Endocrine Abstracts

N363S polymorphism of the human glucocorticoid receptor gene has been detected in the heterozygous state in approximately 3–9% of general European population. This variant has been associated with increased sensitivity to glicocorticoids, increased insulin response to dexamethasone, a tendency towards lower bone mineral density, increased body mass index, and unstable angina. However, other reports found no associations with these pathological conditions. We assessed the prevalence of N363S in a group of 85 healthy subjects recruited between medical students and in a group of 51 patients with adrenal adenoma of incidental detection referred from 2000 to 2005 (29 women and 22 men, aged between 37–80 yr, median 60 yr). Aims of the present study were to compare the prevalence of N363S in the 2 groups, to investigate wether the presence of N363S in patients with adrenal adenoma was associated with some phenotypic characteristics. DNA was extracted from peripheral blood leukocytes using polymerase chain reaction (according to Qiagen protocol). The PCR product was digested with 1 U of TasI (Fermentas) at 65 °C overnight, and the accuracy of genotyping was confirmed by sequence. Patients with adrenal adenoma underwent a thorough evaluation of the HPA axis. Eight patients (15.7%) had subclinical Cushing’s syndrome (defined by the presence of at least 2 altered endocrine tests). The frequency of N363S at heterozygous state did not differ between patients and controls (4% vs 2.4%, P=NS). One of the two heterozygote patients qualified for subclinical Cushing’s syndrome, the other one had a normal function of HPA axis. Our data confirmed the prevalence of N363S variant described in literature. Other studies are needed to establish if N363S is associated with an increased sensitivity to glucocorticoids and may modulate the clinical phenotype.