Endocrine Abstracts

Background: Volumetric absorbent microsampling (VAMS) provides a less intrusive alternative to venepuncture when collecting blood samples for diagnostic testing. A small, precisely determined amount of capillary blood from a single finger-prick is absorbed into a medium for storage, from which it can later be extracted and analysed. In this study, we developed methods to measure four commonly requested endocrine/bone biomarkers for finger-prick blood samples analysis, and inve...

A frail, long-term surgical inpatient, was under-nourished on TPN. He had a tendency towards hypocalcaemia and was under regular review by the surgical and nutrition team. It was noted on his routine monitoring that his Ca had fallen to 1.78 mmol/l (2.2-2.6 mmol/l). He was reviewed out-of-hours and prescribed 10mls of 10% Calcium Gluconate infused over 10 minutes, as per the hospital guidance for the treatment of hypocalcaemia. A further prescription of calcium gluconate 10% i...

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...

Case history: A 55-year-old man presented to the Emergency Department with worsening breathlessness 11 days after testing positive for severe acute respiratory syndrome coronavirus 2 (SARS CoV 2). He reported ongoing diarrhoea, starting 1 week prior to the SARS CoV 2 infection. He was previously fit and well, on no regular medication. All clinical observations within normal limits and there were no significant examination findings.Results and treatment: ...

Primary hyperparathyroidism causing symptomatic hypercalcaemia is often encountered in clinical practice. However, hyperparathyroid crisis is a rare and potentially fatal presentation of primary hyperparathyroidism characterised by profoundly symptomatic hypercalcaemia, altered mental status, and cardiac and renal dysfunction. Recognising the need for rapidly controlling hypercalcaemia with aggressive medical therapy and definitive management with early parathyroidectomy are n...

Introduction: Vitamin D (Vit D) is required for maintaining optimal bone health and there is widespread campaign in the media for its use. There is however lack of awareness among the general public about therapeutic doses which if exceeded can result in harm. We present one such patient who was taking harmful quantities of vit D supplements procured over the internet which resulted in hypercalcaemia and renal failure.Case Description: 50year old lady, N...

Background: Genetic causes of hypocalcaemia can be overlooked in patients presenting without apparent syndromic features. One such example is DiGeorge syndrome, which is often diagnosed in childhood but rarely in adulthood.Case presentation: A 21-year-old lady was referred to our endocrinology clinic regarding chronic hypocalcaemia (adjusted calcium 1.98 mmol/l). This was first diagnosed at the age of eight with no clear cause identified. Her past medica...

Background: The Ultrasonography (USS) and Tc-SestaMiBi (MiBi) scans are established tests to localize parathyroid adenoma. It is important to utilize these appropriately prior to surgery for a positive outcome.Method: It was a retrospective study in patients diagnosed with primary hyperparathyroidism (PHPT) according to the NICE Guideline who underwent parathyroidectomy from 01/01/2015 to 31/12/2019. We aimed to assess the USS and Tc-Sestamibi scan’...

Introduction: Milk-alkali syndrome is characterized by the triad of hypercalcaemia, metabolic alkalosis, and acute kidney injury and occurs due to excessive use of elemental calcium. Despite the widespread use of proton pump inhibitors, it is the third most common cause of hypercalcaemia after primary hyperparathyroidism and malignancy.Case presentation: A previously normocalcaemic 33-year-old patient presented at 34 weeks gestation, feeling non-specific...

Autosomal dominant hypoparathyroidism (ADH) is caused by gain-of-function mutations in the calcium-sensing receptor (CaSR), increasing its sensitivity to extracellular calcium, suppressing PTH and resulting in hypocalcaemia. In contrast to idiopathic hypoparathyroidism, treatment to correct serum calcium results in high urine calcium excretion, causing nephrocalcinosis, stones and renal impairment. Unlike surgical hypoparathyroidism where calcium should be maintained, patients...

We report a 32-year-old primigravida with type 2 diabetes and large uterine fibroid who was found to have incidental, asymptomatic, non-PTH driven hypercalcaemia of 2.67 mmol/l (NR 2.2-2.60 mmol/l) at 7 weeks gestation. Investigations revealed no evidence of malignancy. Interestingly, following initial blood test, her calcium normalised but with persistent complete suppression of PTH until 19 weeks gestation, when her calcium rose to 3.25 mmol/l. Her 1,25-dihydroxy Vitamin D w...

