Endocrine Abstracts

Incidentalomas of adrenal glands are found in approximately 0.4–4.4% of abdominal CT-scan examinations and some of them can be caused by congenital adrenal hyperplasia (CAH). Bilateral masses can be detected in 10–15% of cases. CAH is one of the most common autosomal recessively inherited disorders. Non-classical form of congenital adrenal hyperplasia (NCCAH), is the milder form of the 21-hydroxylase deficiency, with the estimated incidence of 1:1000 worldwide.

Aim: The aim of the study was to estimate the prevalence of NCCAH in patients with incidentally discovered bilateral adrenal tumors. In patients with biochemical confirmation of NCCAH genetic analysis of CYP21A2 gene was performed.

Material and methods: One hundred patients, 22 males aged 62.8 (±9.9 years) and 78 females aged 61.9 (±8.4 years) with bilateral adrenal incidentalomas, treated in Department of Endocrinology, University Hospital in Cracow, were involved in the study. The median diameter of an adrenal tumor was 27.8 mm (±10.35 mm). All the tumors were accessed in CT scans as benign ones. In all patients basal and ACTH-stimulated 17-hydroxyprogesterone (17-OHP) serum concentrations were measured. The biochemical diagnosis of NCCAH was established in patients with the basal and/or stimulated 17-OHP level ≥10 ng/ml.

Results: Twenty-seven patients (27%) – five males and 22 females were diagnosed with NCCAH. Genetic screening was performed in 66.7% of all, in three cases changes in CYP21A2 gene were revealed.

Conclusions: 1. NCCAH should be taken into consideration in patients with bilateral adrenal incidentalomas.

2. Hormonal test results still play a crucial role in the diagnosis of NCCAH.

3. Genetic analysis of CYP21A2 mutations maybe also useful in NCCAH diagnosis.