Endocrine Abstracts

In recent years, the integrated clinical academic pathway has made a previously seemingly chaotic career pathway far more organised. This is now a well-trodden path; for those interested in research, there are opportunities to join this pathway at every stage, from academic foundation programmes through to fellowships aimed at those post-CCT. Combining clinical training in endocrinology (and not forgetting diabetes and general internal medicine too) with research, whether basi...

Background: Hyperandrogenism in congenital adrenal hyperplasia (CAH) is associated with virilisation in female patients and subfertility in both male and female patients. However, little is known regarding the association of hyperandrogenaemia with polycythaemia. We evaluate the association between the adrenal hormone profile and haematocrit (HCT)/haemoglobin (Hb) in a cohort of patients with classical CAH.Methods: Single centre retrospective analysis of...

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...

Background: Clinically significant Graves’ orbitopathy (GO) develops in 20% of those with Graves’ Disease (GD). Up to 90% of cases present at the same time as, or after, hyperthyroidism develops. Most cases of GD in the UK are managed in endocrinology clinics. Despite this, patients report significant delays before a correct diagnosis of GO is made. We argued that measures to increase awareness of the early signs of GO in those with GD and establishing a fast-track r...

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...

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...

In patients with autoimmune Addison’s disease (AAD), exogenous glucocorticoid (GC) therapy is an imperfect substitute for physiological GC secretion; patients on long-term steroid replacement have increased morbidity, reduced life expectancy and poorer quality of life. Recent early-phase studieshave demonstrated that some endogenous steroidogenic function – Residual Adrenal Function (RAF) - is maintained at the point of diagnosis in a proportion of AAD patients; this...

Despite lifelong glucocorticoid and mineralocorticoid replacement, there is excess morbidity and mortality associated with autoimmune Addison’s disease (AAD). Adrenal cortical cells undergo continuous self-renewal from a population of subcapsular progenitor or stem cells, under the influence of ACTH. We aimed to determine if synthetic ACTH analogue could revive adrenal steroidogenic function and ameliorate AAD.We performed an open-label trial of syn...

Due to the rarity of autoimmune Addison’s disease (AAD), it has proved difficult to gather large case cohorts for genetic studies. Linkage analysis offers a powerful means of identifying genetic susceptibility loci but has never been applied to AAD because of the scarcity of families containing ≥2 affected individuals. We collected DNA from 23 such families to perform the first linkage study in AAD.We genotyped 117 samples (50 cases, 67 contro...