Endocrine Abstracts

Background: Parathyroid hormone (PTH) is a peptide hormone consisting of 84 amino acids with residues 1–34 responsible for its biological activity. Hypoparathyroidism is a rare, complex condition with a patient predisposition toward impaired mineral homeostasis. Replacement with Natpara (PTH 1-84) requires daily injections and is still complicated by fluctuating calcium levels. An unmet need exists for a long-acting treatment that is effective. It is hypothesised that a P...

Background: The treatment of choice for symptomatic primary hyperparathyroidism (PHPT) is surgery, however in many cases patient choice or medical comorbidities preclude this treatment modality.Aim: This audit examines the use of cinacalcet in management of primary hyperparathyroidism in a district general hospital to determine if it is in accordance with the National institute for health and care excellence (NICE) guidance (May 2019).<p class="abste...

Introduction: 99m/Tc-MIBI parathyroid scintigraphy (MIBI) is the most common test used for pre-operative localization of parathyroid adenoma in primary hyperparathyroidism. We evaluated the influence of serum calcium and parathyroid hormone (PTH) levels on sensitivity of MIBI imaging in successful parathyroid localisation in patients identified as having primary hyperparathyroidism.Methods and material: Retrospective review of 403 patients who had MIBI s...

Introduction: Patients with inflammatory bowel disease (IBD) are at increased risk for decreased bone mass density (BMD), fractures. Preserved muscle mass is important for healthy bones. Low mean mass can be found in these patients due to immobilization, lack of physical activity and glucocorticoids. Our aim was to evaluate the presence of low BMD and muscle mass impact on it.Methods: 64 patients with inflammatory bowel disease (40 with Crohn disease, 24...

Background: British Association of Thyroid and Endocrine Surgeons defines post-operative hypocalcaemia as adjusted calcium of < 2.0 mmol/l; ‘late hypocalcaemia’ as the ongoing requirement for calcium/Vitamin D supplements at 6 months; permanent post-surgical hypoparathyroidism (PSHP) at 12 months. The incidence rates of late hypocalcaemia are 6.5–12.1% and PSHP is 0.9%–4.5%.Objective: To evaluate PSHP incidence rate in total thyro...

Background: Primary hyperparathyroidism (PHPT) is the third most common endocrine disorder, with an estimated prevalence of 1 to 4 per 1000 in the general population. It is well established that vitamin D deficiency co-exists with PHPT. However, there are very few studies that looked at the relationship of the severity of vitamin D deficiency to the clinical and biochemical presentations of PHPT.Aim: This study evaluated the prevalence of vitamin D defic...

Background: Minimally invasive parathyroidectomy relies on accurate localisation of the culprit gland. Combination of US plus Technetium 99m-sestamibi is considered the gold standard. CT parathyroid is thought to be a valuable tool in the pre-operative localisation.Aim: To evaluate the diagnostic performance of 2D CT parathyroid in patients with primary hyperparathyroidism (PHP).Methods: This was a single-institution prospective st...

Background: Autosomal dominant hypocalcaemia (ADH) is most commonly due to activating mutations in the Calcium Sensing Receptor (ADH Type 1), in which treatment with vitamin D analogues is frequently associated with hypercalciuria. More recently, activating mutations in the alpha-subunit of the G-protein α-11 (Gα11), encoded by GNA11, have been identified in a small number of ADH kindreds (ADH Type 2). The impact of vitamin D analogue treatment in ADH2 patie...

Background: Recent NICE guidelines1 suggest imaging the parathyroid with ultrasound as first line prior to parathyroidectomy, MIBI as an alternative and surgical exploration if discordant. Investigation should also include a renal ultrasound and DEXA. This audit compares a single surgeon practice in one hospital to the guidelines.Methods and Results: All patients with a parathyroidectomy performed by a single surgeon between July 2016 and July...

Aim: This study evaluated the prevalence of vitamin D deficiency in patients admitted with low trauma fracture (LTF). We also explored whether there was a rationale to offer appropriate and safe high dose vitamin D supplementation on admission for patients who are not already on vitamin D supplementation to avoid delay in commencing active bone protection treatment if required.Patients and methods: Using the FLS database, 1460 patients over the age of 50...

