Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology BES 2017

Harrogate, UK
06 Nov 2017 - 08 Nov 2017

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SfE BES 2017 will be on the 6-8 November 2016 in Harrogate, UK.

Poster Presentations

Bone and Calcium

ea0050p041 | Bone and Calcium | SFEBES2017

Studies of nuclear factor I/X (NFIX) mutations causing the Marshall-Smith syndrome (MSS)

Kooblall Kreepa , Stevenson Mark , Hennekam Raoul , Thakker Rajesh

Marshall-Smith syndrome (MSS) is a congenital disorder characterised by developmental delay, failure to thrive and skeletal abnormalities such as accelerated osseous development, osteopenia, bullet-shaped middle phalanges and kyphoscoliosis. MSS is caused by truncating or frameshift mutations of the nuclear factor I/X (NFIX) gene, which encodes a ubiquitously expressed transcription factor that regulates expression of viral and cellular genes, i...

ea0050p042 | Bone and Calcium | SFEBES2017

LC-MS/MS measurement of parathyroid hormone PTH (1-34): Use in studying oral PTH (1-34) administration and possible diagnostic application in pseudohypoparathyroidism

Al-Riyami Sulaiman , Tang Jonathan , Galitzer Hillel , Fraser William

Background: Teriparatide PTH(1-34) is an osteoanabolic agent used in the treatment of osteoporosis. Measurement of PTH(1-34) can be useful in osteoporosis treatment and in the diagnosis of pseudohypoparathyroidism (PHP) by confirming administration of PTH(1-34)Aims: 1) To assess PTH(1-34) profiles obtained using standard Forsteo treatment compared to using a novel oral administration. 2) To confirm the PTH(1-34) in a PHP patient re...

ea0050p043 | Bone and Calcium | SFEBES2017

Immunomodulation by vitamin D is associated with regulation of dendritic cell microRNAs

Li Danyang , Jeffery Louisa , Raza Karim , Hewison Martin

The hormonally active form of vitamin D, 1,25-dihydroxyvitamin D (1,25D) acting via the vitamin D receptor (VDR) is a potent transcriptional regulator, with effects on skeletal and extra-skeletal physiology. We have shown previously that skeletal responses to 1,25D also involve regulation of microRNAs (miRNAs); small non-coding RNAs with an emerging role in epigenetics. To assess the role of miRNAs in innate immune responses to 1,25D we utilised in v...

ea0050p044 | Bone and Calcium | SFEBES2017

Disruption of the G-protein subunit α11 (Gα11) interdomain interface causes autosomal dominant hypocalcemia type-2 (ADH2)

Gorvin Caroline , Cranston Treena , Homfray Tessa , Shine Brian , Hannan Fadil , Thakker Rajesh

Heterotrimeric G-proteins are important molecular switches that transduce extracellular ligand-binding at G-protein-coupled receptors (GPCRs) to intracellular signals. G-protein alpha-subunits (Gα) have two domains, a helical and GTPase domain, which provide structural stability and mediate GTPase activity, respectively. Gain-of-function Gα mutations cause endocrine conditions including McCune-Albright Syndrome, due to Gαs mutations, and a...

ea0050p045 | Bone and Calcium | SFEBES2017

Uniparental isodisomy as a cause of the autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome

Cranston Treena , Boon Hannah , Ryan Fiona , Shears Debbie , Thakker Rajesh , Hannan Fadil

The autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) syndrome is an autosomal recessive disorder characterized by immune deficiency and the autoimmune destruction of endocrine organs such as the parathyroids, adrenal cortex and ovaries. APECED is caused by biallelic germline mutations of the autoimmune regulator (AIRE) gene on chromosome 21q22.3, which is expressed in thymic medullary epithelial cells and plays a key role ...

ea0050p046 | Bone and Calcium | SFEBES2017

Systematic in silico evaluation of rare genetic variants in G-protein alpha 11 (Gα11)

Gluck Anna , Gorvin Caroline M , Thakker Rajesh V

The calcium-sensing receptor (CaSR) is a G-protein coupled receptor (GPCR) that maintains systemic calcium homeostasis by detecting alterations in extracellular calcium, which it transduces into signalling changes, mainly via the Gq/11 pathway, leading to a decrease in PTH secretion. The importance of CaSR is highlighted by studies of patients that harbour germline CaSR mutations, which lead to a gain of receptor function in autosomal dominant...

