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Endocrine Abstracts

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Society for Endocrinology BES 2014

Poster Presentations

Bone

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Clinical biochemistry

ea0034p1 | Bone | SFEBES2014

Primary hyperparathyroidism in pregnancy

Abbas Jehangir , Bilous Rudy

Introduction: We submit a rare presentation of primary hyperparathyroidism in pregnancy posing complex management difficulties.Case report: A 32-year-old Asian woman presented during third trimester of her pregnancy with symptoms of lethargy, leg pain, and weakness. Routine investigations revealed an elevated calcium level (3.83 mM) and PTH level of 231.1 ng/l. She was treated with i.v. fluids and pamidronate. An ultrasound of her thyroid gland showed a ...
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ea0034p2 | Bone | SFEBES2014

Primary hyperparathyroidism in pregnancy presenting as hyperemesis

Manjunatha Rashmi , Nippani Jyothi , Markham Deborah , Mahto Rajni

Primary hyperparathyroidism in pregnancy can be associated with serious complications. Maternal complications include, increased risk of pre-eclampsia/eclampsia, miscarriage, arrythmia during labour/delivery, and still/premature birth. Neonatal complications include risk of permanent hypoparathyroidism, tetany, seizures, hypotonia, low birth, weight and respiratory distress. Early part of second trimesters is the best time to operate, as risks of surgery and anaesthesia are mi...
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ea0034p3 | Bone | SFEBES2014

The utility of bone turnover markers in Paget's disease of bone

Hannon Mark J , Frizelle Isolda M , Kilbane Mark , McKenna Malachi J

Bone turnover markers (BTMs) may have a role in assessing bone turnover and response to intervention in Paget’s disease. We examined the clinical utility of bone turnover markers at diagnosis through analysis of our database of patients with radiographically confirmed Paget’s disease.We identified 36 patients (20 men); mean age at diagnosis was 71.6 years (range 54–84). Radionuclide imaging identified that 64% had polyostotic disease, with...
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ea0034p4 | Bone | SFEBES2014

An audit of the clinical indications for initiation of Denosumab as a treatment for Osteoporosis in a secondary care clinic

Collie Angela , Phyomaung Khun , Shahim Menai , Gallacher Stephen , Gallagher Andrew , McLean Fergus , Ahukannah John , Hinnie John

Objective: Denosumab is a highly specific MAB, which binds to RANK Ligand thus inhibiting osteoclast formation, function and survival1.It’s efficacy in the treatment of osteoporosis was demonstrated in the FREEDOM trial which was an international, randomised, placebo controlled trial involving 7686 post menopausal women. The trial demonstrated a reduction in risk for vertebral fractures (68%), non vertebral fractures (20%), and hip fractu...
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ea0034p5 | Bone | SFEBES2014

Value of sequential 25-hydroxyvitamin D measurements prior to denosumab and zoledronic acid treatment

Singh Pushpa , Gittoes Neil

Patients receiving parenteral forms of treatment for osteoporosis (e.g. denosumab (DMAB) and zoledronic acid (ZOL)) should be vitamin D replete prior to administration, to minimise the risk of hypocalcaemia. Most patients receiving DMAB or ZOL take supplemental (calcium and) vitamin D but it is widely accepted that adherence to calcium and vitamin D is poor. Frequency of testing 25-hydoxyvitamin D (25OHD), calcium and renal function varies widely between centres in the UK. In ...
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ea0034p6 | Bone | SFEBES2014

Impact of vitamin D replacement in patients with primary hyperparathyroidism and co-existing vitamin D deficiency

Das Gautam , Eligar Vinay , Govindan Jyothish , Davies Stephen

Introduction: Vitamin D deficiency/insufficiency in patients with primary hyperparathyroidism may be associated with more severe and progressive disease. In such patients there is higher levels of parathormone and markers of bone turnover, large parathyroid adenomas and more frequent fractures than vitamin D replete patients.Aims and objectives: To determine whether vitamin D repletion of patients with PHPT and co-existing vitamin D insufficiency or defi...
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ea0034p7 | Bone | SFEBES2014