Background: Bone is constantly remodelling and an imbalance between bone resorption and formation can predispose to osteoporosis. Bone turnover markers (BMTs) are biochemical markers that reflect the dynamics of bone formation and resorption. Carboxy-terminal collagen crosslinks (CTx) is a bone resorption marker measured in serum which is used to monitor treatment response.Aims: The aims of the study were to determine how CTx has been used to monitor pat...

Pseudohypoparathyroidism (PHP) is highly heterogeneous rare disorder characterized by end organ resistance to PTH action with proven genetic component. PHP-Ib classically refers to a condition characterized by renal resistance to PTH in the absence of other endocrine or physical abnormalities and in the presence of a normal GNAS alfa activity and only few cases have been reported so far. We report a case of 43 year old gentleman was diagnosed to have seizures at the age of 13 ...

Background: Anecdotal evidence suggests that access to surgical care for primary hyperparathyroidism (PHPT) varies significantly across the UK.Method: A web-based survey was emailed to all members of Parathyroid UK patients’ group.Results: Replies were received from 119 patients (108F: 11M, median age 57) who have had a diagnosis of PHPT for a median for 5 years (3 months–10 years). Majority were diagnosed by the...

Background: Hypercalcaemia is a common finding in in-patients. Acute hypercalcaemia can be life-threatening; thus proper work-up is pivotal for correct assessment of underlying-cause and management. The European Hypercalcaemia Guidelines 2016 was used as reference.Aim: Study was undertaken to assess appropriateness in work-up, diagnosis and management of patients with hypercalcaemia according to European Guidelines.Methods: Patient...

Lithium induced hypercalcaemia can occur in 4.3–6.3% patients. Lithium interacts with CaSR in parathyroid gland and can ‘unmask’ parathyroid adenoma or cause parathyroid gland hyperplasia. It can cause tubular damage leading to tubular concentration defect or nephrogenic DI. Parathyroid hyperplasia in patients with LAH is much more prevalent than in PHPT.Methods: The aim of this project was to review presentation and management in patients...

Primary hyperparathyroidism (PHPT) is the third most common endocrine disorder and contributes to excess morbidity and mortality in the populations affected. In developed healthcare systems PHPT is routinely diagnosed at the asymptomatic stage. Parathyroidectomy is the only curative treatment. The latest guidelines specific to the surgical management of patients with asymptomatic PHPT have been developed by the Fourth International Workshop. This audit aimed to establish how m...

Primary Hyperparathyroidism (pHPT) affects approximately 1:2000 women under 40 years of age, so pHPT in pregnancy is uncommon. It is associated with significantly increased risks of morbidity for mother and foetus. Conventionally, surgery is recommended, ideally early in the second trimester. A 31-year-old woman attended the Accident and Emergency department at 26+4 weeks of her third gestation, with severe loin pain and fever. She had a past medical history of pyelonephritis....

Primary hyperparathyroidism is rarely diagnosed in pregnancy; not only because it is uncommon in that age group but also because many of the symptoms overlap with non-specific pregnancy symptoms (nausea, vomiting, fatigue, constipation). Primary hyperparathyroidism with significant hypercalcaemia can potentially cause serious maternal (preeclampsia, nephrolithiasis, pancreatitis and hypercalcaemic crisis) and foetal (miscarriage, stillbirth, neonatal hypocalcaemia leading to t...

The association between hypomagnesaemia and proton pump inhibitors (PPIs) has been well-established in recent years, with a median onset of electrolyte disturbance around 5.5 years after PPI initiation. The mechanisms and aetiology of this potentially life-threatening side-effect remain unclear. We assessed the prevalence of PPI usage in all cases of severe hypomagnesaemia (defined for the purposes of the study as a magnesium level <0.4 mmol/l) in our hospital over the cou...

An audit of parathyroidectomies carried out at the East and North Herts Trust between 2010 and 2014 revealed a 25% failure rate following surgery. The audit revealed inappropriate pre-operative workup with regards to biochemistry and/or imaging in 40% of cases. In 2015, a parathyroid MDT was established. The aim of this was to ensure patients had appropriate investigation prior to referral for surgery. A Trust hyperparathyroidism pathway was written based on best practice and ...

