Searchable abstracts of presentations at key conferences in endocrinology
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Society for Endocrinology BES 2013

ea0031p1 | Bone | SFEBES2013

GNA11 loss-of-function mutations cause familial hypocalciuric hypercalcaemia type 2 (FHH2)

Hannan Fadil , Nesbit M A , Howles Sarah , Babinsky Valerie , Cranston Treena , Rust Nigel , Hobbs Maurine , Heath III Hunter , Thakker Rajesh

Loss-of-function mutations of the calcium-sensing receptor (CaSR), a G-protein-coupled receptor (GPCR), result in familial hypocalciuric hypercalcaemia (FHH), a disorder of extracellular calcium homeostasis affecting the parathyroids and kidneys. However, around 35% of FHH patients do not have CaSR mutations. A form of FHH, designated FHH2, has been mapped to chromosome 19p. The GNA11 gene, encoding G-protein α11 (Gα11), a component of the CaSR sign...

ea0031p2 | Bone | SFEBES2013

Increased linear bone growth in SOCS2 knockout mice in response to GH is independent of systemic or local IGF1

Dobie Ross , MacRae Vicky , Pass Chloe , Jasim Seema , Ahmed Faisal , Farquharson Colin

Introduction: GH signalling is essential for post-natal linear bone growth. The systemic/local mechanisms responsible for GH action remain unclear as the importance of liver derived IGF1 on linear growth has recently been challenged.Aim: To unravel the underlying mechanisms of linear bone growth we exploited the suppressor of cytokine signalling-2 (SOCS2) KO mice which have enhanced linear growth despite normal systemic IGF1 and GH levels.<p class="a...

ea0031p3 | Bone | SFEBES2013

Mutations in CLC-5 cause disturbances in cytoskeletal dynamics and solute transport in Dent's disease renal proximal tubule cell-lines

Gorvin Caroline , Piret Sian , Baban Dilair , Wilmer Martijn , van den Heuvel Lambertus , Levtchenko Elena , Thakker Rajesh

Dent’s disease is a renal proximal tubular Fanconi disorder characterised by generalised loss of solutes incuding insulin, glucose, PTH, amino acids and vitamin-D binding protein and is associated with rickets in 25% and phosphaturia in ~40% of patients. Dent’s disease is caused by mutations in the chloride/proton antiporter CLC-5, which, with megalin and cubilin has a role in receptor-mediated endocytosis and vesicle trafficking. To further elucidate the role of CLC...

ea0031p4 | Bone | SFEBES2013

Contribution to bone mass and strength of osteoblast GH actions that are independent of local IGF1 production: lessons from the SOCS2 knockout mouse

Dobie Ross , MacRae Vicky , Huesa Carmen , van't Hof Rob , Ahmed Faisal , Farquharson Colin

GH is anabolic to the skeleton but its mode of action is unclear. Clues are available from the study of the suppressor of cytokine signalling-2 (SOCS2) KO mouse which has increased bone mass despite normal systemic IGF1 levels. Whilst suggesting direct GH effects on bone forming osteoblasts the precise signalling mechanisms remain unclear. The aims of this study were, therefore, to further detail the bone phenotype of SOCS2 KO mice and determine if GH promotes bone mass by mec...

ea0031p5 | Bone | SFEBES2013

Mimicking osteocytes in vivo using 3D collagen gels: development of a novel tool to study osteocyte biology

Scully Nicole , Evans Sam L , Mason Deborah J , Evans Bronwen A J

Osteocytes make up >90% of bone cells, are embedded in mineralised matrix where they form a communication network. Osteocytes differentiate from osteoblasts, and are thought to be mechano-sensitive. They are very difficult to isolate leading to a dependence on cell lines for in vitro studies of osteocyte biology. There is thus a need to develop new methods to study these cells. Recent publications indicate that osteoblasts maintained in in vitro 3D collagen g...

ea0031p6 | Bone | SFEBES2013

Retinoic acid and IGF1 stimulate the differentiation of human primary osteoblasts to osteocytes in 3D collagen gels

