Endocrine Abstracts

Background: Mutation in the CYP24A1 gene can have variable phenotypes including infantile hypercalcemia and adult-onset hypercalcemia, hypercalciuria, nephrocalcinosis, or nephrolithiasis. CYP24A1 gene mutation is a rare but important cause of PTH-independent hypercalcemia.Case Presentation: We describe a case of a 67-year-old gentleman who presented with lethargy, fatigue and weight loss. He was found to have PTH-indepe...

Hypoglycaemia is a common side effect of insulin treatment in patients with type 1 diabetes mellitus (T1DM). A 16-year old girl with T1DM presented with a recurrent hypoglycaemia, despite insulin dose reduction. Differential diagnosis included: overdose of insulin, Addison’s disease, hyperthyroidism, insulinoma and anti-insulin antibodies. She was admitted to the hospital for observation and investigations. She had a low random cortisol level, leading us to start steroids...

Primary hyperparathyroidism is a common endocrine condition; 80% due to a parathyroid adenoma. We present an unusual case of a 69-year old white European female, who presented first in 2012 with mild hypercalcaemia (< 2.8 mmol/l), osteoporosis, hypertension and type 2 diabetes. Pharmacotherapy included Bendroflumethiazide, but no phosphate supplements. Investigations revealed primary hyperparathyroidism and dual-modality scanning showed no evidence of an adenoma, although ...

A 25 year old Afghan male presented with a 4 day history of worsening left-sided loin pain. He had a past history of deafness since birth, speech problems and development delay. Bilateral renal calculi and widespread multiple well defined lytic lesions (likely brown tumours) were seen on CT-KUB. The corrected calcium was 3.21 mmols/l, PTH 80 pmol/l, Vitamin D 25 nmol/l, phosphate 0.49 mmols/l, ALP 960 IU/l and fractional calcium excretion was 0.16. His skull X Ray/OPG, done du...