Due to availability of easy routine blood testing, normocalcaemic primary hyperparathyroidism is increasingly seen. However, due to its mild nature, it often poses diagnostic difficulties. We present a case of 65 year old gentleman who was diagnosed with osteoporosis in 2015. He had a history of traumatic fractures of tibia, fibula and calcaneum in 2013. He was later diagnosed with unexplained osteoporosis in 2015 (T-score of hip −2.5 and T-score of spine −1.2) and...

Familial Hypophosphatemia is an inherited disorder of bone metabolism that affects 1 in 20 000 new-borns. The X-linked dominant form of the disease results from a genetic mutation of the PHEX gene. This leads to disordered regulation of fibroblast growth factor 23 resulting in reduced phosphate renal reabsorption and vitamin 1α Hydroxylation. Clinical features include short stature, rickets, craniosynostosis and dental abnormalities.Case: A 29 year ...

Familial hypocalciuric hypercalcaemia (FHH) usually manifests with mild asymptomatic hypercalcaemia. Presentations with severe hypercalcaemia are uncommon and may be mistakenly assumed to be primary hyperparathyroidism (PHPT) unless detailed testing is undertaken on all cases of hypercalcaemia. We present 4 cases of FHH presenting with severe hypercalcalcaemia, corrected serum calcium (coCalcium) > 3 mmol/l. Three cases were initially admitted to hospital as medical emergencie...

Introduction: An audit of outcomes and indications for parathyroidectomy was conducted from April 2016 to April 2018 for all patients had primary hyperparathyroidism at East Sussex Hospitals Trust.Methods: Clinical notes, pathology results and radiology results were accessed to compile the dataset. Indications for surgery were based on the National Institute of Health criteria for parathyroidectomy in hyperparathyroidism from 2013....

Primary hyperparathyroidism (PHPT) is a common endocrine condition. Outside of syndromic presentations, it is relatively rare in young people and during pregnancy. The diagnosis in pregnancy poses a unique challenge and is often missed as the symptoms of hypercalcemia mimic those in pregnancy. We present a case of a 20-year old woman who was found to have severe hypercalcemia after she had persistent vomiting in early pregnancy. Biochemistry showed adjusted calcium of 5.34 mmo...

Aims: To validate the questionnaire designed by O’Connor et al. (2018) and investigate the association between vitamin D knowledge and serum 25-OH-D. Methods: Face and content validity were assessed by a panel of experts and public (n=8). The final questionnaire comprised of four sections; demographics (12 questions), knowledge (13 questions), attitudes toward sun exposure and vitamin D (11 questions) and perceptions of supplementation ...

Introduction: Primary hyperparathyroidism (PHPT) is associated with adverse effects especially on the bones and kidney. While nowadays it is mostly diagnosed at an asymptomatic stage, patients with overt involvement of the target organs at the time of diagnosis are still encountered.Aim: To explore the frequency of disease complications already present at the time of diagnosis in a cohort of patients with sporadic PHPT who meet the current surgical guide...

Background: Directly measuring kidney function is time-consuming, expensive and impractical. Thus different formulas have been developed for estimating the glomerular filtration rate (eGFR) which provides a surrogate marker of clearance. The MDRD equation is commonly used to provide eGFR to clinicians. However, most product information suggests prescribing based on the estimated creatinine clearance (eCrCL) based on the Cockcroft–Gault (CG) formula. different equations ut...

Parathyroid hormone-dependent hypercalcaemia is one of the commonest conditions seen in endocrinology clinics. Primary hyperparathyroidism (PHPT) is the usual cause although some cases are due to other conditions including familial hypocalciuric hypercalcaemia (FHH). Making the distinction between PHPT and FHH is important in order to avoid unnecessary parathyroid surgery. Urinary calcium quantification is an integral part of diagnostic investigations. We present the case of a...

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 56 year old man was admitted to hospital with a two day history of nausea and vomiting. Admission calcium was 4.1 mmol/l with a PTH of 146.5 pmol/l and creatinine of 227 umol/l. Primary hyperparathyroidism was diagnosed 4 months earlier with a calcium of 3.22 mmol/l and PTH of 24.4 pmol/l. He had prior outpatient treatment with intravenous disodium pamidronate and cinacalcet. He was waiting SPECT CT due to indeterminant imaging. Past history included right tonsillar carcinom...

