A case of bilateral adrenal myelolipoma in congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: A rare and uncommon finding

Abstract

Abstract Congenital adrenal hyperplasia (CAH) is a common endocrine disorder that can lead to poor quality of life and the development of adrenal and extra-adrenal mass lesions when poorly controlled. Adrenal myelolipomas are rare, benign neoplasms that have been observed in long-standing, uncontrolled CAH cases. In this report, we describe a 31-year-old patient with ambiguous genitalia, hypokalemia, and normotension. The hormonal profile showed elevated 11-deoxy cortisol and 17-hydroxy progesterone. The clinical and biochemical profile was suggestive of CAH due to 11-beta-hydroxylase deficiency. On evaluation for pain abdomen, bilateral large adrenal myelolipomas were found for which surgery was done. Presently the index case is on steroid replacement therapy. This case emphasizes the importance of timely diagnosis adherence to treatment and appropriate follow-up of CAH cases in order to prevent the development of adrenal myelolipomas.