Endocrine Abstracts

Familial Benign Hypocalciuric Hypercalcaemia (FBHH) is a benign autosomal dominant condition characterised by elevated serum calcium and parathyroid hormone (PTH) and low urine calcium. It is a genetically heterogeneous disorder but the majority of cases (type 1 FBHH) can be shown to be due inactivating mutations in the Calcium Sensing Receptor (CASR). This is a guanine nucleotide-binding-protein (G-protein) coupled receptor that signals through the G-protein subunit α11 ...

A 30 year old woman presented with two year history of right lower leg pain. The pain was constant, worse in cold weather, not worsened by weight bearing and occasionally woke her from sleep. On examination she was tender on palpation of mid distal right tibia. X ray showed sclerotic portions of right tibia and fibula. MR lower right leg demonstrated extensive area of intramedullary bone marrow oedema in the distal half of the right tibia with associated cortical thickening an...

Introduction: Primary skeletal muscle lymphomas are extremely rare, accounting for less than 1% of extra-nodal lymphomas.1 Hypercalcaemia is a common reason for admission to hospital. There are four main mechanisms by which neoplasms can cause hypercalcaemia; secretion of parathyroid hormone-related peptide, osteolytic metastases, (rarely) ectopic PTH secretion, and expression of 1 alpha hydroxylase, causing excess activated vitamin D and gastrointestinal absorption...

A 77 year old female was referred to endocrinology with an incidental finding of hypophosphataemia (0.26 mmol/l) on routine bloods. She described a slight unsteadiness on her feet, but denied bone pain or overt muscle weakness. Past medical history included Type 2 Diabetes Mellitus, a left humeral fragility fracture and the subsequent diagnosis of osteoporosis 2 years previously. At presentation the corrected calcium was slightly elevated (2.64 mmol/l), which normalised when r...

Clinical Case: A 27 year-old primigravida was referred for gynaecology assessment after her 12 week booking ultrasound scan showed a multiloculated cystic mass in the Pouch of Douglas. She reported fatigue, dry skin and constipation for several months. She had no past medical history and took no regular medications. She had conceived naturally, and her periods were previously regular. There was a family history of hypothyroidism in her sister. She emigrated from India 3 years ...

Introduction: Primary hyperparathyroidism (PHPT) affects 0.3% of the population. It is characterised by hypercalcaemia with an inappropriately high parathyroid hormone level. The majority of patients with primary hyperparathyroidism are asymptomatic and are diagnosed following an incidental finding of hypercalcaemia. Symptomatic disease is related to hypercalcaemia and can present with complications such as renal calculi and osteoporosis. Parathyroidectomy is the treatment of ...

A 29-year-old man of South Asian descent presented with pancreatitis. Adjusted calcium was 3.10 mmol/l and PTH 9.8 μmol/l. Of note was that his parents were first cousins, and a cousin had undergone parathyroidectomy for hypercalcaemia.Pituitary, adrenal and thyroid function, calcitonin, prolactin, phosphate, magnesium, alkaline phosphatase and urinary catecholamines were all normal. 25-Hydroxyvitamin D was 20 nmol/l (15–100) The patient was th...

Introduction: Denosumab is a human monoclonal antibody against the receptor activator of nuclear factor-kB ligand, to reduce bone resorption by limiting maturation of osteoclasts. It has been approved for use in Scotland in patients with a bone mineral density (BMD) T-score of between −4 to 2.5 who are unable to take bisphosphonates. We aimed to analyze the effects of denosumab on BMD and fracture rate in a cohort of patients who have completed a 3-year cycle of...

Introduction: BONJ is a recognised complication of bisphosphonate treatment (both oral and intravenous). Data are sparse with the reported incidence of BONJ in the oral treatment of osteoporosis between 0.01% to 0.067% or alternatively described as 1.04 to 69 per 100,000 patient-years. This study aimed to estimate the incidence of BONJ in patients taking oral bisphosphonates as a treatment for osteoporosis.Methods: Forth Valley Hea...

A 54-year old female presented with fluctuating consciousness and seizures 4-weeks after gastric sleeve surgery. On admission blood glucose was 1.1 mmol/l, GCS was 10 and she was tachycardic. Examination was otherwise unremarkable. Her GCS improved after Glucagon and Glucogel. She described episodes of disorientation, slurred speech, fatigue and dysthesia since her surgery. These occurred particularly in the morning and her symptoms impro...