Endocrine Abstracts

An 18 year old gentleman was first reviewed in our endocrine adolescent transition clinic. He had been under the care of the paediatricians since birth, where he initially presented with developmental delay. This triggered investigations which led to the diagnosis of septo-optic dysplasia. At aged 12 he developed cranial diabetes insipidus (DI) and secondary hypothyroidism. This was managed with intranasal DDAVP (20 ug BD) and thyroxine 125 μg. Due to an abnormal thirst t...

A 54-year-old gentleman presented with increased urinary frequency, urgency and nocturia. His GP treated him for benign prostatic hypertrophy with tamsulosin. When this failed to alleviate his symptoms he was referred to urology. Investigations revealed he was drinking in excess of 6 litres of fluid per day, hence he was referred to endocrinology.Aside from a 6-month history of polyuria and polydipsia, there was no history of previous head injury, headac...

Case history: A 46-year-old headmaster with a 10-year history of hypertension presented with a BP of 164/116 mmHg on four antihypertensive drugs. He had occasional headaches, chest ‘aches’, and described one syncopal episode after an ‘exhausting rowing session’. A low plasma renin (routinely measured in our resistant hypertensives) and 26/20 mmHg fall in BP on changing hydrochlorothiazide to amiloride, led to investigations for primary aldosteronism (PA).</...

Introduction: Primary aldosteronism (PA) accounts for 5-10% of patients with hypertension. Approximately 40-50% of cases are bilateral, usually managed using mineralocorticoid receptor antagonists (MRAs). Recent literature suggests a higher risk of renovascular disease and cardiovascular events in PA patients treated medically, compared to those with essential hypertension. This excess risk is mitigated in individuals with unilateral disease managed surgically...

A 69-year-old retired pharmacist was referred to our endocrine clinic with an incidental finding of hypokalaemia noted during recent spinal fusion surgery. He has been hypertensive for 6 years. His blood pressure was well controlled on Diltiazem 240 mg and Doxazosin 4 mg, but required 8 tablets of SandoK daily to maintain normokalaemia. His past medical history includes type 2 diabetes, diabetic retinopathy, chronic kidney disease, hypercholesterolaemia and benign prostatic hy...

Case History: In 2011, an asymptomatic 63-year-old professor was found to have isolated hypokalemia. He was normotensive and his only past medical history was hypercholesterolaemia. Investigations were suggestive of Primary Hyperaldosteronism (PHA): aldosterone 1055 pmol/L, renin mass 10 mU/L, Na+137 mmol/L, K+3.2 mmol/L, bicarbonate 31 mmol/L. A CT scan was reported as normal, but a 12mm nodule was subsequently noted contiguous with the left adrenal. A m...

Case History: A 57-year-old lady was referred with a 6-year history of hypertension and hypokalaemia necessitating hospital admission. Her medical background included breast cancer managed with chemotherapy, radiotherapy and surgery. She required Eplerenone 50 mg OD and Amlodipine 5 mg to control her hypertension, and Sando-K 2 tablets TDS to maintain normokalaemia. The patient was enrolled into the MATCH trial comparing adrenal vein sampling (AVS) with [11C]-metomi...

Case history: A 39-year-old gentleman was referred to the Endocrine clinic with a 5-year history of hypertension and intermittent hypokalaemia. He had been seen in the hypertension clinic, screened for secondary causes, and found to have an aldosterone of 604 pmol/l, renin <0.2 nmol/l/hr and potassium 3.7 mmo/l (off interfering medication), in-keeping with a diagnosis of Primary Aldosteronism (PA). His blood pressure was 126/82 mmHg on Ramipril 10 mg, Amlodipine 5 mg OD an...

Case history: A 74-year-old gentleman with primary aldosteronism (PA) was referred for the ‘MATCH’ study – a prospective comparison of 11C-metomidate PET CT with adrenal vein sampling. He took no exogenous steroids.Investigations: Na 147 mmol/l, K 3.7 mmol/l, aldosterone 496 pmol/l, renin activity <0.17 nmol/l per h, random cortisol 247 nmol/l and concomitant ACTH 9.3 ng/l. Two overnight dexamethasone suppression tests recorded values ...

Objective: We reported 3 patients with primary aldosteronism who presented at times of high plasma LH, and had somatic CTNNB1 mutations causing ˜100-fold elevation of LHCGR in their APAs (Teo et al. NEJM 2015). Subsequently we identified 4 further patients, but the association with pregnancy was not found by others. Whole exome sequencing (WES) of an APA diagnosed at onset of puberty suggests an explanation.Method: WES of tumour and blood w...