of glucocorticoids, often necessitating higher doses than 21α-hydroxylase deficiency (21α‑OHD). Dexamethasone offers superior adrenocorticotropic hormone (ACTH) suppression but carries risks of cardiovascular morbidity and reduced bone density. It is particularly effective in treating TARTs and infertility. TARTs stages 1 to 3 respond to medical therapy; advanced stages may require surgical intervention, though fertility outcomes remain uncertain. Treatment must individualize goals based on patient age, pubertal status, fertility desires, and long-term cardiovascular and bone health. This case highlights the importance of long-term follow-up in patients with 11β‑OHD, as noncompliance may predispose to complications such as hypertension and TARTs. Tailored therapy with glucocorticoids and antihypertensives can improve outcomes, though fertility preservation in the presence of advanced TARTs remains a clinical challenge.
Source: Cureus
DOI: 10.7759/cureus.94192
Institution: Krishna Institute of Medical Sciences
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: diamond
OpenAlex ID: W4414984969