Endocrine Abstracts

Introduction: Patients with Addison’s disease (AD) self-report impairment in specific dimensions on well-being questionnaires. An AD disease-specific quality of life questionnaire (AddiQoL) was developed to aid evaluation of patients. We here aimed to validate translated questionnaires in terms of internal consistency and reliability and to improve the construct of the scale.Methods: After translation by a multistep approach, the final versions were...

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...

Three siblings of Pakistani origin presented shortly after birth with failure to thrive and hyperkalemia and were found to have isolated hyperreninaemic hypoaldosteronism. They were all well controlled on fludrocortisone therapy during childhood and adolescence. When reassessed in adult life off fludrocortisone treatment, hyperreninaemic hypoaldosteronism was confirmed in all subjects, but with significant hyperkalemia in only one case. None of the subjects developed orthostat...

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...