Endocrine Abstracts

Acute pancreatitis is a common etiology of acute abdominal pain, it has multiple causes including hypercalcemia. It is a rare manifestation of primary hyperparathyroidism, reported only in 3-15% of cases which can lead to a diagnostic and therapeutic delay. This is a case of a 76-year-old patient who presented with acute CTSI-3 pancreatitis and severe hypercalcemia at 153.09 mg/l (3.82 mmol/l). Despite the regression of the signs of pancreatitis with treatment, his general con...

In 2022, the 5-year prevalence of thyroid cancer in Romania was 2.1/100.000. Differentiated thyroid cancer (DTC), the predominant form, often necessitates surgery and TSH suppressive therapy (TST). If severe and prolonged, this may accelerate bone remodelling, resulting in osteoporosis and increased fracture risk. This retrospective study aimed to assess the impact of TST on bone metabolism in a cohort of DTC patients. We analyzed: age, menopausal status, degr...

Iatrogenic remission of Primary Hyperparathyroidism (PHPT) is a rare phenomenon. We report a unique case of PHPT remission post FNAC. A 64-year-old gentleman was referred to endocrine clinic with incidental finding of hypercalcemia (Adjusted calcium 2.77 mmol/l and PTH 8 pmol/l). He was diagnosed with PHPT and was a candidate for surgical intervention. Sestamibi scan and ultrasound parathyroid were done to localise the adenoma. However, these two scans had conflicting results....

G-protein coupled receptors (GPCRs) are transmembrane proteins whose surface expression and extracellular activation make them desirable drug targets. Approximately 35% of approved drugs target GPCRs, including osteoporosis treatments such as Teriparatide. Despite the ageing population resulting in increased osteoporosis diagnoses, current treatments lack long-term efficacy, highlighting the need to identify new drug targets. Using RNA-sequencing we identified multiple GPCR ge...

Introduction: There is variation in Paget’s disease occurrence in different regions/populations. We looked at Paget’s occurrence (GP-coded diagnosis) in a large UK urban conurbation and explored the influence of age/gender/ethnicity on occurrence. We also looked at the impact of Paget’s disease on the severity of COVID-19 infection.Methods: We undertook an anonymised search using an integrated primary/secondary care-based database in Great...

Pseudohypoparathyroidism (PHPT) is a very rare disorder characterised by a lack of response to parathyroid hormone at the level of the proximal tubule. In the absence of the classical features of Albright Osteodystrophy, the diagnosis can be missed. We present two cases of type 1B PHPT. The first case was of a 39 year old man presenting with non-specific abdominal symptoms and was found to have a corrected calcium of 1.89 mmol/ (2.21-2.52 mmol/l) with a paired PTH of 734pg/ml ...

Introduction: Primary hyperparathyroidism (PHPT) involves excessive secretion of parathyroid hormone (PTH), leading to elevated serum calcium levels. Ectopic parathyroid adenomas, constituting 10-22% of cases, arise due to abnormal embryonic migration and can be located from the mandible to the pericardium. This complicates their localization and diagnosis. Parathyroidectomy, with a success rate over 90%, remains the treatment of choice. This case report discusses the diagnost...

Objectives: Improving the management of chronic hypoparathyroidism is crucial for enhancing the quality of life and reducing morbidity and mortality. Our audit assessed the effects of introduction of a dedicated specialist nurse led hypoparathyroidism clinic.Methods: During 2022 we developed an SOP and undertook training to enable the provision of an endocrine specialist nurse led chronic hypoparathyroidism clinic. The clinic commenced in November 2022 p...

Williams-Beuren syndrome (WBS) is a rare multisystem genetic disorder, with an estimated prevalence of 1:7500 live births. WBS is characterised by distinctive facies, mild intellectual disability, cardiovascular disease, and endocrine disorders including hypothyroidism, hypercalcaemia, and diabetes. Hypercalcaemia is seen in 5 to 50% of individuals with WBS. It is usually identified in infancy and resolves during childhood. The first case report of WBS with primary hyperparath...

Background: Fragility fractures lead to considerable societal costs and individual suffering. Despite the availability of cost-effective treatments for high-risk patients, a significant treatment gap exists, with many high-risk individuals remaining unidentified and untreated. The aim of this study was to evaluate the cost-effectiveness and impact of opportunistic screening for bone health with IBEX BH, a software solution that provides areal bone mineral density from wrist Di...

