Searchable abstracts of presentations at key conferences in endocrinology

ea0019p351 | Thyroid | SFEBES2009

Generalised resistance to thyroid hormone secondary to a novel heterozygous missense mutation with coincidental toxic nodular goitre

Pritchard G , Morris S , Wayte A , Chatterjee VKK , Halsall D , Wilton A

Generalised resistance to thyroid hormone (GRTH), a subset of the syndrome of resistance to thyroid hormone (RTH), is characterised by variable reduced target tissue responsiveness to circulating thyroid hormones. Plasma thyroid hormone levels are raised and TSH levels inappropriately non-suppressed. We describe a 54-year-old female with GRTH diagnosed from the finding of raised fT4 and fT3 levels coincidental with non-suppressed TSH levels. A thyrotropin (TRH) test resulted i...

ea0017oc15 | Diabetes 2 | BSPED2008

Extreme insulin resistance due to an insulin receptor mutation presenting as premature adrenarche evolving to polycystic ovarian syndrome in a non-obese girl

Wei C , Halsall DJ , O'Rahilly S , Semple R , Burren C

We report a non-obese 14-year old white female who initially presented to the paediatric endocrine service aged 7 years with adrenarche. She was born small for gestational age (2nd centile) but was otherwise developmentally normal with no significant past medical history. There was maternal history of polycystic ovarian syndrome (PCOS) but no family history of type 2 diabetes (T2DM). A GnRH test showed a pre-pubertal response and she was discharged after 1 year of follow-up wi...

ea0077p135 | Adrenal and Cardiovascular | SFEBES2021

Undetectably low blood aldosterone concentrations are prevalent in COVID-19 patients but poorly quantified by chemiluminescent immunoassay

Halsall David , Wiegard Martin , Goudie Robert , Taylor Kevin , Cowan Sarah , Prellor Jacobus , Gurnell Mark

Background: SARS-CoV-2 targets membrane-bound angiotensin-converting enzyme 2 (ACE2) to achieve cellular entry. Resultant loss of ACE2 function may lead to unregulated activation of the renin-angiotensin-aldosterone system (RAAS), contributing to the pathogenesis of hypertension and triggering a proinflammatory cascade. However, evidence to support this is conflicting, with either no change or an increase in the concentration of circulating aldosterone reported in patients wit...

ea0055p09 | Poster Presentations | SFEEU2018

Interesting unfolding of a case of refractory hypoglycaemia

Keat Cheah Seong , Mathews Abraham , Grant John , Halsall David , Seshadri Shyam , Krishnan Singhan

Case history: A frail 79 years old lady with dementia presented with frequent falls since 2 years ago. Neurologist’s assessment had attributed her fainting episodes to migraine. She later was found to have biochemically evident recurrent hypoglycaemia requiring multiple admissions and eventually continuous glucose infusion to maintain euglycemia.Investigations: The severe spontaneous hypoglycaemia in this non-diabetic lady prompted investigations. T...

ea0050cc04 | Featured Clinical Cases | SFEBES2017

Renin assay interference may conceal the diagnosis of primary aldosteronism

Powlson Andrew S , Oddy Sue , Halsall David J , Moran Carla , Gurnell Mark

Context: Primary aldosteronism (PA) accounts for 5–10% of all hypertension and 20–25% of refractory cases. Diagnosis is important as PA is associated with increased morbidity and mortality compared with ‘essential’ hypertension, and up to 50% of patients may benefit from unilateral adrenalectomy. Screening requires measurement of plasma renin activity (PRA) or concentration (PRC), and plasma aldosterone concentration (PAC), to yield an aldosterone:renin rat...

ea0050cc04 | Featured Clinical Cases | SFEBES2017

Renin assay interference may conceal the diagnosis of primary aldosteronism

Powlson Andrew S , Oddy Sue , Halsall David J , Moran Carla , Gurnell Mark

Context: Primary aldosteronism (PA) accounts for 5–10% of all hypertension and 20–25% of refractory cases. Diagnosis is important as PA is associated with increased morbidity and mortality compared with ‘essential’ hypertension, and up to 50% of patients may benefit from unilateral adrenalectomy. Screening requires measurement of plasma renin activity (PRA) or concentration (PRC), and plasma aldosterone concentration (PAC), to yield an aldosterone:renin rat...

ea0065p243 | Metabolism and Obesity | SFEBES2019

Mass spectrometric characterisation of circulating proinsulin-derived peptides in insulin autoimmune syndrome

Church David , Halsall David , Gribble Fiona , Reimann Frank , Semple Robert , Kay Richard

Autoimmune immunoglobulins directed against peptide hormones are well-described. These are often clinically benign, but may cause a deleterious effect on the accuracy of clinical immunoassays. A notable exception is Insulin Autoimmune Syndrome (IAS, also known as Hirata disease), where antibody-binding has a direct effect on insulin kinetics resulting in aberrant glucose control. Current methods to diagnose IAS rely on crude immune-subtraction techniques such as polyethylene g...

ea0059cc10 | Featured Clinical Cases | SFEBES2018

Thyroid hormone pattern in Familial Dysalbuminemic Hyperthyroxinemia (R218H mutation) on different assay platforms

Khoo Serena , Lyons Greta , McGowan Anne , Gurnell Mark , Oddy Susan , Halsall David , Chatterjee Krishna , Moran Carla

Introduction: Familial dysalbuminemic hyperthyroxinemia (FDH) is characterized by artefactual hyperthyroxinemia caused by enhanced binding affinity of thyroxine to the mutant albumin. However little is known about how FDH affects the measurement of thyroid hormones, especially FT3, across many assay platforms.Methods: Forty-eight genetically confirmed FDH patients (R218H mutation) had FT4 and FT3 measured with 1-step (ADVIA CENTAUR®, Siem...

ea0038p314 | Pituitary | SFEBES2015

Biochemical assessment of disease activity in acromegaly; a comparison of single GH, GH day series mean, OGTT nadir and IGF-1 in 51 patients

Arun Kirupakaran , Powlson Andrew S , Chaudhry Afzal N , Halsall David J , Gurnell Mark

Background: Accurate assessment of GH & IGF1 status in acromegaly is crucial for informing management to minimise excess morbidity/mortality. Expert panels have differed with respect to recommended testing modalities and thresholds – the most recent being the Endocrine Society 2014 guidelines. We evaluated their simplified algorithm, which minimises the need for day-case testing, against other more resource-intensive measures.Methods: A retrospe...

ea0037ep1290 | Clinical Cases–Thyroid/Other | ECE2015

Nephrogenic syndrome of inappropriate antidiuresis secondary to an activating mutation in the arginine vasopressin receptor AVPR2

Powlson Andrew S , Challis Benjamin G , Lagnado Alice , Halsall David J , Semple Robert K , Gurnell Mark

Case history: A 38-year-old man was referred with a 12-month history of recurrent bouts of transient hyponatraemia (serum sodium ranging from 115 to 125 mmol/l). Citalopram, which he was taking for depression, was discontinued, but the episodes continued.Initial investigations: Whilst symptomatic, and clinically euvolaemic, his biochemical profile was consistent with a syndrome of inappropriate antidiuresis (SIAD): sodium 124 mmol/l, potassium 4.5 mmol/l...