Endocrine Abstracts

Introduction: The adrenal morphology in congenital adrenal hyperplasia (CAH) is poorly described in the literature, so that adrenal radiological evaluation is not recommended in patients with CAH. The aim of this study was to evaluate the adrenal morphology in a large cohort of adult patients with CAH due to 21-hydroxylase deficiency and its correlation with the subtype of CAH (non-classical-NCAH, simple virilizing-SV, or salt wasting-SW), the hormonal status and the treatment regimen, respectively.

Methods: We conducted a retrospective study on a population of 96 adult CAH patients in care at our Endocrinology Unit since 2002; 54 patients had the NCAH, 12 the SV and 30 the SW form. At the first visit all patients performed an abdominal Computed Tomography (CT) prior to and after administration of the contrast medium. Clinical parameters, hormonal status and the cumulative dose of glucocorticoid therapy in pediatric agewere analyzed.

Results: Based on CT scan, 51 patients (53%) resulted with normal (NM group) and 45 (47%) with abnormal adrenal morphology (AM group), of which 40 subjects (89%) had micronodular hyperplasia (microH subgroup), whereas 5 (11%) had macronodular hyperplasia (macroH subgroup). ACTH and 17OH-progesterone measured at the time of the CT scan and the cumulative dose of hydrocortisone taken by the time of the diagnosis differed between NM and AM groups. In particular, ACTH levels were 31.8±5.7 pg/ml in NM group and 70.4±11.5 pg/ml in AM group (P value <0.01); 17OH-progesterone levels were 1344±396 ng/dl in NM group and 3342±746 ng/dl in AM group (P value <0.05); and the cumulative dose of hydrocortisone was 104.6±6.6 g in NM group and 68.5±8.1 g in AM group (P value <0.05). When analyzed according to the subgroups, ACTH levels were 65.1±10.6 pg/ml in microH subgroup and 112.6±62.7 pg/ml in macroH subgroup (P value <0.01); 17OH-progesterone levels were 3038±647 ng/dl in microH subgroup and 5773±4559 ng/dl in macroH subgroup (P value <0.01); and the cumulative dose of hydrocortisone was 58.7±7.4 g in microH subgroup and 141.4±29.4 g in macroH subgroup (P value <0.05).

Conclusions: The insufficient treatment of CAH seems to be associated with adrenal hyperplasia and its progression towards adrenal micro and macronodules. Clinicians should be aware that an evaluation of adrenal morphology is recommended in these adult patients, regardless of the subtype of CAH.