Background: Increased frequencies of adrenal tumours and testicular adrenal rest tumours (TART) have been reported in congenital adrenal hyperplasia (CAH).
Objective: To investigate the frequency of adrenal abnormalities and TART in an unselected adult population of CAH due to 21-hydroxylase deficiency (21-OH) and whether adrenal and testicular pathology correlate with disease categories, current hormone levels and treatment.
Patients, methods and design: From a cross-sectional population-based study of 101 adult Norwegian patients with classical CAH, sixty-three men (n=23) and women (n=40) participated in this study (age range 1875, response rate 62%); thirty-three were salt-wasting (SW) and 30 were simple virilising (SV). The patients were investigated with adrenal computed tomography (CT), testicular ultrasound, and morning hormones were measured after overnight medication fast.
Results: Adrenal tumours were detected in seven (11%) patients (bilateral tumours in two); four were myelolipomas and one was a phaeochromocytoma. Adrenal hypoplasia was found in eight (13%) patients, whereas 36 (57%) had hyperplasia, and 17 (27%) normal adrenal size. Abnormal adrenal CT scans were significantly more frequent in SW compared to SV. Males had significantly larger adrenal volumes and more tumours than females. TART was present in 33% of the men and occurred only with SW. Morning ACTH levels correlated positively with total adrenal volume and the frequency of TART.
Conclusions: In this population-based survey of patients with classical CAH, we found a high frequency of adrenal tumours, particularly myelolipomas, hypoplasia and hyperplasia. TART was frequently found in CAH men with SW.
30 Apr - 04 May 2011
European Society of Endocrinology