Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive diseases. Decreased production of cortisol leads to increased secretion of CRH and ACTH, resulting in overproduction of androgens and hyperplastic adrenals. 21-OH deficiency has thus been speculated to predispose for the formation of morphological adrenal abnormalities. However, studies are rare, the most relevant showing a high incidence of adrenal masses in 82% CAH patients. We then decided to evaluate adrenal morphology on CT-scan in CAH patients. We performed adrenal helicoidal CT scan with contiguous 3-mm-thick slices in 42 patients (33 females and 9 males; mean age, 27.6 yr (14–47 yr)). Twenty one had a salt-wasting form (SW), 11 a simple virilizing one (SV) and 10 a non-classical form (NCF). We found adrenal hyperplasia in 17 patients (40%), 12 with SW and 5 with SV form. Bilateral adrenocortical adenomas were observed in 2 of them. Subjects with adrenal hyperplasia were older (31.4±1.7 years versus 26.5±1.5 years, P=0.04), and had higher levels of 17OHprogesterone (105.2±24.5 ng/ml versus 11.1±4.9 ng/ml, P<0.0001) androstenedione (10.7±2.7 ng/ml versus 2.3±0.6 ng/ml, P=0.0006) and renin levels (116±45 ng/ml versus 18±2 ng/ml, P=0.008) than subjects with normal adrenal CT-scan. Total glucocorticoids dose is in current evaluation in both groups. Our results suggest that morphological adrenal abnormalities are not so common in CAH patients; however, they seem to be associated with increasing severity of the enzymatic defect and undertreatment may play an important role in their development. CT-scan should then be proposed in adult CAH patient, but to avoid radiation exposure, adrenal MRI should then be proposed in the follow-up of patients with adrenal abnormalities. Moreover, we propose that CAH should always be ruled out in the case of incidentally detected adrenal masses.