Endocrine Abstracts

Autoimmune Addison’s disease (AAD) is an endocrine disease resulting from the immune system’s destruction of hormone producing cells in the adrenal cortex. Autoantibodies against the steroidogenic enzyme 21-hydroxylase (21OH) is the hallmark of this form, and found in about 85 percent of patients in European populations. Risk factors are both genetic and presumably environmental. Genes associated with AAD are MHC class II especially the DR locus, MHC class I and MIC-...

Objective: The aim of this study was to determine genetic, anthropometric and metabolic features in an unselected population of adult Norwegian patients with classical 21-hydroxylase deficiency (21OHD).Patients,Methods, and design: Sixty-four 21OHD-patients participated (23 men, 41 women; mean age 40.3 (range 19–72) in a cross-sectional study including DNA sequencing of the CYP21A1P-CYP21A2 locus, anthropometric measurements i...

Background: Conventional glucocorticoid replacement therapy is unphysiological, and does not restore quality-of-life in AD. Here we evaluated the dosing regimens and glucocorticoid metabolism in 10 patients undergoing 24 h sampling during oral replacement therapy and CSHI.Design, Subjects, Measurements: We set up a cross-over randomised multi-centre clinical trial to evaluate dosage and effects of CSHI in 40 Scandinavian AD patients, comparing 3 months o...

Background: Increased frequencies of adrenal tumours and testicular adrenal rest tumours (TART) have been reported in congenital adrenal hyperplasia (CAH).Objective: To investigate the frequency of adrenal abnormalities and TART in an unselected adult population of CAH due to 21-hydroxylase deficiency (21-OH) and whether adrenal and testicular pathology correlate with disease categories, current hormone levels and treatment.Patient...