Introduction: Hyperparathyroidism in pregnancy is rare and is associated with significant maternal and fetal morbidity and mortality. Recognition can be challenging due to the inability to differentiate hypercalcaemia symptoms from those of pregnancy, studies suggest that up to 80% of cases may be undiagnosed. We report three cases of hyperparathyroidism in pregnancy at Royal Derby Hospital, investigations (Table 1) and management in these patients are reviewed.<p class="a...

Introduction: Hypophosphatasia is a very rare inherited condition due to ALPL variants and is associated with a variable presentation.Case description: The index case initially presented at 7 months with bulging anterior fontanelle, failure to thrive and mild developmental delay. She was born at 34 weeks gestation and had amniotic bands causing digital anomalies. She was sitting at 8 months, crawling by 15 months and a hearing test was normal. A...

Context: Parathyroid carcinoma is a very rare malignancy. It arises as a separate structure rather than from a pre-existing parathyroid adenoma. It may be difficult to differentiate it from parathyroid adenoma based on histology. When evaluating primary hyperparathyroidism clinical correlation should be taken into account. Clinical features of parathyroid carcinoma may include male gender, palpable neck nodule and higher parathyroid hormone and serum calcium levels associated ...

We believe this is the first case report of anunusual presentation of hypercalcemia due to sarcoidosis mimicking metastatic colon carcinoma. A 68 year old lady with a background history of pancolectomy and neoadjuvant chemotherapy for Duke C1 rectal carcinoma under surveillance, ulcerative colitis, type 2 diabetes mellitus presented to the clinic with hypercalcemia with low parathyroid hormone (PTH) and symptoms of tiredness. Her blood test showed Adj Ca of 2.8 mmol/l, PTH &#6...

A 33 year-old man was referred to the endocrine bone clinic following presentation with a 4 mm kidney stone and hypercalcaemia. Apart from mild fatigue, he had no other hypercalcaemic or concerning symptoms. He was not on any medications or supplements. He had a positive family history for kidney stones and reported that his grandmother had been noted to have hypercalcaemia in the past. There was significant consanguinity in his family. Examination was entirely normal while bl...

Introduction: Cardiovascular manifestations of hypocalcaemia include reversible CHF, prolonged QTc and ventricular arrhythmias. In patients presenting with hypocalcaemia, diagnosis of hypoparathyroidism is straightforward, but determining its cause is challenging.Case Report: 33 year lady admitted (23 November 2018) with VF arrest. Bloods showed low calcium (1.62 mmol/l), magnesium (0.48 mmol/l) and potassium (2.3 mmol/l) and ECG showed prolonged QTc. PT...

We describe a patient who was treated for hypercalcaemia with inadvertent ramifications. A 59 year old gentleman with a background history of chronic kidney disease stage (CKD) 4, type 2 diabetes mellitus, hypertension, congestive cardiac failure and bilateral lower limb below knee amputations, presented with hypercalcemia of 3.30 mmol/l (reference range 2.20–2.60) and suppressed PTH at 12 ng/l (reference range 15–65), from a previously raised PTH level of 162 due to...

Hypercalcemia in hyperthyroidism is usually asymptomatic, and related to a concurrent primary hyperparathyroidism. In this report, we describe a case of symptomatic hypercalcemia secondary to Graves’ disease alone.Case report: A 24-year-old Filipino female presented to the emergency department with generalized weakness, vomiting and abdominal pain. No other symptoms were noted. She was otherwise previously healthy. Family history was unremarkable. D...

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...

Background: Postoperative hypocalcemia is common after extensive thyroid surgery and parathyroid surgery. There are various risk factors, although there is lot of variability.Methods and results: The aim of this project was to examine and improve postoperative monitoring and management of serum calcium at a district general hospital. Process was mapped using a flow chart and was discussed in MDT to identify areas for improvement. Data was then collected ...