ea0050p047 | Bone and Calcium | SFEBES2017

A study on 24 hour urine calcium creatinine ratio in primary hyperparathyroidism (PHPT) and familial hypocalciuric hypercalcaemia (FHH)

Chandra Parvathy , Todd Jeannie F

Background: Prevalence of FHH in hypercalcaemic patients with a raised PTH has been quoted as 1 in 20. Parathyroidectomy has no benefit and therefore it is important to exclude FHH prior to considering surgery.Objectives: The aim of our study was to idenitify hypercalcaemic patients with a 24 hour urine calcium creatinine ratio (Ca/Cr) between 0.01–0.02 with a view to propose a cut-off ratio of 0.015 which will provide optimal...

ea0050p048 | Bone and Calcium | SFEBES2017

Annual incidence of acute severe hypocalcaemia due to hypoparathyroidism: a 3 year consecutive study amongst patients with severe hypocalcaemia presenting to A&E

Davies Zoe , Vincent Royce , Aylwin Simon

Background: Patients with hypoparathyroidism may present acutely with hypocalcaemia and these patients may have multiple admissions; however, data on the incidence of acute and recurrent acute hypoparathyroidism are scarce in the literature.Aim: We wished to determine: (1) the causes of severe hypocalcaemia amongst A&E attendances (2) the incidence of acute hypocalcaemia due to hypoparathyroidism amongst A&E attendances, and (3) the incidence of ...

ea0050p049 | Bone and Calcium | SFEBES2017

Predictors of nephrolithiasis, osteoporosis and mortality in primary hyperparathyroidism

Gibb Fraser , Reid Laura , Muthukrishnan Bala

Introduction: Nephrolithiasis and osteoporosis are more common in people with primary hyperparathyroidism (PHPT), although the clinical factors associated with this risk are not well characterised. Recent evidence has suggested parathyroid hormone concentration, but not calcium, is associated with mortality in PHPT.Methods: Retrospective analysis of all patients presenting to the Edinburgh Centre for Endocrinology & Diabetes wi...

ea0050p050 | Bone and Calcium | SFEBES2017

Discontinuation of denosumab–real world experience from a single centre

Venkataraman Hema , Dar Shuja , Hiwot Tarek , Criseno Sherwin , Hassan-Smith Zaki , Gittoes Neil

There is concern about rapid reduction in bone mineral density (BMD) and early rebound vertebral fractures following discontinuation of denosumab. Our aim was to review local experience of discontinuation of denosumab, changes in BMD and fractures in patients with osteoporosis.Methods: A retrospective analysis was conducted for patients who discontinued denosumab between March 2011 & June 2016. Denosumab withdrawal(DW) was defi...

ea0050p051 | Bone and Calcium | SFEBES2017

1,25-dihydroxyvitamin D deficiency in haemodialysis patients is corrected by vitamin D supplementation

Huish Sharon , Jenkinson Carl , Fletcher Simon , Dunn Janet , Hewison Martin , Bland Rosemary

Reduced renal synthesis of 1,25-dihydroxyvitamin D (1,25(OH)2D) from 25-hydroxyvitamin D (25OHD) in end stage renal disease (ESRD) results in low serum 1,25(OH)2D. This appears to be due to reduced renal cell function and elevated serum fibroblast growth factor 23 (FGF23). Treatment strategies have therefore focussed on 1,25(OH)2D or its synthetic analogues, alfacalcidol or paricalcitol. However this overlooks 25-hydroxyv...

ea0050p052 | Bone and Calcium | SFEBES2017

Retrospective audit of the use of cinacalcet for the treatment of primary hyperparathyroidism in adults against the NHS England prescribing criteria

Ghabbour Andrew , Ahmed Shakeel , Crown Anna

Method: We carried out a retrospective audit of baseline data for patients under our care with primary hyperparathyroidism on cinacalcet therapy, against the NHS England Clinical Commissioning Policy (July 2016). Patients with secondary hypercalcaemia due to end stage renal failure were excluded.Results: 40 patients were identified, 9 men and 31 women, with an age range of 32–89 years (median age 78). 3 patients were under 50 ...

ea0050p053 | Bone and Calcium | SFEBES2017

Critical evaluation of biochemical and imaging diagnostic assessment in primary hyperparathyroidism

