Endocrine Abstracts

Background: Familial male-limited precocious puberty (FMPP) or ‘testotoxicosis’ is a rare form of gonadotrophin-independent precocious puberty. There is a paucity of data on final adult height in these patients and no consensus on what constitutes appropriate treatment. Our aim was to assess the management and final height of patients with FMPP under our care as well as those reported in the literature.Methods: Growth data were obtained from no...

Background: Relapse rates in young people with Graves’ disease (GD) are around 75% after 2 years of antithyroid drugs (ATD). However, there is little mechanistic insight into the pathophysiology of relapse and a lack of robust predictive biomarkers. B cell subsets and related cytokines may reflect humoral immune activity, for which T cells have an important supporting role.Aims: The purpose of this study was to evaluate T and B cell subpopulations, ...

Background and Aims: Relapse in Graves’ disease (GD) often occurs after antithyroid drugs (ATD) are withdrawn, however there is a lack of robust predictive biomarkers for relapse and little mechanistic insight into its pathophysiology. B-cell related cytokines and chemokines may reflect humoral immune activity and therefore be predictive of outcome. The purpose of this study was to evaluate serum B-cell activating factor (BAFF), Chemokine ligand 13 (CXCL13), A-proliferati...

Background: HLA-DRB1*04 is one of the MHC alleles which is associated with several autoimmune endocrinopathies, including autoimmune Addison’s disease (AAD). The two versions of the gene which encodes the main target of the autoimmune attack in AAD, steroid 21-hydroxylase, are encoded in a gene cluster, called RCCX module, which is a copy number variation located in the MHC class III locus. Previous data from our group showed that AAD patients are more likely to have no c...

Objective: The SH2B3 gene encodes the src homology-2B adaptor protein 3, also known as lymphocyte adaptor protein (LNK), and is a negative regulator of T lymphocyte activation and the cytokine signalling pathways involved in inflammation and haematopoiesis. rs3184504, a non-synonymous SNP (R262W) in exon 3 of the SH2B3 gene, has been associated with numerous autoimmune conditions including type 1 diabetes, rheumatoid arthritis and coeliac disease. Th...

Introduction: Despite public health interventions, paediatric obesity in the UK is increasing, with almost one third overweight or obese. The direct cost of obesity to the NHS is estimated at 4.2 billion a year. The North-East has some of the highest rates of obesity in the country. A recent clinical practice guideline (March 2017) from European and US Endocrine societies aims to inform assessment, treatment and prevention of paediatric obesity.Aim: To e...

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...

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...