[Clinical analysis of two cases of 11β-hydroxylase deficiency diagnosed after adrenal mass resection]

A retrospective analysis was conducted on the clinical data of two patients with genetically confirmed 11β-hydroxylase deficiency (11β-OHD) who were admitted to the Department of Endocrinology at the First Medical Center of Chinese PLA General Hospital between January 2023 and June 2025, and who had undergone adrenalectomy for adrenal masses prior to a definitive diagnosis. The two patients included one female (Patient 1, 37 years old) and one male (Patient 2, 22 years old); both presented with adrenal masses as a major manifestation accompanied by hypertension. Patient 1 had a history of childhood-onset clitoromegaly, primary amenorrhea, and bilateral adrenal adenomatoid hyperplasia, and underwent right adrenalectomy before the diagnosis was confirmed, with no improvement in hypertension postoperatively. Patient 2 presented with precocious puberty, hypertension, and hypokalemia, and underwent resection of a left adrenal mass, after which hypertension remained poorly controlled. Endocrine hormonal evaluation in both patients was suggestive of 11β-OHD. Genetic testing confirmed that Patient 1 carried compound heterozygous mutations in the CYP11B1 gene, namely c.1361G>A (p.Arg454His) and c.1120C>T (p.Arg374Trp), while Patient 2 carried a homozygous mutation, c.1360C>T (p.Arg454Cys). Following glucocorticoid therapy, blood pressure was well controlled in both patients; the residual left adrenal mass in Patient 1 showed no significant progression, and in Patient 2, hypokalemia was corrected and final adult height reached the genetic target height. For patients with adrenal masses accompanied by hypertension, hypokalemia, low renin and low aldosterone levels, precocious puberty, or female virilization, comprehensive endocrine hormonal evaluation and genetic testing should be performed to establish a definitive diagnosis before any treatment decisions are made, in order to avoid unnecessary adrenal surgery.