Hypercalcemia is a relatively common extrapulmonary manifestation of sarcoidosis. Sarcoidosis-associated hypercalcemia is due to the uncontrolled synthesis of 1,25-dihydroxycholecalciferol and increased intestinal absorption of calcium which usually results in a low serum concertation of parathyroid hormone (PTH). High levels of PTH in patients with hypercalcemia secondary to sarcoidosis is usually an indication of co-existent primary hyperparathyroidism. We present a case of ...

A 73-year-old man with a known history of Type 2 Diabetes, atrial fibrillation and hypertension presented with chest pain to the emergency department. His medication included metformin, bisoprolol, apixaban and omeprazole (long-term use). On clinical assessment, he complained of generalised aches and examination revealed bony tenderness over the chest wall. His electrocardiogram showed a prolonged QTc interval (495 ms). Biochemical tests revealed normal serum troponins, renal ...

Pseudohypercalcaemia is defined as an elevated total calcium level coincidental with a normal ionised calcium level. This rare phenomenon occurs in monoclonal gammopathy of unknown significance (MGUS). We report two cases of MGUS and a case of atopy with grossly elevated IgE levels exhibiting the phenomenon.Case 1: 31 year old female with MGUS, hypercalcaemia and normal parathyroid (PTH) levels. Parathyroid imaging normal. Consensus diagnosis of primary ...

Coexistence of primary hyperparathyroidism and multiple myeloma is very rare.Case report: 45 year old Jamaican female presented with left sided chest pain for a month. CXR showed a pathological left clavicular fracture with a lytic lesion. She was noted to have a serum Ca of 3.26 mmol/l.Other investigations: Haemoglobin 115 g/l (115–155), creatinine 76 umol/l (49–92), Corrected Ca 3.26 mmol/l (2.20–2.60), Phosphate 0...

61-year-old previously fit and healthy female presented with one-week history of confusion and altered consciousness. There was no history of fever, headache or limb weakness. She was dehydrated, Glasgow Coma Scale score was 11/15, pupils were equal and reactive to light bilaterally and rest of examination was unremarkable. Initial investigations are outlines in Table 1. X-ray-chest showed mediastinal lymphadenopathy and CT head was unremarkable. She was initially treated for ...

Hypercalcemia in hyperthyroidism is usually asymptomatic, and related to a concurrent primary hyperparathyroidism. In this report, we describe a case of symptomatic hypercalcemia secondary to Graves’ disease alone.Case report: A 24-year-old Filipino female presented to the emergency department with generalized weakness, vomiting and abdominal pain. No other symptoms were noted. She was otherwise previously healthy. Family history was unremarkable. D...

Introduction: HDR syndrome, is a rare, genetic syndrome characterized by hypoparathyroidism sensorineural deafness and renal disease. Mutations in GATA binding protein 3 (GATA3), a gene localized to the chromosome region 10p14-15, have been detected in families affected by the syndrome.Case report: This is a 30 year old lady who was referred to the endocrine services with symptoms of generalized fatigue, mouth numbness and tingklining. Her past ...

Introduction: Sarcoidosis is a multisystem granulomatous disorder. It commonly causes mild hypercalcemia in up to 10–20% of the cases and renal involvement can be a feature. Presentation with severe symptomatic hypercalcaemia (>3.5 mmol/l) and acute kidney injury is rare. We present an interesting case.Case: A 58 year old female was referred to the emergency department by her general practitioner with a one month history of polyuria, generalised wea...

The Fibroblast Growth Factor 23 (FGF23) gene provides instructions for making a protein called FGF23. This protein is necessary in regulating the phosphate levels within the body. We present a case of an adult Caucasian man with persistent hypophosphatemia due to mutation in ENPP1.Case History: A 34 years old male presented with intermittent muscle pain, cramps and headaches. He also noticed episodic breathlessness and irritability. He had no hi...

Hyperparathyroidism is rarely encountered in pregnancy; however, the consequence of untreated disease can be significant for both the mother and fetus (increased risk of miscarriage, IUGR, pre-eclampsia, neonatal hypocalcaemia). NICE guidance (May 2019) on the management of PHPT strongly recommends disease control pre-pregnancy, MDT working and offering surgery if cCa is above 2.85 mmol/l. We report a 31-year-old P4 who was referred to our joint endocrine/obstetric clinic at 1...