Monitoring the bisphosphonate treatment holiday

Mumby Clare , Azmi Shazli , Selby Peter , Hayden Katharine , Adams Judith

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...
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ea0034p8 | Bone | SFEBES2014

Liraglutide, a glucagon-like peptide-1 receptor agonist, improves bone mass and architecture in ovariectomised mice

Pereira Marie , Jeyabalan Jeshmi , Jorgensen Camilla Sofie , Cleasby Mark , Hopkinson Mark , Chenu Chantal

The increased incidence of type 2 diabetes mellitus (T2DM) among the aged is associated with an impaired skeletal structure and a higher prevalence for bone fractures. Besides, anti-diabetic therapies can also negatively affect bone mass. In this study, we tested the skeletal effects of chronic administration of two glucagon-like peptide receptor (GLP-1R) agonists and examined the expression of GLP-1R in bone tissue and cells. Twelve week-old female C57Bl/6N mice were ovariect...
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ea0034p9 | Bone | SFEBES2014

Pre-operative localisation studies in primary hyperparathyroidism: concordance with surgical findings and histology

McKeever Edward , Kennedy Robert , Kirk Stephen , Harper Roy , McLaughlin Darren , Mulligan C , Lynch Tom , Majury Clive , McHenry CM

Successful minimally invasive parathyroidectomy for primary hyperparathyroidism depends on accuracy of pre-operative localisation studies. Ultrasound (US) and sestimibi (SM) scanning remain the imaging modalities of choice reserving MRI, CT and PET for patients who have not been cured by previous explorations or for whom other localization techniques are uninformative or discordant. The aim of this study was to review the accuracy of US and SM in the pre-operative localisation...
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ea0034p10 | Bone | SFEBES2014

Abstract Withdrawn....
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ea0034p11 | Bone | SFEBES2014

Unusual cause of hypocalcemia

Pelluri Lavanya , Hariman Christian , Murthy Narasimha

Introduction: We present a rare cause of hypoparathyroidism and hypocalcemia and implications of the same during pregnancy.Case report: A 22-year-old primigravida was referred to the antenatal endocrine clinic with a longstanding history of hypoparathyroidism with hypocalcaemia. She had short stature and extended digits relative to her height. She has been taking alfacalcidol 0.5 μg once a day and adcal D3 tablets and blood tests revealed low normal...
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ea0034p12 | Bone | SFEBES2014

The influence of gender on the bone health of adolescent patients with hormonal deficiencies

Grounds Kerrie , Corlett Pamela , Ahmad Aftab , Whittingham Pauline

Introduction: Previous audits demonstrated low bone mineral density (BMD) in adolescent patients with hormone deficiencies. We wanted to ascertain if gender had any relationship with the development of low BMD.Method: A retrospective analysis of 42 transitional clinic patients who underwent DEXA scanning was made using case notes and hospital systems. Follow-up data was gathered as previous audit of 25 transitional patients had shown a significant number...
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ea0034p13 | Bone | SFEBES2014

Mutational analysis of the adaptor protein 2 sigma subunit (AP2S1) gene: search for autosomal dominant hypocalcaemia type 3 (ADH3)

Rogers Angela , Nesbit M Andrew , Hannan Fadil M , Howles Sarah A , Cranston Treena , Allgrove Jeremy , Bevan John S , Bano Gul , Brain Caroline , Datta Vipan , Hodgson Shirley V , Izatt Louise , Millar-Jones Lynne , Pearce Simon H , Robertson Lisa , Selby Peter L , Shine Brian , Snape Katie , Warner Justin , Thakker Rajesh V

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...
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ea0034p14 | Bone | SFEBES2014

Clinical studies of adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 reveal genotype–phenotype correlations and effectiveness of cinacalcet

Hannan Fadil , Rogers Angela , Howles Sarah , Cranston Treena , McKenna Malachi , Richardson Tristan , Babinsky Valerie , Reed Anita , Thakker Clare , Bockenhauer Detlef , Brown Rosalind , Cook Jacqueline , Darzy Ken , Ehtisham Sarah , Graham Una , Hulse Tony , Hunter Steven , Kumar Dhavendra , McKnight John , Morrison Patrick , Mughal Zulf , Pearce Simon , Scheers Isabelle , Wang Timothy , Whyte Michael , Nesbit M Andrew , Thakker Rajesh

