Bilateral giant myelolipomas in a female patient with untreated 21-hydroxylase deficiency

Adrenal myelolipomas are benign neoplasms of the adrenal gland composed of mature adrenal and adipose tissue as well as myeloid elements. Although infrequent in the general population, their prevalence is markedly increased in patients with poorly controlled classical congenital adrenal hyperplasia (CAH), most likely attributable to chronic ACTH-mediated adrenal stimulation. We report the case of a 59-year-old female with a history of classic CAH due to 21-hydroxylase deficiency who did not receive treatment for over 30 years and had developed bilateral giant myelolipomas (left side: 24.5 cm × 20.5 cm × 9.7 cm; right side: 14.5 cm × 11.6 cm × 6.5 cm), with the left-sided myelolipoma displacing abdominal organs. The prolonged excess of adrenal androgens resulted in hirsutism, progressive hair loss, secondary amenorrhea persisting for over 30 years, and a deepening of the voice. Bilateral adrenalectomy was performed; postoperatively, the patient received glucocorticoid and mineralocorticoid replacement. Her hyperandrogenemia resolved, and symptoms of hyperandrogenism improved gradually. This case illustrates the necessity of long-term hormonal replacement and regular follow-up in patients with CAH, as well as the multidisciplinary approach to prevent or treat long-term complications such as myelolipomas.