Endocrine Abstracts

Loperamide is a poorly absorbed opioid μ-receptor agonist that is the most commonly used anti-diarrhoeal medication in the UK. Prescription cost analysis from the Department of Health and Social Care Information Centre reported that 1.79 million prescriptions of the drug were issued in 2014 and it is also freely available ‘over the counter’. It is widely believed to be very safe, with constipation as the main side-effect.A 45-year-old man ...

A 54-year-old lady presented with malaise, weakness, and constipation. She was found to be mildly hypercalcaemia (adjusted calcium 2.68–2.76 mmol/l; reference range 2.12–2.60 mmol/l) and was referred to local endocrinology services. Her PTH was 79 ng/l (range 10–60) and a diagnosis of primary hyperparathyroidism was made. Imaging to localise a parathyroid source was negative. She was referred to the endocrine surgeons at the Royal Victoria Infirmary, Newcastle, ...

After adrenal insufficiency is confirmed by synacthen testing, lifelong steroid replacement is expected. We report a case of apparent reversal of adrenal insufficiency. Case details: a 66-year-old man was referred for oral pigmentation, and a random cortisol level of 184 nmol/l. He reported a 2-year history of tiredness, nocturia, dry mouth and reduced libido. There was no dizziness, salt-craving, or weight loss. He denied taking any form of steroid or over-the-counter drugs. ...

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...

The 21-hydroxylase (21OH) gene, CYP21A2, encodes the 21OH steroidogenic enzyme which is the primary autoantigen in autoimmune Addison’s disease (AAD). It is located on chromosome 6p21, in a copy number repeat termed RCCX, adjacent to the 21OH pseudogene (CYP21A1P). CYP21A1P is highly homologous to CYP21A2 but contains an 8 bp deletion in exon 3 (707-714delGAGACTAC) which results in a frameshift. The predicted protein product is...

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...