Familial hypocalciuric hypercalcaemia (FHH) comprises three types: FHH1, FHH2, and FHH3, which are due to mutations of the calcium-sensing receptor (CaSR), G-protein α 11 subunit (Gα11), and adaptor protein-2 sigma subunit (AP2σ), respectively. The aims of this study were: to assess for genotype–phenotype correlations among the three reported FHH3-causing AP2σ mutations, which all involve the Arg15 residue, and comprise Arg15Cys, Arg15His, and Arg15Leu...
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ea0034p15 | Bone | SFEBES2014

Identification of 12 adaptor protein-2 sigma 2 subunit mutations in familial hypocalciuric hypercalcaemia type 3 and expansion of phenotypic spectrum.

Rogers Angela , Hannan Fadil M , Howles Sarah A , Cranston Treena , Thakker Clare E , Bockenhauer Detlef , Brown Rosalind , Cook Jacqueline A , Darzy Ken , Ehtisham Sarah , Hulse Tony , Kumar Dhavendra , McKenna Malachi , McKnight John , Mughal Zulf , Pearce Simon H , Richardson Tristan , Scheers Isabelle , Wang Timothy , Nesbit M Andrew , Thakker Rajesh V

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterized by hypercalcaemia and inappropriately low urinary calcium excretion, and is occasionally associated with acute pancreatitis. FHH can be classified into three types: FHH type 1, caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), which accounts for >65% of cases; FHH type 2, due to loss-of-function mutations of the G-protein α 11 subunit (Gα11), of ...
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ea0034p16 | Bone | SFEBES2014

Role of cortisol in the pathogenesis of postmenopausal osteoporosis: relationship to bone structure

Debono Miguel , Bratherton Selina , Paggiosi Margaret , Gossiel Fatima , Keevil Brian , Ross Richard , Eastell Richard

Background: Excess glucocorticoids are well recognised as a cause of osteoporosis; they inhibit osteoblast function and increase osteoblast and osteocyte apoptosis resulting in thinning of the trabeculae. The circadian rhythm of bone turnover, which is linked to cortisol rhythm, is abnormal in osteoporosis. Furthermore, some studies show abnormal cortisol metabolism in osteoporosis. The aim of our study was to evaluate the day–night rhythm of cortisol and to relate cortis...
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ea0034p17 | Bone | SFEBES2014

The calcilytic NPS2143 rectifies the gain-of-function associated with G-protein α 11 mutations causing autosomal dominant hypocalcaemia type 2

Babinsky Valerie , Hannan Fadil , Nesbit M Andrew , Howles Sarah , Hu Jianxin , Spiegel Allen , Thakker Rajesh

Autosomal dominant hypocalcaemia (ADH) is a disorder that needs to be distinguished from hypoparathyroidism, as ADH patients are at risk of nephrocalcinosis and renal failure when treated with activated vitamin D preparations. ADH types 1 and 2 are due to gain-of-function mutations of the calcium-sensing receptor (CaSR) and G-protein α 11 (Gα11), respectively. CaSR targeted drugs, known as calcilytics, rectify the gain-of-function associated with ADH1-causing mutatio...
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ea0034p18 | Bone | SFEBES2014

Baseline characteristics of patients presenting with primary hyperparathyroidism

Blackwell Alice , Ameen Zana , Goellner Sarah , Tahrani Abd , Bates Andrew , Rahim Asad

Introduction: Guidelines have, for some time, suggested a lower threshold for surgical intervention in primary hyperparathyroidism based on serum calcium alone. Furthermore, PHPT is a common metabolic bone disorder which is associated with further complications. In order to assess the impact of the lower threshold on surgical services and management implications for associated complications, we report baseline characteristics in a cohort of patients with confirmed PHPT.<p ...
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ea0034p19 | Bone | SFEBES2014

Treatment of vitamin D deficiency in primary hyperparathyroidism (PHPT) with different vitamin D preparations.

