Searchable abstracts of presentations at key conferences in endocrinology

ea0038p332 | Pituitary | SFEBES2015

Loperamide-induced hypopituitarism

Napier Catherine , Pearce Simon H S

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 ...

ea0034p68 | Clinical practice/governance and case reports | SFEBES2014

Pseudo-secondary hyperparathyroidism due to vitamin D deficiency and coexisting familial hypocalciuric hypercalcaemia

Mitchell Anna Louise , Bliss Richard , Pearce Simon H S

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, ...

ea0025p98 | Clinical biochemistry | SFEBES2011

Disappearing adrenal insufficiency

Gan Earn H , James Andy , Pearce Simon H S

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. ...

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...

ea0034oc3.3 | Steroids | SFEBES2014

The 21-hydroxylase pseudogene may have a role in induction of tolerance to steroidogenic machinery

Mitchell Anna Louise , Bronstad Ingeborg , Wolff Anette Boe , Narravula Alekhya , Skinningsrud Beate , Husebye Eystein S , Pearce Simon H S

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...

ea0031p318 | Steroids | SFEBES2013

Novel loci for familial autoimmune Addison's disease detected by linkage analysis

Mitchell Anna L , Boe Wolff Anette , Gan Earn H , MacArthur Katie , Erichsen Martina M , Weaver Jolanta U , Vaidya Bijay , Bensing Sophie , Husebye Eystein , Cordell Heather J , Pearce Simon H S

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...