Background: Calcitriol-induced hypercalcemia is uncommon posing diagnostic dilemma. This case report describes a patient with severe hypercalcemia due to granulomatous changes around a polyethylene wear hip prosthesis.Case Report: An 80-year-old woman presented with hypercalcemia and stage 3 acute kidney injury. Serum calcium was 3.9 mmol/l, Parathyroid hormone 0.2 pmol/l(1.3 - 9.3), confirming PTH-independent hypercalcemia. CT and MRI imaging, tumor mar...

Local and national guidelines for post- hip fracture bone protection in an elderly population, advise vitamin D replacement and IV bisphosphonate. We report the case of an 82 year old man who underwent left hemiarthroplasty after low-trauma neck of femur fracture. He received a loading dose of Vitamin D (150,000 units over six days) and followed by IV Zolendronic Acid 5 mg on day nine of admission. On admission the serum calcium was elevated (2.63 mmol/l), on repeat it was wit...

Relative Energy Deficiency in Sport (RED-S), a potential consequence of low energy availability (LEA) can impact athletic health and performance. Bone health, growth and development can be adversely impacted. The 2023 International Olympic Committee Consensus Statement on RED-S recommends assessment for impairment of bone health, growth and development with DXA scanning and measurement of growth hormone (GH) and insulin-like growth factor 1(IGF-1). We aim to investigate if eli...

Background: Vitamin D insufficiency and low bone mineral density (BMD) are common in primary hyperparathyroidism (PHPT). The relationship between Vitamin D status and parathyroid bone disease is worthy of investigation.Aim: Our aim was to review the medical management of PHPT in an Irish university hospital and perform a sub-group analysis on people with low BMD and vitamin D insufficiency – serum 25OH vitamin D <75 nmol/l (Evaluation and Manage...

Autoimmune pulmonary alveolar proteinosis (aPAP) is a disease whereby antibodies to granulocyte macrophage colony stimulating factor (GM-CSF) cause dysfunction of alveolar macrophages, leading to surfactant accumulation and respiratory failure. GM-CSF has a role outside the lung; promoting fusion of prefusion osteoclasts into multinucleated osteoclasts capable of bone resorption. Osteopetrosis is a disorder of reduced osteoclast function, causing failure of osteoclast-mediated...

Pseudohypoparathyroidism is a group of rare genetic disorders characterised by end organ PTH resistance in the body. It is a rare cause of hypocalcaemia. We present the case of a thirty-eight-year-old lady with no past medical history who presents for the first time to her general practitioner for a general check up and is incidentally found to have hypocalcaemia with a level 1.70 mmol/l. She was referred to hospital for the work up and treatment and was found to be hypocalcae...

Background: Body composition parameters might be determinants of bone strength and we aimed to investigate the relationship between body composition variables and surrogate parameters of spine and hip bone quality.Patients and methods: 235 patients with overweight or obesity (mean age= 50.12±14.2 years, mean BMI =35.04 ± 6.65 kg/m2) were included. DXA whole-body scans were conducted, using a DEXA Prodigy®, GE machine. Measur...

Introduction: Osteoporosis is a significant health concern in Ireland, with 6.2% of men and 20% of women over 50 affected in 2021. Vertebral fractures, the most common type of osteoporotic fracture, often go undiagnosed, with 70% remaining undetected. Vertebral Fracture Assessments (VFAs) during routine DXA scans enable early detection of low bone density and timely intervention, using low doses of ionising radiation. The International Society for Clinical Densitometry (ISCD) ...

Introduction: Granulomatous myositis (GM) is a very rare inflammatory condition and can cause PTH- independent hypercalcemia. The hypercalcaemia is due to the elevated levels of extrarenal 1,25 dihydroxy vitamin D produced by activated macrophages due to granulomatous inflammation. We present a case of very severe hypercalcemia due to GM.Case presentation: An 82-year-old lady presented to the emergency department due to deterioration in renal function an...

Familial hypocalciuric hypercalcaemia consists of 3 subtypes which are all inherited in an autosomal dominant manner and caused by inactivating mutations. FHH type 1 is most common (>65%) and is due to mutation in the calcium sensing receptor gene (CaSR), FHH2 due to GNA11 mutation and FHH 3 due to AP2S1 gene mutation (has been found in both kindreds from Oklahoma and Northern Ireland). FHH results in hypercalcaemia and hypocalciuria. It is usually asymptomatic, requiring ...