Endocrine Abstracts

Clinical guidance recommends titrating the dose of metyrapone against serum cortisol concentrations. These serum samples are usually measured by immunoassays; however it has been well documented that there are interferences in these assays in patients with altered steroid metabolism due to a pathological process or drug treatment. The increasing availability of mass spectrometry (MS) assays for steroid hormones may circumvent this issue and assays that measure multiple steroid...

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...

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...

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...

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...

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...

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...

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...

Background: Thyrotropinomas (TSHomas) are traditionally considered a rare albeit important cause of thyrotoxicosis, accounting for ∼1% of all pituitary adenomas. Although early case series reported a preponderance of macroadenomas, emerging evidence suggests microadenomas are being increasingly diagnosed. In addition, the clinical/biochemical phenotype appears to be more variable than previously suspected. We therefore examined the clinical, metabolic, biochemical and ra...

Resistance to thyroid hormone (RTH) is usually due to heterozygous mutations in THRB gene with rare cases being homozygous for receptor defects. We describe an RTH case due to a homozygous TRβ mutation (R243Q).The Proband (male, 8.4 years), was born at term with low birth weight (1.9 kg) to consanguineous parents. He has a prominent nasal bridge, goitre, low body weight (10th centile), recurrent tonsillitis, hyperactivity and has mild hearing impair...