Goellner Sarah , Ameen Zana , Blackwell Alice , Tahrani Abd , Bates Andrew , Rahim Asad

Introduction: Eighty percent of patients with PHPT have co-existing vitamin D deficiency. Few large studies have assessed the impact/safety of different vitamin D preparations on calcium, PTH and vitamin D in such patients. We report the use of three different preparations.Methods: In a retrospective study of 125 patients with confirmed PHPT, 77% were vitamin D deficient (<30 nmol/l)/insufficient (30–50 nmol/l). We assessed the impact and safety...
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ea0034p20 | Bone | SFEBES2014

Is parathyroid hormone venous sampling useful? Correlation of parathyroid hormone selective venous sampling and histopathological results in patients who underwent parathyroidectomy between 2006 and 2013

Rys Andrzej , Dyer Robert , Cunliffe David , Hickey Simon , Seymour Richard

Patients with primary hyperparathyroidism (PHPT) undergo parathyroid ultrasound, Tc-99 m sestamibi scan or MRI to localize hyperfunctioning parathyroid gland(s). When scans are negative or discordant we perform parathyroid hormone selective venous sampling (PTHSVS).We report the results of 17 patients (Four males, 13 females, average age 58.6) with PHPT, who underwent PTHSVS followed by either focused parathyroidectomy (FP) or bilateral neck exploration ...
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ea0034p21 | Bone | SFEBES2014

Predictors of postoperative hypocalcaemia in parathyroidectomy patients: local audit

Katreddy Venkata , Blundell David , Buch Harit

Introduction: Parathyroidectomy is the treatment of choice for patients with primary hyperparathyroidism who have significant hypercalcemia and/or end-organ damage. The incidence of postoperative hypocalcaemia is 25–90% in patients with evidence of radiological evidence of parathyroid disease, 0–6% without. In most patients it is mild, but in some, it can cause significant morbidity. It has been attributed as ‘hungry-bone syndrome’ and attempts have been ma...
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ea0034p22 | Bone | SFEBES2014

A rare germline Leu63Pro missense mutation in CDC73 resulting in familial primary hyperparathyroidism with variable phenotype

Seejore Khyatisha , Murray Robert , Orme Stephen , Abbas Afroze

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder. However, a familial hyperparathyroid syndrome is diagnosed in less than 5% of cases. We present two related cases of CDC73-related familial hyperparathyroidism due to a rarely described germline Leu63Pro missense mutation in CDC73 exon 2.Case report: The index patient, a 24-year-old female, presented acutely unwell with symptoms of hypercalcaemia. Her blood...
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ea0034p23 | Bone | SFEBES2014

Hypogonadism masquerading as metabolic bone disease in an young male

Jeeragi Mallikarjuna , Bhattacharyya Arpandev , Vidhyadhara S , Prabhakar Karthik

A 38-year-old farmer presented to Orthopaedics Department with backache and progressively increasing difficulty in walking for a year. MRI spine showed multiple central vertebral fractures suggestive of possible metabolic bone disease/oncogenic osteomalacia; he was hence referred to Endocrinology Department.He was in pain. No previous history of trauma, no gastrointestinal or urinary symptoms. He however reported erectile dysfunction. On...
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ea0034p24 | Bone | SFEBES2014

Unusual parathyroid location: a case of primary hyperparathyroidism with failed right parathyroidectomy

Vakilgilani Tannaz , Ling Youngyoung , Woods David , Falinska Agnieszka , Todd Jeannie F

19-year-old gentleman was initially investigated by his local hospital when he presented with 2-year history of diarrhoea, intermittent abdominal pain, sweating, and depression with suicidal ideation. His only past medical history was eczema. His maternal grandmother had PTHP aged 50 years. A paternal grandmother had colon and pancreatic cancer and cousin had Graves’ disease.Gastroenterology investigations were normal. However he was found to have h...
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ea0034p25 | Bone | SFEBES2014

Is the response to high dose oral vitamin D replacement predictable?