Goring Sarah , Scully Nicole , Mason Deborah , Evans Bronwen

Osteocytes differentiate from osteoblasts, are embedded in mineralised matrix and are critical regulators of bone remodelling. In vitro osteocyte models are currently limited to cell lines in monolayer, but these do not represent their 3D environment in vivo. We have recently shown that osteoblasts in 3D gels differentiate along the osteocytic pathway. Since retinoic acid (RA) has been shown to stimulate monolayer osteoblast/osteocyte differentiation, we have inv...

ea0031p7 | Bone | SFEBES2013

Alterations of CLC-5 expression, function and trafficking in Dent's disease

Gorvin Caroline , Wilmer Martijn , Piret Sian , Harding Brian , van den Heuvel Lambertus , Jat Parmjit , Lippiat Jonathan , Levtchenko Elena , Thakker Rajesh

Dent’s disease, due to mutations in the chloride/proton antiporter, CLC-5, represents one form of familial hypophosphataemic rickets. Dent’s disease patients also have: low-molecular-weight-proteinuria; hypercalciuria with nephrolithiasis and renal failure; and urinary loss of parathyroid hormone and vitamin D-binding protein, due to defective receptor-mediated endocytosis within the renal proximal tubule. However, there is variability in these clinical phenotypes su...

ea0031p8 | Bone | SFEBES2013

Excessive GH expression in bGH transgenic mice adversely alters bone architecture and quality

Lim Su-Vern , Marenzana Massimo , List Edward , Kopchick John , Korbonits Marta , Chenu Chantal

GH is an important anabolic hormone involved in the regulation of longitudinal bone growth. However, acromegaly patients have a higher prevalence of vertebral fractures despite normal bone mineral density (BMD), suggesting that overexpression of GH has adverse effects on skeletal architecture and strength. We used giant bovine GH (bGH) transgenic mice to analyse the effects of high serum GH levels on bone architecture and mechanical strength. Five month-old hemizygous male bGH...

ea0031p9 | Bone | SFEBES2013

Bone health in type 1 diabetes patients with celiac disease

Kota Sunil Kumar , Meher Lalit Kumar , Jammula Sruti , Modi Kirtikumar D

Objectives: Type 1 diabetes mellitus (T1DM) is associated with various autoimmune conditions including celiac disease. Both these conditions are independently and variably associated with risk of osteoporosis. The current study intended to study bone health parameters and factors affecting it in patients with T1DM with serological evidence of celiac disease (CD).Methods: A cross sectional study including 100 type one diabetes patients following up in our...

ea0031p10 | Bone | SFEBES2013

High throughput detection of early joint pathology in mouse models of osteoarthritis

Draghici A E , Waung J A , Bassett J H D , Williams G R

Articular cartilage maintenance and repair is regulated by numerous endocrine and paracrine factors. Investigation of molecular mechanisms underlying osteoarthritis (OA) is limited by inability to identify early stage disease and individuals at risk of progression. Susceptibility to OA is genetically determined and the availability of mice from the International Knockout Mouse Consortium with deletions of every known gene provides a unique opportunity to investigate its pathop...

ea0031p11 | Bone | SFEBES2013

Bone health in children with GH deficiency

Kota Sunil Kumar , Meher Lalit Kumar , Jammula Sruti , Modi Kirtikumar D

Objectives: The current study intended to assess the impact of GH deficiency (GHD) on bone health after using various size corrections.Methods: Thirty prepubescent children with GHD (male:female=20:10, mean age– 9.4±3.5 years) were included in the study. Data on anthropometry and total body bone mineral content (TBBMC), bone area (TBBA) and lean body mass (TBLBM) by dual energy X ray absorptiometry were collected. Anthropometric Z scores...

ea0031p12 | Bone | SFEBES2013

Vitamin D receptor polymorphisms and bone mass indices in post menarcheal Indian adolescent girls

Kota Sunil Kumar , Meher Lalit Kumar , Jammula Sruti , Modi Kirtikumar D

Objective: The aim of the present study was to assess the association between vitamin D receptor (VDR) gene polymorphism and bone mass indices in Indian adolescent girls.Methods: The current study was a cross sectional one including 100 post menarcheal girls aged 15–18 years. Serum levels of ionized calcium, inorganic phosphorus, alkaline phosphatase, parathyroid hormone and 25 hydroxy vitamin D were measured. bone mineral content (BMC), bone area (...

