Endocrine Abstracts

Familial Hypocalciuric Hypercalcaemia (FHH), originally described in 1966, was first linked to mutations in the Calcium-Sensing Receptor (CaSR) gene in 1993. FHH results from inactivating mutations affecting a single allele inherited in an autosomal dominant pattern. The calcium-sensing receptor is a cell surface-expressed G protein-coupled receptor with 1078 amino acids. Gene mutations are usually single-point in nature and result in an elevated set point for calcium sensing ...

A 27 years old primigravid lady presented with nausea and recurrent vomiting at 35 weeks gestation. She was diagnosed with hyperemesis gravidarum at 5 weeks gestation. TPN was commenced but she continued vomiting. On examination, foetal size was normal for gestational age, BP was 105/70 mmHg. Electrolytes were normal except potassium of 2.7 mmol/l, LFT was normal, albumin 29 g/l and uric acid 307 umol/l. 16 days after admission, she rapidly deteriorated with weakness and plasm...

The factors affecting counterregulatory (CR) responses to hypoglycaemia in T2DM remain uncertain. Previous studies have suggested an effect of glycaemic control on CR responses in T2DM. Little data exists on the effect of treatment with metformin (MET) vs. Sulphonylurea (SUL) on the CR responses to hypoglycaemia in T2DM.To date, we have performed stepped hypoglycaemic hyperinsulinaemic clamp studies (2-4 mU/kg/min) on 5 subjects treated with MET (Age 50....

Little is known on the impact of acute COVID-19 infection on causation of diabetes. We report on a 36 years old man from Nigeria who presented with diabetic ketoacidosis (DKA) with typical osmotic symptoms of polyuria and polydipsia, fatigue and weight loss over 2 weeks. He tested positive for SARS-COV2 by PCR. The initial laboratory results: Random glucose 30.6 mmol/l, capillary blood ketones 7.4 mmol/l, pH 7.22, bicarbonate 7.5 mmol/l. Despite insulinopaenic state, at presen...

A 28 years old lady presented at 21 weeks gestation with bipedal oedema and 4 week history of easy bruising and weakness and aching of the thighs. She had no significant past medical history and had prior uneventful pregnancy 17 months previously. On examination she was hypertensive (180/100 mmHg), had puffy face, prominent abdominal striae and bilateral leg oedema. Serum potassium was 2.6 mmol/l and random plasma glucose was 8.6 mmol/l. OGTT confirmed gestational diabetes and...

All adolescent and young adult T1DM attending our clinic, based in a university teaching hospital are reviewed three monthly and receive individual advice from dietician, nurse educator and consultant diabetologist at each visit. We aimed to identify deficits in diabetes related knowledge and assess diabetic control in this population.Subjects were asked to complete ADKnowl(Audit of Diabetes Knowledge) Questionnaire. Demographic data and measures of glyc...