Gibb Fraser , Muthukrishnan Bala , Reid Laura

Introduction: The performance of biochemical and imaging investigations in contributing towards successful surgical outcomes is not well characterised in PHPT.Methods: Retrospective analysis of all patients presenting to the Edinburgh Centre for Endocrinology & Diabetes with PHPT between 2006 and 2014 (n = 611). Parathyroid surgery was performed in 44.8%.Results: PTH was greater than 2x ULN in 34...

ea0050p054 | Bone and Calcium | SFEBES2017

Review of denosumab therapy In a Scottish population

Singh Sharandeep , Kueh Christopher Jiaw Liang , Harte Rachael , Gallagher Andrew , Hinnie John , Gallacher Stephen

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...

ea0050p055 | Bone and Calcium | SFEBES2017

The incidence of Bisphosphonate related Osteonecrosis of the Jaw (BONJ) in patients treated with oral bisphosphonates for osteoporosis

MacLean Fergus , Mason Rebecca , Downie Jeff , Watt Iain , Gallagher Andrew , Gallacher Stephen , Hinnie John

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...

ea0050p056 | Bone and Calcium | SFEBES2017

Audit on parathyroid scans in patients with surgically managed primary hyperparathyroidism

Gherman-Ciolac Carolina , Lekkakou Leoni , Buch Harit

Background: Management of PHPT includes successful localization of parathyroid adenoma(s) by nuclear imaging and ultrasound scans allowing focused or minimally invasive surgery. Our aim was to assess the accuracy of parathyroid imaging in surgically-treated patients with primary hyperparathyroidism (PHPT) by correlating the imaging findings with surgical findings and cure of hyperparathyroidism. We also compared the surgical outcomes in patients with con...

ea0050p057 | Bone and Calcium | SFEBES2017

Imaging in primary hyperparathyroidism; does it affect our referral pathways for surgery? Results of an audit

Dede Anastasia , Morganstein Daniel , Shotliff Kevin , Greener Veronica , Smellie James , Maenhout Annelies , Wren Alison

Introduction: The 4th International Workshop on asymptomatic primary hyperparathyroidism (PHPT) has set criteria for surgical intervention and suggests that a percentage of patients can be managed conservatively. Imaging is indicated only pre-operatively to determine the optimal surgical approach.Patients and methods: We completed an audit on the use of Sestamibi, clinical and biochemical data in patients with PHPT.<...

ea0050p058 | Bone and Calcium | SFEBES2017

Audit of adjusted calcium and serum 25-OH vitamin D screening and replacement therapy prior to Zoledronic acid infusion at University Hospitals Birmingham

Al-Hity Shams , Criseno Sherwin , Justice Elizabeth

Background: Zoledronic acid infusions are licensed for the treatment of osteoporosis and other bone disorders. Hypocalcaemia, a common side effect, increases the risk of complications. The risk of hypocalcaemia is further increased by a deficiency in 25-OH Vitamin D (VD). Pre-dose screening (PDS) is necessary to detect sub-optimal levels of serum VD and adjusted calcium (AC) early to avoid delayed treatment.Objectives: Audit adhere...

ea0050p059 | Bone and Calcium | SFEBES2017

Spontaneous inpatient parathyroid autoinfarction and remission of primary hyperparathyroidism from a mediastinal adenoma

Hussein Ziad , Munir Alia

: Ectopic parathyroid adenomas have a low imaging incidence quoted at 1.4% in patients undergoing investigation for primary hyperparathyroidism with a prevalence of 6–30%. These are reported to have a more clinically severe manifestation of the disease, frequently with higher calcium levels and bone disease. Remission due to parathyroid infarction is a rare occurrence. We report a 54-yr Afro-Carribean/mixed race female who presented with lethargy, weight loss and reduced ...

ea0050p060 | Bone and Calcium | SFEBES2017

Review of parathyroid imaging and subsequent surgical findings in primary hyperparathyroidism – do they correlate?

Whicher Clare Alexandra , Karathanasi Eleni , Meeking Darryl

Introduction: Primary hyperparathyroidism is the most common cause of hypercalcemia in the ambulatory setting. Once the diagnosis has been confirmed, imaging of the parathyroid glands is performed locally with a combination of ultrasound scan (USS) and sestamibi/single-photon emission computed tomography (SPECT CT) to localise a parathyroid adenoma prior to surgery.Method: Data was collected on patients undergoing parathyroid surge...

ea0050p061 | Bone and Calcium | SFEBES2017

Prevalence of Kidney Stones and Osteoporosis in Patients with Primary Hyperparathyroidism (PHPT)

