Endocrine Abstracts

Background: PHID is a novel syndrome caused by mutations in SLC29A3, which encodes for the nucleoside transporter protein hENT3. It is associated with multiple endocrine manifestations including severe short stature, pubertal delay and pancreatic exocrine insufficiency. Mutations in SLC29A3 have also been linked to H syndrome and familial Rosai Dorfman Disease (RDD). A key feature of these syndromes is persistent inflammation. Currently there is no treatment for ...

Introduction: Older patients with diabetes mellitus often have concomitant comorbidities and physical disabilities which may lead to poor quality of life. The present diabetic guidelines available to clinicians in their practice suggest aggressive and meticulous diabetic control for target HbA1c (<7%). This is aimed at delaying or preventing complications. Such practice may predipose majority of older patients to experience recurrent hypoglycaemic epidodes and therefore co...

We present a 59-year-old lady referred to us with worsening fatigue, arthralgia and dizziness over several years. Other symptoms included sleep disturbance, headaches, occasional palpitations and sore eyes. There was no family history of thyroid illness. Her medications included Vitamin B, Vitamin C, Hi 5 vitamin supplement, calcium, and zinc. On further questioning, she was taking kelp supplement (2 tablets per day) as recommended by a nutritionist, for treatment of ‘slu...

Background and aims: Antithyroid medications are first line treatment for thyrotoxicosis in the UK. The risk of agranulocytosis is ~1:2000 cases. Between 1963 and 2003, 809 adverse reactions related to antithyroid medications were reported. Of these 179 were due to agranulocytosis. Forty-two fatal events were recorded and half of these were related to agranulocytosis.Patient awareness is vital in preventing drug associated morbidity and mortality. We con...

A 59-year-old lady with headaches and malaise was found to be hypertensive with a blood pressure (BP) 210/105. An MRI brain revealed a haemorrhagic lesion in the right temporal lobe. There were no other signs of end organ damage. Her medications included atenolol 25 mg OD, ramipril 10 mg OD and bendroflumethiazide 2.5 mg OD. It transpired that she has been drinking 5 cups of liquorice tea per day over the last 18 months. Following a vomiting illness she stopped liquorice tea c...

A 69-year-old man with longstanding ulcerative colitis presented for annual review by the gastroenterologists. He complained of lower back pain for six months and a recent history of anorexia, constipation, thirst and urinary frequency.His serum calcium was 5.12 mmol/l, phosphate 1.77 mmol/l, urea 19.1 mmol/l and creatinine 252 μmol/l.He was admitted, rehydrated with 5 l of intravenous normal saline over 24 h and given pamidro...

Pseudohypoparathyroidism type 1b is a disorder of calcium metabolism resulting from renal resistance to PTH, the genetic basis caused by abnormal imprinting and thus expression of the gene encoding the Gs alpha-subunit (GSα) of the stimulatory G protein.For patients with PHP 1b, pregnancy raises issues regarding management of calcium and vitamin D homeostasis as well as more difficult aspects such as genetic counselling.<p class="abst...

A 79-year-old lady presented with a 6 months history of confusion and slurred speech and was found to have recurrent spontaneous hypoglycaemia (plasma glucose 1.3, 1.8 and 2.6 mmol/l). Pituitary and adrenal function were normal, and raised insulin (102 pmol/l) and C-peptide (630 pmol/l) levels confirmed the diagnosis of insulinoma, which was identified as a solitary 2 cm mass in the head of pancreas. Treatment with diazoxide 100–150 mg tds led to normalisation of g...

We present the case of assumed ectopic GHRH from residual bronchial carcinoid on the basis of an elevated serum GH, an elevated IGF-1 impaired glucose tolerance and an acromegalic appearance. The patient was diagnosed with a left bronchial carcinoid in 1985, aged38 years. Treated with a left pneumonectomy. She remained well until she presented in 1994 with an oesophageal variceal bleed. She had no evidence of portal hypertension or liver disease. CT chest revealed a mediastina...

A 71-year-old man with carcinoma of prostate and bony metastasis, presented with acute bradyarrhythmia, severe hypocalcaemia and acute renal failure 72 h after intravenous infusion of zoledronate. Before therapy, serum calcium was 2.14 mmol/l (normal, 2.10–2.55 mmol/l), serum phosphate 1.4 mmol/l (normal, 0.8–1.5 mmol/l), serum creatinine 95 umol/l and eGFR 74 ml/min. 25OH vitamin D was not measured. Three days later he presented with a syncopal episode. Initial bloo...