Endocrine Abstracts

JOINT1594

Background: Chronically increased ACTH concentrations in poorly controlled patients with classic 21-hydroxylase deficiency (21-OHD) lead to adrenal hyperandrogenaemia and hyperplasia of the adrenal cortex. Markers of disease control correlate with the adrenal volume and poor disease control is associated with an increased incidence of adrenal tumours, in particular myelolipomas.

Clinical Case: We report the case of a 59-year-old female patient with classic 21-OHD (salt-wasting form). In childhood and adolescence, she had glucocorticoid (GC) and mineralocorticoid (MC) replacement therapy and had normal pubertal development. At the age of 25, she discontinued hormonal replacement therapy, which led to secondary amenorrhea, hair loss, hirsutism and deepening of the voice. She never experienced an adrenal crisis. As she suffered from severe alopecia at 56 years of age, GC and MC therapy was restarted, but the clinical and biochemically signs of hyperandrogenaemia persisted. At the age of 59 years an abdominal mass was palpated in a clinical routine check-up by the family practitioner, the patient was referred to the University Hospital and finally giant bilateral myelolipomas were diagnosed. The left-sided tumour measured 24.5 x 20.5 x 9.7 cm (2230 g), the right-sided measured 14.5 x 11.6 x 6.5 cm (501 g). Due to their massive size and the increased risk of rupture and haemorrhage, bilateral adrenalectomy was performed and the patient was educated for adrenal crisis prevention and sick day rules.

Conclusion: This case highlights the long-term consequences of untreated 21-OHD, as well as the importance of lifelong continuous therapy, good therapeutical management and adherence. In poor disease control in 21-OHD screening for adrenal tumours should be considered.