Searchable abstracts of presentations at key conferences in endocrinology

ea0081s21.1 | Autoimmune polyendocrine syndromes | ECE2022

Autoimmunity in families with Addison’s disease

Fichna Marta

Since individuals with autoimmune Addison’s disease (AD) present considerable co-occurrence of other autoimmune conditions, clustering of autoimmunity was also predicted among their relatives. We aimed to evaluate the burden of autoimmunity in families of patients with AD by means of a survey, serum autoantibody testing and correlating these data with the established genetic risk factors (PTPN22 rs2476601, CTLA4 rs231775, and BACH2 rs3757247). 7...

ea0044p41 | Adrenal and Steroids | SFEBES2016

Impact of month of birth on the risk of development of autoimmune Addison’s disease

Pazderska Agnieszka , Fichna Marta , Mitchell Anna , Napier Catherine , Gan Earn , Ruchała Marek , Santibanez-Koref Mauro , Pearce Simon

Background: The pathogenesis of autoimmune Addison’s disease (AAD) remains incompletely understood, but it is thought to be due to interplay between genetic, immune and environmental factors. A month of birth effect, with increased risk amongst those born in autumn and winter months, have been described in autoimmune conditions such as type 1 diabetes and autoimmune thyroid disease.Aim: To investigate month of birth effect in two independent cohorts...

ea0037ep956 | Thyroid (non-cancer) | ECE2015

The role of antithyroglobulin, antiperoxidase and anti-TSH autoantibodies in amiodarone induced thyrotoxicosis or amiodarone induced hypothyroidism (a two-center study)

Czarnywojtek Agata , Zgorzalewicz-Stachowiak Malgorzata , Fichna Marta , Wolinski Kosma , Plazinska Maria Teresa , Stangierski Adam , Gut Pawel , Miechowicz Izabela , Komarowska Hanna , Czepczynski Rafal , Krolicki Leszek , Ruchala Marek

Purpose: In the recent study it has been reported, that elevated serum concentrations of TSH receptor (TSH-R), antithyroglobulin (Tg), antiperoxidase (TPO) autoantbodies (Abs) may be observed in the subjects treated for amiodarone induced thyrotixicosis (AIT) type I, decreased in type II of AIT, or changed in amiodarone induced hypothyroidism (AIH). This study was done to analyse the changes of Tg-Abs, TPO-Abs and TSH-R-Abs titer in euthyroid, hyperthyroid (AIT), and hypothyro...

ea0028oc3.6 | Obesity, thyroid and Addison's disease | SFEBES2012

GATA3 polymorphisms are associated with autoimmune Addison’s disease

Mitchell Anna , MacArthur Katie , Gan Earn , Baggott Lucy , Wolff Anette , Skinningsrud Beate , Short Andrea , Kampe Olle , Bensing Sophie , Betterle Corrado , Kasperlik-Zaluska Anna , Czarnocka Barbara , Fichna Marta , Hulting Anna-Lena , Badenhoop Klaus , Falorni Alberto , Ollier William , Undlien Dag , Husebye Eystein , Pearce Simon

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 ...