A 32-years-old lady was admitted with raised calcium. She had palpitation, sweating, 3 stones weight loss and neck swelling. She was diagnosed with Graves’ disease 5 months ago. Her mother had history of thyroid disease but no family history of hypercalcaemia. She had a small goitre and lid lag on examination. On admission, adjusted calcium was 3.04 mmol/l. PTH was < 0.5 pmol/l. Phosphate, vitamin-D, kidney functions, cortisol, myeloma screen and ACE levels ...

We present an interesting case of immobilisation hypercalcaemia. Case: A 22-year-old female with no significant past medical history was admitted following a road traffic accident (RTA). She suffered severe abdominal injury, skull and multiple limb fractures and underwent left below-knee amputation, bowel resection and nephrostomy. The admission to ITU was prolonged, and seven weeks into the admission, she developed hypercalcaemia (adjusted calcium: 3.8, N: 2.2 – 2.6 mmol...

There are currently no robust methods for screening patients at risk of developing osteoporosis. Women tend to be more susceptible to low bone mineral density (BMD), whether its genetic, disease related, or menopausal and osteoporosis can also affect men. Access to dual energy x-ray absorption units (DEXA), is scarce and waiting lists are long. This has been exacerbated by the pandemic and the growing referral lists for radiology services. The burden of the disease processes i...

Introduction: Pheochromocytomas and paragangliomas(PPGLs) are catecholamine-secreting tumors. Catecholamine excess contributes to bone resorption and secondary osteoporosis. PPGLs are treated surgically but limited data exists on the subsequent effect on bone status.Aim: To evaluate bone metabolism(BM) and bone mass density(BMD) before and after successful surgery of PPGLs.Methods: A retrospective study on (BM) of (PPGLs) patients ...

Background: Parathyroid adenomas form a major proportion (80-85%) of the causative pathology in primary hyperparathyroidism (PHPT) followed by hyperplasia (10-15%) and cancers <1%. The only definitive treatment option for PHPT is surgery.Aim: To determine the pickup rate and correlation of the imaging modalities (ultrasound (US) and Sestamibi (MIBI)) with histological diagnosis of parathyroid adenomas in patients with PHPTMetho...

Parathyromatosis is a persistent or recurrent hyperparathyroidism following parathyroidectomy. It usually presents as multiple nodules in the neck. Infrequently may present as a single palpable neck mass. It could be due to low grade malignancy, seeding of parathyroid tissue during parathyroidectomy and growth of persistent embryonic foci of parathyroid tissue. A 24-year-old patient presented with features of hypercalcaemia. She has undergone left inferior parathyroidectomy 1 ...

Introduction: Familial hypocalciuric hypercalcaemia (FHH) is commonly caused by mutations in the CASR gene, less commonly in AP2S1 and rarely in GNA11. Only four FHH-associated loss-of-function variants have been reported in GNA11 to date.Clinical Case: A 30-year-old woman investigated for migraines and paraesthesia in hands and feet was noted to have ionised calcium of 1.38 mmol/l (ref 1.15-1.33 mmol/l), PTH of 5.6 pmol/l (ref 1.6-6.9 pmol/l), and 25-hy...

Introduction: Primary hyperparathyroidism is the commonest manifestation of multiple endocrine neoplasia type 1 (MEN1) syndrome, which is caused by germline mutations on MEN1. Loss of functional menin leads to tumour development through unregulated cell division. The MEN1 c.941G>C, p.(Arg314Pro) variant has previously been thought to co-segregate in one family with MEN1 with tumours of parathyroid glands and endocrine pancreas.Clinical Case: A 37-yea...

Background: Cystic Fibrosis-related bone disease (CFBD) increases morbidity and mortality. Treatment varies across UK CF centres. Dual-energy X-ray absorptiometry (DEXA) is used for bone mineral density (BMD) evaluation: CFBD is diagnosed when Z-score<-2. European Cystic Fibrosis Society (ECFS) criteria for prescribing bisphosphonates:1. Presence of low-trauma fracture 2. Lumbar spine/ total hip/femoral neck Z-score <-2 and significant bone loss ...

