Endocrine Abstracts

Context: Fludrocortisone (FC) is the mineralocorticoid (MC) replacement treatment for patients with primary adrenal insufficiency (PAI). Objective: To explore the dose of FC treatment and its relationship with glucocorticoid therapy, sodium, potassium, renin and clinical parameters. Design: Longitudinal study.Setting: Monocentric cohort.Patients: Data of 193 patients with PAI (130 autoi...

Introduction and aim: The purpose of replacement therapy in Adrenal Insufficiency (AI) is mimicking endogenous cortisol levels as closely as possible: dual release hydrocortisone (DR-HC) has been introduced to replicate the circadian cortisol rhythm. Multiple daily saliva collections could be used to assess the cortisol concentration during real-life: our aim was to study the salivary cortisol rhythm in AI.Materials and methods: We prospectively evaluate...

Background: Primary Adrenal Insufficiency (PAI) is a rare life-threatening disorder. Data on etiology and outcome of PAI in childhood are scanty, with the exception of Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD). The aim of our study is to evaluate etiology, morbidity and long-term outcome of PAI in a large cohort of children and characterize clinical presentation in subjects with PAI not due to 21OHD CAH.Material and me...

Autoimmune Addison’s disease (AAD) is a rare, highly heritable endocrinopathy with an estimated λsibling (ratio of risk to a sibling vs the unrelated background population) of 160–210. The majority of the genetic risk to AAD has yet to be accounted for. We have used a tag-SNP approach to seek association between single nucleotide polymorphisms (SNPs) in the GATA3 gene and autoimmune Addison’s disease (AAD). 2001 AAD cases and 1898 controls were included in ...