Criseno Sherwin , Gittoes Neil , Hiwot Tarekegn

Aim: To evaluate the prevalence of kidney stones and osteoporosis in a cohort of patients with a confirmed diagnosis of primary hyperparathyroidism (PHPT).Study Design: This retrospective study reviewed the clinical records of patients with a confirmed diagnosis of PHPT in a single tertiary referral centre for metabolic bone disease over a period of 6 years (January 2010 – December 2015).Patients: There ...

ea0050p062 | Bone and Calcium | SFEBES2017

Delphi panel to define patients with chronic hypoparathyroidism ‘not adequately controlled on standard therapy’

Rylands Angela , Patel Kinjal , Dass Nin , Iqbal Kamran

Chronic hypoparathyroidism (HypoPT) is a rare endocrine condition characterised by hypocalcaemia and deficient or absent parathyroid hormone. The recent European Society of Endocrinology Guidelines outline recommendations for treatment and monitoring of chronic HypoPT in adults. A Delphi panel was conducted to agree upon the characteristics that define ‘not adequately controlled on standard therapy’ where this relates to patients with chronic H...

ea0050p063 | Bone and Calcium | SFEBES2017

A difficult case of metastatic parathyroid cancer with refractory hypercalcaemia and medication-related osteonecrosis of the jaw

McDonnell Tara , Yuliya Manova , Fedele Stefano , Chung Teng-Teng

We present the case and management of a 76 year old man who developed medication-related osteonecrosis of the jaw (MRONJ) as a result of 12 years of bisphosphonate and denosumab treatment for hypercalcaemia in the setting of metastatic parathyroid carcinoma.Within two years of his original parathyroidectomy, he had metastatic recurrence diagnosed with progressive hypercalcaemia; imaging revealed three pulmonary nodules consistent w...

ea0050p064 | Bone and Calcium | SFEBES2017

Milk-alkali syndrome in the post PPI era

Hasan Faisal , Cheyne Elizabeth , Parfitt Vernon , Chau Fong , Tatovic Danijela

The milk – alkali syndrome was well known in the pre-proton pump inhibitor era when remedies for peptic ulcer included a large amount of calcium and sodium bicarbonate resulting in hypercalcaemia, metabolic alkalosis and often acute kidney injury. In a study done from 1998 to 2003, milk alkali syndrome was the cause of hypercalcaemia in 8.8 percent of the cases which is a significant percentage, so awareness about it is important.<p class="abste...

ea0050p065 | Bone and Calcium | SFEBES2017

Primary hyperparathyroidism – A retrospective review

Malhotra Gaurav , Palan Jessal Mitul , Alraheem Ali Abd , Fahey Andrew , Stephenson Kyle , Abott Amanda , Simon Godwin

Primary Hyperparathyroidism is one of the common endocrine disorders seen in an endocrine clinic. We retrospectively analysed patients referred with primary hyperparathyroidism over 1 yr (Oct 2013 - Sept 2014) and followed them over next 30 months. Patients with isolated secondary hyperparathyroidism were excluded. Few had secondary hyperparathyroidism in addition to primary hyperparathyroidism.50 patients with primary hyperparathy...

ea0050p066 | Bone and Calcium | SFEBES2017

Bilateral atypical femoral fractures after only 4-years of bisphosphonate therapy

Mills Edouard , Forbes Pat , Yee Michael , Cox Jeremy , Comninos Alexander N

We report a 64-year old female with a background of T2DM, renal transplantation requiring ongoing glucocorticoids, and treated toxic multinodular goitre. Following a traumatic T11 fracture and significant osteoporosis risk factors (female, postmenopausal, T2DM, glucocorticoid-use, sarcoidosis, and previous thyrotoxicosis), she was started on bisphosphonate therapy in 2012 with good concordance. Bone densitometry at the time demonstrated lumbar T...

ea0050p067 | Bone and Calcium | SFEBES2017

Playing tennis with off the chart Calcium levels !!

Ahmed Shaza , Hasan Faisal , Lonnen Kathryn , Cheyne Elizabeth , Johnson Andrew

Severe Hypercalcaemia can present as a life threatening emergency requiring urgent measures to lower the calcium. Usually, this is associated with Primary Hyperparathyroidism. It can result in obtundation, oliguria, anuria, collapse or arrhythmias. It is important to act fast and decisively to prevent fatal complications.We describe a 39 year old gentleman who was a tennis coach, who was brought after he collapsed in his bathroom. ...