ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2011) 26 P34

Norwegian patients with congenital adrenal hyperplasia have a high frequency of adrenal myelolipomas and adrenal hypoplasia, and testicular adrenal rest tumours was only detected in men with the saltwasting form

I N Nermoen1,2, J R Rørvik3,4, S H H Holmedal5, D L H Hykkerud5, K J Fougner6,11, J S Svartberg7,8, E S H Husebye9,10 & K L Løvås9,10

1Institute of Clinical Medicine, Akershus University Hospital, University of Oslo, Lørenskog, Norway; 2Division of Medicine, Akershus University Hospital, Lørenskog, Norway; 3Department of Surgical Sciences, University of Bergen, Bergen, Norway; 4Department of Radiology, Haukeland University Hospital, Bergen, Norway; 5Department of Radiology, Akershus University Hospital, Lørenskog, Norway; 6Department of Endocrinology, St Olavs University Hospital, Trondheim, Norway; 7Division of Medicine, University Hospital of North Norway, Tromsø, Norway; 8Institute of Clinical Medicine, University of Tromsø, Tromsø, Norway; 9Institute of Medicine, University of Bergen, Bergen, Norway; 10Department of Medicine, Haukeland University Hospital, Bergen, Norway; 11Institute of Cancer Research and Molecular Medicine, Norwegian University of Science and Technology, Trondheim, Norway.

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 18–75, 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.