Endocrine Abstracts

The high prevalence of vitamin D deficiency has increasingly become recognised as a problem for patients living in temperate regions. There has been considerable controversy regarding the optimal level of vitamin D nutrition and the means by which vitamin D should be replaced. The National Osteoporosis Society with the support of several other national groups including the Society for Endocrinology prepared guidelines on the diagnosis and management of vitamin D deficiency whi...

Primary hyperparathyroidism (PHP) is one of the most common endocrine diseases; it is frequently found in asymptomatic patients when there is some doubt as to the appropriate choice of surgery (PTX), medical therapy or watchful waiting. These decisions are generally based on the consensus guidelines produced by the NIH however there is concern that these reflect established medical/surgical practice in the USA as much as clinical evidence. What evidence that does exist is freq...

Hypercalcaemia is the commonest endocrine complication of malignant disease. In most cases the underlying cause is a combination of excessive bone resorption and increased tubular reabsorption of calcium brought about by the effect of the onco-feto protein parathyroid hormone related protein (PTHrP). Other causes of hypercalcaemia of malignancy include direct interaction of malignant cells with bone; this is most commonly seen with haematological malignancies where there is st...

A 45-year old lady admitted to hospital in October 2018 with generally unwell and nausea. She has a background of disseminated T.B. confirmed by EBUS with bronchoalveolar lavage in September 2018. She had previous CT thorax, abdomen and pelvis in September 2018 which was reported as extensive lymphadenopathy with omental and peritoneal thickening. She also has a history of vitamin D deficiency in August 2018 at 7.1 nmol/l and was treated with oral colecalciferol. The biochemic...

17 years lady presented with a fall onto her left knee, following which she continued to have severe persistent pain and occasionally her knee gave away with intermittent “locking”. A referral to metabolic bone disease clinic was made as the left knee X-ray showed discreet spherical areas of increased radiological density with normal CT and MRI scans of the left knee. Physical examination was unremarkable. Her brother was under investigation for lumps under skin. Mor...

There is concern about the effects of long-term bisphosphonate use. A ‘treatment holiday’ is now considered after 5 years but there is no evidence as to the best way in which to monitor this.Aim: To look at the effect that a ‘treatment holiday’ has on the bone turnover marker, amino-terminal propeptide (P1NP) and bone mineral density (BMD).Methods: A retrospective case note review of 55 patients currently underg...

Background: Parathyroid crisis is a rare presentation with high mortality if unrecognized. Early surgery is curative with rapid symptom resolution and improved outcomes.Case Report: We describe a case of severe hypercalcaemia due to primary hyperparathyroidism in a 59 year old male who presented with symptoms of lethargy, confusion, reduced appetite, constipation, light headedness and vomiting. Clinical examination was unremarkable. He had normal inflamm...

Introduction: Hypercalcaemia secondary to malignancy is rare in children. PTH-rP secreted by malignant cells increases bone resorption and renal calcium retention causing hypercalcaemia. We report a case of hypercalcaemia refractory to bisphosphonate and corticosteroid therapy, but responsive to treatment with Denosumab.Case report: A 17-year-old boy with epidermolysis bullosa presented with advanced squamous cell carcinoma of the left leg and symptomati...

PRIMARA is the first observational study to describe the demographic and clinical profiles of adults with primary hyperparathyroidism (pHPT) receiving cinacalcet in daily clinics across European countries.Patients with pHPT aged ≥18 years without prior cinacalcet treatment were eligible. Initial cinacalcet dosage and subsequent dose changes were at the investigator’s discretion. Information on dosing, biochemistry and adverse drug reactions (A...

Familial hypocalciuric hypercalcaemia types 1, 2, and 3 (FHH1, FHH2, and FHH3) are caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), G-protein subunit α11 (Gα11) and adaptor protein 2 sigma subunit (AP2σ), respectively; whilst autosomal dominant hypocalcaemia types 1 and 2 (ADH1 and ADH2) are due to gain-of-function mutations of CaSR and Gα11, respectively. We therefore hypothesised that gain-of-function AP2σ mutations may re...