Background: One of the main indications for parathyroidectomy surgery in primary hyperparathyroidism (PHPT) is osteoporosis. NICE guideline recommends 2-3 yearly Dual-energy X-ray absorptiometry (DEXA) assessments to evaluate bone mineral density (BMD) in asymptomatic PHPT. Objective: We undertook an audit to evaluate bone health practice in PHPT patients in line with NICE guidelines.Methodology: Retrospective case notes and electr...

Oncogenic ostemalacia is a rare paraneoplastic syndrome characterised by renal phosphate wasting secondary to secretion of FGF-23 from mesenchymal tumours. Localisation of the tumour is wanted, as resection can lead to complete clinical and biochemical cure. We present a case of a 57 year old woman with a background of Vitamin D deficiency and secondary hyperparathyroidism, who presented with severe generalised aches and pain, worst in her ribs and thighs, such that she could ...

Introduction: Primary hyperparathyroidism (PHPT) is a commonly encountered endocrine pathology. Asymptomatic renal stones have been reported in 7-22% of patients. NICE guideline (NG132) published in May 2019 on PHPT recommends renal US in all patients. The value of renal ultrasound for all patients with PHPT has been debated. This audit aims to compare local practice to NICE guideline (NG132) and to see if a tailored approach for renal ultrasound would be safe, practical and e...

Parathyroid hormone is a polypeptide consisting of 84 amino acids. Quantification of circulating intact PTH assists in the differential diagnosis of hypercalcemia. It is important to interpret PTH results with caution and to keep in mind Immunoassays interference can also be a reason of falsely high PTH levels. We present an interesting case referred with high parathyroid hormone levels. A 74 years old female attended clinic with raised PTH levels of 11.7 pmol/l, a normal calc...

A 74 year-old woman had 4 presentations to the hospital with severe symptomatic hypercalcemia despite intensive medical therapy. She had a background of right hemithyroidectomy, hypothyroidism and rheumatoid arthritis. She first presented with symptoms of muscle weakness, vomiting, confusion and muscle aches. Her initial test results showed an adjusted calcium level of 3.79 mmol/l and PTH of 28.1 pmol/l; she was treated with IV fluids, Pamidronate 60 mg and discharged home wit...

Introduction: Denosumab, a human monoclonal antibody used in osteoporosis and second line treatment option for hypercalcaemia, can cause profound hypocalcaemia especially in Vitamin-D depleted and cancer patients.Case history: 56 years female, with diabetes, hypertension on metformin, empagliflozin, amlodipine and ramipril, presented with 3 months history of backache, no red flag signs, clinically and hemodynamically stable except mild confusion and spin...

Background: Hip fractures are associated with high morbidity and mortality rates amongst older adults. The Irish Hip Fracture Database Standard 5 requires that all patients with a hip fracture have a bone health assessment completed. The majority are prescribed bone protection therapy to reduce further fractures. We sought to analyse the compliance and receipt of bone protection in patients presenting for DXA scan post hip fracture.Methods: We retrospect...

A 50-year-old lady presented with fatigue, tiredness and constipation, has more than twenty years history of hypercalcemia. She was clinically and biochemically diagnosed as familial hypocalciuric hypercalcemia with high calcium, normal parathormone, low urinary calcium, low fractional excretion of calcium, positive family history. Genetic confirmation was done by positive molecular genetic analysis of CASR gene. She has persistent high calcium level ranging between 2.8 and 3....

A 60-year lady with a history of thyroidectomy for medullary thyroid presented for her regular follow-up - first presentation in our clinic in Nov 2020 (previous visits to another endocrinology clinic).History: 2005: uretheroplasty for left uretheral hypoplasia January 2017: thyroid ultrasound: a unique left lobe thyroid nodule (1 cm)- basal calcitonin x3 UNL (nr <11.5) and 94 pg/ml calcium stimulated CTN; RET gene - negative for mutations in exons 8...

Introduction: Free ionised calcium is the biologically active component of total circulating calcium but is infrequently measured due to sampling requirements. Therefore, total calcium is ‘adjusted’ for albumin to provide a closer estimate of the biologically active ionised calcium level (e.g. James, Orell, Payne and Berry formulae). Here, we aim to derive a novel equation to estimate ionised calcium from readily available biochemical parameters and compare its perfo...