Chandrajay Deepak , Milic Marina , Al-Khaili Gwen , Abbas Afroze , Orme Stephen

In our institution, an observed loading dose of oral colecalciferol (D3) 300 000 units is used for treatment of vitamin D deficiency (Vit D <30 nmol/l), with subsequent re-evaluation at 6 weeks and 3 months. We evaluated the follow-up of all the patients who received loading dose colecalciferol against adherence to this protocol.Method: All patients who received observed loading dose of colecalciferol for a 1-year period were included. Demographic, c...
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ea0034p26 | Bone | SFEBES2014

Functional read out of defective osteoclast function in an in vitro model of Gaucher's disease

Nijjar Sarbjit , Gittoes Neil , Geberhiwot Tarekegn

Gaucher’s disease is an inherited disorder caused by loss or reduced activity of the lysosomal enzyme glucocerebrosidase (GBA). Nearly 80% of patients with Gaucher’s disease develop abnormal bone remodelling with severe consequences, including bone crises, osteonecrosis and osteoporosis related fractures. Although enzyme replacement therapy is effective at alleviating most manifestations of the disease, only modest improvements in bone health can be achieved. The rea...
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ea0034p27 | Bone | SFEBES2014

The diagnosis of osteoporosis among South Indian male and female subjects with low impact hip fracture and comparison between Indian Council of Medical Research and Caucasian Bone Mineral Density Databases

Thomas Nihal , Shetty Sahana , Kapoor Nitin , Asha H S , Naik Dukhabandhu , Visalakshi P , Paul Thomas

Aims and objectives: This study was undertaken to look at the agreement between the hologic database (HD) based on NHANES bone mineral density (BMD) data in Caucasians and the ICMR database (ICMRD) published in 2010 in defining normal and subnormal BMD in subjects with or without hip fracture and to arrive at a BMD cut off which has a high sensitivity of predicting fracture.Materials and methods: A cross sectional study of 3098 subjects (men-341 and wome...
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ea0034p28 | Bone | SFEBES2014

Evaluation of a glucocorticoid-induced osteoporosis model using ImageJ

Pacheco-Pantoja Elda , Arias-Garcia Francisco , Montes-de-Oca Ximena , Hernandez-Rosado Sergio , Cab-Cesar Luis , Rojano-Carrillo Brahim , Rico-Toro Gustavo

Glucocorticoid-induced osteoporosis is the most common form of secondary osteoporosis. The primary effects are on osteoblasts and osteocytes. Glucocorticoids impair the replication, differentiation and function of osteoblasts. These effects lead to a suppression of bone formation, characteristically in the pathogenesis of this form of osteoporosis. On the other hand, available software for image analysis are expensive, inflexible or methodologically dense. ImageJ, an open sour...
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ea0034p29 | Bone | SFEBES2014

The worlds of primary and secondary hyperparathyroidism often collide; what effect do variable regimens of supplementing vitamin D have in primary hyperparathyroidism?

Ugur Antonia , Ward Emma

Introduction: Primary hyperparathyroidism causes accelerated bone turnover and the consensus is to measure and act upon the 25hydroxyvitamin D level in order to reduce the drive to PTH production, slow down BMD loss, and prevent hungry bone syndrome. How best to replace vitamin D is less clear so we chose to audit our current practice.Method: In 12 months 120 patients with primary hyperparathyroidism were identified retrospectively, 98 of which were vita...
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ea0034p30 | Bone | SFEBES2014

An ectopic parathyroid adenoma presenting with reduced conscious level and severe hypertension

Wiebel Rediet , Lambert Kimberley , Nasruddin Azraai

A 77-year-old lady presented with reduced conscious state, dysphasia and profound confusion on a background of behavioural change and anorexia over the previous 10 days. She was previously independent with history of hypertension controlled on atenolol (100 mg). She was significantly hypertensive 200/100. Her serum calcium was elevated at 4.01 mmol/l (2.05–2.60). The serum parathyroid hormone (PTH) was also significantly elevated at 26 pmol/l (0.5–6.4) consistent wit...
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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