Bilateral adrenal myelolipomas presenting as acute adrenal insufficiency in an adult with congenital adrenal hyperplasia

Adrenal myelolipomas are relatively rare tumours composed of adipocytes and myeloid cells that arise in response to chronic adrenocorticotropic hormone stimulation. We present the case of bilateral adrenal myelolipomas in a 39-year-old man with untreated congenital adrenal hyperplasia (CAH) presenting with acute adrenal insufficiency and severe virilisation. Phenotypically, he is a man of short stature and has hyperpigmentation of the skin, gingiva and nail beds. Genital examination revealed micropenis and no palpable testes. Laboratory testing was consistent with primary adrenal insufficiency. An abdominal CT showed bilateral adrenal myelolipomas. An MRI of the pelvis revealed female reproductive organs. Chromosome study showed a karyotype of 46,XX. A CYP21A2 gene mutation confirmed diagnosis of CAH with 21-hydroxylase deficiency. The patient was treated with stress dose corticosteroids, subsequently tapered to physiological doses. We review previously reported cases and discussed diagnosis and treatment, including hormonal therapy and psychological approach.