21-Hydroxylase Deficiency Presenting as an Adrenal Incidentaloma: Endocrinological Evaluation and Mutational Analysis

摘要

An adrenocortical adenoma was found incidentally in a 45-year-old man with 21-hydroxylase deficiency. A urinary steroid profile was obtained, which indicated the deficiency with elevated 17-OH-progesterone. CT scans showed a well-circumscribed low-density supra-renal mass, whereas MRI revealed a heterogeneous tumor with low intensity on Tl-weighted images and high intensity on T2-weighted images. A laparoscopic adrenalectomy was performed, and pathologic findings indicated a benign adrenocortical adenoma. Genetic analysis of the CYP21A2 gene identified mutations of I172N (lie to Asn) in exon 4, I236N (lie to Asn), V237E (Val to Glu), and M239K (Met to Lys) in exon 6. We point out again the well-known association of congenital adrenal hyperplasia with the new radiologic diagnosis of incidental adrenal adenoma.