Background: Hypercalcaemia is common in renal transplant recipients, the majority of whom have PTH-dependent hypercalcaemia due to tertiary hyperparathyroidism. PTH-independent hypercalcaemia is less common and is associated with significant, treatable underlying pathologies. In this study, we aimed to evaluate the prevalence and aetiology of PTH-independent hypercalcaemia in post-renal transplant patients.Method: This was a retrospective, single-centre ...

Background: Bone turnover markers (BTM) are potential measures for understanding the effect of antiresorptive medications upon osteoclast activity. As a dynamic marker of therapy effect, they could complement or replace DXA-BMD. The translation of population data on BTM changes with therapy to the individual patient is less established. Post-hoc trial data suggests a reduction in BTM of 40% may represent a target for defining appropriate response to therapy.<p class="abste...

Aim: To assess the appropriateness of parathyroid imaging performed in patients with primary hyperparathyroidism at the United Lincolnshire Hospital NHS Trust from 2018 to 2019.Background: Primary hyperparathyroidism (PHPT) is a clinical and biochemical diagnosis. Reported sensitivity for imaging localisation of parathyroid adenomas for ultrasound and sestamibi scans are not high at 65 to 85% and 71 to 92%, respectively. Surgeons use combined ultrasound ...

Introduction: Accurate preoperative localisation in primary hyperparathyroidism enables a localised approach to a parathyroidectomy operation. Ultrasonography is the most commonly used first-line imaging modality due to its widespread availability and safety. Parathyroid scintigraphy using MIBI is commonly used as the second-line imaging modality, as recommended by NICE. 4D-CT may have a role as a third-line imaging modality, when ultrasound and scintigraphy do not clearly loc...

Case: A 34-years-old male, construction worker, referred by GP with the history of vomiting, fatigue and near-collapse. Apart from alcohol excess, his past medical history was unremarkable. He did not have any personal or family history of any endocrinopathy, and was not taking any medication. Initial blood result were as below. ECG showed short QTc interval of 354 ms. His presentation was initially thought to be vomiting due to alcohol excess leading to dehydration and hyperc...

61-year-old-male with a background of treated hypertension and dyslipidaemia presented to accident and emergency with progressive shortness of breath. His most recent bloods were within normal limits. He has a positive family history of cardiac disease, and underwent investigation by CT scanning. This revealed a 10.2 mm anterior mediastinal nodule, which was not avid on PET CT scan. His case was reviewed by the respiratory team and he underwent a left VATs thymectomy. Thymic t...

Hypocalcaemia can present with paraesthesia, twitching, mood and memory changes and should be considered a medical emergency given potential to cause seizures, tetany, arrhythmia and cardiac arrest. It may be caused by hormonal dysregulation including hypoparathyroidism or pseudohypoparathyroidism or other factors such as vitamin D deficiency, chronic kidney disease or hypomagnesaemia. In this case series, we highlight the use of various protein pump inhibitors (PPIs) in drivi...

Background: There is limited data on the use of Denosumab for hypercalcaemia in patients with primary hyperparathyroidism (PHPT). We describe a case of severe hypercalcaemia in a critically ill patient with COVID, on a background of mild PHPT prior to hospital admission.Case report: Seventy-seven-year-old gentleman with mild hypercalcaemia dating back to 2019, was referred to endocrinology with hypercalcaemia (adjusted calcium 4.02 mmol/l) and associated...

A 50 years old man was seen in the Endocrine clinic with elevated calcium (2.80 mmol/l, normal 2.20-2.60) and Parathyroid hormone (10.7 pmol/l, normal 1.6-6.9) levels. His medical background includes Alport Syndrome, Renal Allografts (1st 1990, 2nd 2000 and 3rd 03/11/2005), and Osteopenia on DEXA scan in February 2020. He did not have any renal stones in the past. There was no family history of hypercalcemia. He was on Vitamin D 1000 Units daily (Vitamin D 55 nmol/l, normal 50...

A female born in 1950, with history of Coeliac Disease since 1985, hypolactasia, pernicious anaemia, osteoporosis, asthma, lymphocytic colitis and non-alcoholic fatty liver disease with portal hypertension was referred to the Endocrinology team in June 2021 as the calcium was noted to be high. She had strongly positive anti endomyseal antibody, high Tissue Transglutaminase tire and duodenal biopsy proved villous atrophy with no evidence of Enteropathy associated T cell Lymphom...