Endocrine Abstracts

Introduction: Congenital adrenal hyperplasia (CAH) in its classical form is an early-onset and challenging-to-treat condition with long-term evolution associated with significant morbidity, typically involving metabolism, bone, and gonadal aspects. Through this specific case study, we illustrate one of the rare complications of CAH in adulthood.

Case Report: A 24-year-old patient, born of consanguineous parents, has been monitored since birth for classical virilizing CAH. The patient is treated with suppressive doses of dexamethasone, but due to poor treatment adherence, the disease remains in chronic imbalance (17OHP consistently >15 ng/ml). An abdominal CT scan conducted to investigate abdominal pain revealed two large bilateral adrenal masses measuring 6 cm (right) and 5.8 cm (left) with loss of the fatty rim. Hormonal assessment did not reveal hormonal hypersecretion. Functional imaging with PET-FDG showed no increased metabolism in relation to the masses, and the extension study was negative. A right adrenalectomy was performed, and pathological examination revealed a benign-looking tumor. Evaluation at 3 months postoperatively showed persistent disease imbalance (17OHP= 57 ng/ml and ACTH >2000 pg/ml) with a 40% increase in the size of the left adrenal confluent tumor.

Discussion: This case illustrates an unusual complication of CAH with a long course. Prolonged exposure to excess ACTH appears to be the primary etiopathogenic factor for adrenal tumorigenesis in the context of CAH. Malignant transformation and the simultaneous presence of two masses of different histological and functional nature are situations rarely described in the literature but remain plausible in our patient given the rapid increase in size. This concern highlights the importance of careful monitoring.