Endocrine Abstracts

Introduction: Clinically inapparent adrenal masses (incidentalomas) are detected incidentally by imaging procedures in 0.5–4.5% of the general population. Diagnostic process identifies functional and potentially malignant tumors. Adrenocortical tumors might be the first manifestation of non-classic congenital adrenal hyperplasia (NC-CAH). P30L, V281L and P453S mutations of CYP21 gene are the most common mutations of NC-CAH. The aim of the study was to evaluate the relationship between these mutation carriers and prevalence of adrenal incidentalomas and their clinical picture.

Description of methods/design: The total number of 100 adult patients at the age of 20–70 years with adrenal incidentalomas discovered in Computed Tomography or Magnetic Resonance Imaging were enrolled into the study after exclusion of hormonal function of the tumor. Many clinical, biochemical and imaging data were analyzed. Direct sequencing of CYP21 gene was performed to detect P30L, V281L and P453S mutations in all subjects and in the control group of 100 neonates. ACTH (Synacthen) stimulation test was carried out in all mutation carriers and among 30 randomly chosen noncarriers with adrenal incidentalomas.

Results: Eight subjects were identified to be heterozygous carriers of CYP21 gene mutations (three of P30L, three of P453S and two of V281L), whereas no mutations were detected in the neonates’ control group (OR=8.7; P=0.0039). Higher prevalence of arterial hypertension (100 vs 52%), diabetes type 2 (50 vs 12%), as well as higher mean concentrations of renin, basal and stimulated 17-OHP were found in the carriers comparing to noncarriers.

Conclusion: Carrying P30L, V281L or P453S mutations of CYP21 gene is associated with higher prevalence of nonfunctional adrenal adenomas. Diabetes type 2 and hypertension are more common in selected CYP21 gene mutations carriers with adrenal incidentalomas than in noncarriers. ACTH stimulation test does not detect P30L, V281L or P453S CYP21 mutations in all carriers with adrenal incidentalomas.