Searchable abstracts of presentations at key conferences in endocrinology

ea0013p341 | Thyroid | SFEBES2007

The relationship between serum TSH levels and blood pressure in a population sample with normal thyroid function

Razvi Salman , French Joyce , Weaver Jolanta , Vanderpump Mark , Pearce Simon

Background: There is evidence to suggest an association between hypothyroidism (overt and subclinical) and cardiovascular disease. It is unclear whether the set-point of the thyroid axis, within the normal range, may be related to vascular risk.Methods: We have reanalysed the data from the original Whickham study to assess BP in the entire cohort and its relationship to serum TSH within the reference range (0.3–6.0 mIU/L). Multivariate stepwise line...

ea0050p396 | Thyroid | SFEBES2017

Association of a promoter BAFF polymorphism in Graves’ disease

Lane Laura C , Allinson Kathleen , Cordell Heather J , Mitchell Anna L , Pearce Simon

Introduction: B lymphocyte activating factor (BAFF), a member of the tumour necrosis factor family, is essential for B cell activation, differentiation and survival. It promotes autoantibody production and as Graves’ disease is caused by thyroid stimulating autoantibodies, it is an excellent functional candidate gene. Indeed, elevated serum BAFF levels have been found in patients with several autoimmune diseases, including Graves’ disease (GD). The T al...

ea0050p396 | Thyroid | SFEBES2017

Association of a promoter BAFF polymorphism in Graves’ disease

Lane Laura C , Allinson Kathleen , Cordell Heather J , Mitchell Anna L , Pearce Simon

Introduction: B lymphocyte activating factor (BAFF), a member of the tumour necrosis factor family, is essential for B cell activation, differentiation and survival. It promotes autoantibody production and as Graves’ disease is caused by thyroid stimulating autoantibodies, it is an excellent functional candidate gene. Indeed, elevated serum BAFF levels have been found in patients with several autoimmune diseases, including Graves’ disease (GD). The T al...

ea0086p1 | Adrenal and Cardiovascular | SFEBES2022

Replication of association at the LPP and UBASH3A loci in a UK autoimmune Addison’s disease cohort

Howarth Sophie , Sneddon Georgina , Allinson Kathleen , Razvi Salman , Mitchell Anna , Pearce Simon

Background: Autoimmune Addison’s disease (AAD) is a rare endocrinopathy arising from a complex interplay between multiple genetic susceptibility polymorphisms and environmental factors. Several variants in immune pathways have been identified through hypothesis-driven candidate gene analysis, though these associations can prove difficult to replicate. The first genome wide association study (GWAS) with patients from Scandinavian Addison’s registries identified associ...

ea0090ep24 | Adrenal and Cardiovascular Endocrinology | ECE2023

Addison’s disease with preserved glucocorticoid function in the Type 1 diabetes population: a diagnosis not to miss during routine diabetes follow-up

Bond Zoe , Rashid Razan Ali , Pearce Simon , Napier Catherine , Mitchell Anna , Mamoojee Yaasir

Background: Prevalence of Addison’s disease (AD) among patients with Type 1 diabetes mellitus (T1DM) is estimated at 0.2%, whilst prevalence of T1DM among patients with AD can be up to 14%. Residual adrenal function in patients with established AD may be present in up to 30% of cases but its clinical significance is not fully clear.Aims: To evaluate the prevalence of AD with preserved glucocorticoid function in patients with T1DM at Newcastle Diabet...

ea0044oc4.4 | Adrenal and Steroids | SFEBES2016

A Single Nucleotide Polymorphism in the BACH2 Gene Contributes to Susceptibility to Autoimmune Addison’s Disease in UK and Norwegian cohorts

Pazderska Agnieszka , Oftedal Bergithe , Napier Catherine , Ainsworth Holly , Husebye Eystein , Cordell Heather , Pearce Simon , Mitchell Anna

Background: Autoimmune Addison disease (AAD) is a rare but highly heritable endocrinopathy. The BACH2 protein plays a crucial role in T lymphocyte maturation, and in particular in regulatory T cell formation, and allelic variation in its gene has been associated with autoimmune conditions such as type 1 diabetes, autoimmune thyroid disease and vitiligo. Its role in susceptibility to autoimmune Addison’s disease (AAD) has not been investigated.Aim: T...

ea0044p244 | Thyroid | SFEBES2016

TIGIT gene variants and thyroid disease susceptibility in dogs and humans

Bhatnagar Ishita , Massey Jonathan , Kennedy Lorna , Ollier William , Cordell Heather , Pearce Simon , Mitchell Anna

Background: The autoimmune thyroid diseases, primary autoimmune hypothyroidism (AH) and Graves’ hyperthyroidism (GD), represent the most prevalent endocrine disorders. Although clinically distinct, they share several genetic susceptibility loci, many of which remain unidentified.TIGIT (T cell immunoreceptor with immunoglobulin and ITIM domains), expressed on the surface of T-cells, interacts with CD-155 on dendritic cells to form an alternative cost...

ea0038p403 | Steroids | SFEBES2015

Immunogenicity in AAD patients treated with depot tetracosactide

Davis Joanna L , Napier Catherine , Mitchell Anna L , Gan Earn H , Pearce Simon H S

ACTH is a 39 amino acids polypeptide which stimulates adrenocortical steroid production. The N-terminal segment of ACTH(1–24) is biologically active and the C-terminal is considered to have greater antigenicity. In one previous (‘RoSA’) and one current (‘RADS2’) clinical trial synthetic ACTH (zinc tetracosactide; depot synacthen) was administered to autoimmune Addison’s disease (AAD) patients to stimulate adrenocortical regeneration. 4/13 RoSA pat...

ea0031p327 | Steroids | SFEBES2013

The role of anti-ACTH1–24 antibodies in synacthen-related adverse events

Gan Earn H , MacArthur Katie , Mitchell Anna L , Crock Patricia , Bensing Sophie , Pearce Simon H S

Background: Immune responses to self-peptides should not generally occur. However, four of 12 autoimmune Addison’s disease (AAD) patients developed adverse reactions immediately after synacthen injections, following repeated subcutaneous synacthen injections during a clinical trial (RoSA study). We wondered if these adverse effects were due to the production of anti-synacthen (ACTH1–24) antibodies.Methods: We evaluated the presence o...

ea0015p92 | Clinical practice/governance and case reports | SFEBES2008

Extreme delay in presentation of congenital adrenal hyperplasia in a male with CYP21A2 deficiency

Arutchelvam Vijayaraman , Ravikumar Balasubramaniyam , Advani Andrew , Pearce Simon HS , Taylor Roy , Forrest Ian , Quinton Richard

Introduction: Congenital adrenal hyperplasia (CAH) is an inherited disorder, most commonly caused by enzymatic deficiency of 21-hydroxylase (CYP21A2). The non-classic or late-onset form is one of the most common autosomal recessive diseases in women, but the diagnosis is only rarely made in men unless they happen to present with testicular or adrenal masses or infertility.Case report: A 65-year-old man presented with recurrent episodes of postural dizzin...