ea0031p13 | Bone | SFEBES2013

Identification of a novel heterozygous mutation in exon 50 of the COL1A1 gene manifesting clinically as osteogenesis imperfecta

Owen Nina , Reddy Narendra , Aftab Saboor AS , Harte Alison L , McTernan Philip G , Tripathi Gyanendra , Barber Thomas M

Introduction: Osteogenesis imperfecta (OI) is a rare, heterogeneous, genetic connective tissue disorder that manifests clinically as bone fragility, brittleness and growth disorder. Effective diagnosis is important (although often challenging) to enable institution of early and effective multidisciplinary management.The case: A 19-year-old woman was referred to the Endocrine clinic at the Warwickshire Institute for the Study of Diabetes, Endocrinology an...

ea0031p14 | Bone | SFEBES2013

Bone mass accrual following supplementation of vitamin D alone versus vitamin D+ calcium in underprivileged Indian premenarcheal girls

Kota Sunil Kumar , Meher Lalit Kumar , Jammula Sruti , Modi Kirtikumar D

Objective: To determine effectiveness of supplementing vitamin D alone vs vitamin D+ calcium on bone mass accrual in underprivileged Indian premenarcheal girls.Methods: A double blind, matched pair, cluster randomization study was carried out in 200 premenarcheal girls (8–12 years) from three public schools. The participants were randomized into two clusters and were allocated to receive either vitamin D (Group A): 30 000 IU oral cholecalciferol eve...

ea0031p15 | Bone | SFEBES2013

Primary hyperparathyroidism in patients with urolithiasis: prevalence and predictors

Kota Sunil Kumar , Meher Lalit Kumar , Jammula Sruti , Modi Kirtikumar D

Objective: To know the prevalence of primary hyperparathyroidism (PHPT) in urolithiasis and predictors of PHPT in urolithiasis.Methods: This cross sectional study was conducted between July 2005 and July 2012 in Department of Endocrinology and Urology at our hospital. In this study a total of 165 consecutive patients with urolithiasis with radioopaque stones were evaluated for clinical and biochemical profile. Stones retrieved were analyzed for type of s...

ea0031p16 | Bone | SFEBES2013

Impact of hyponatraemia in patients with fracture neck of femur

Shakher Jayadave

Introduction: Hyponatraemia, defined as serum sodium <135 mmol/l is commonest electrolyte abnormality and is frequently encountered in elderly population. It is associated with osteoporosis and falls and an independent risk factor for fractures. The reported 1-year mortality for fracture neck of femur is between 20 and 35%.Aim: To evaluate the impact of hyponatraemia on patients with fracture neck of femur compared to normonatraemia admitted to the h...

ea0031p17 | Bone | SFEBES2013

Risperidone associated changes in prolactin and bone mineral density: a study from South India

Paul Thomas , Ravan Jayaprakash Russell , Thomas Naveen , Thomas Nihal , Samuel Prasanna , Braganza Deepa

Background: Risperidone is a widely used antipsychotic, known to cause secondary hyperprolactinaemia. Hyperprolactinaemia is associated with erectile dysfunction, amenorrhea and reduced bone mineral density (BMD). However, there is insufficient information about the extent, severity and association between these side effects, particularly among the south Indian population.Aim and objectives: To estimate the prevalence of erectile dysfunction and amenorrh...

ea0031p18 | Bone | SFEBES2013

Predictors of low bone mineral density in an Irish cystic fibrosis (CF) cohort

McEnery Tom , Glynn Nigel , Gunaratnam Cedric , McElvaney Noel , Smith Diarmuid , McHenry Claire

Increased life expectancy in patients with CF has brought about novel challenges in their care. Osteoporosis in CF is associated with significant morbidity and is an exclusion criterion for lung transplantation. Recent evidence suggests an association between dysglycaemia and low bone mineral density (BMD). We aimed to determine predictors of bone loss in a cohort of CF patients attending a tertiary referral centre and, in particular, if dysglycaemia is linked with low BMD.</p...

ea0031p19 | Bone | SFEBES2013

Comparison of different measures of urinary calcium excretion in primary hyperparathyroidism

Smith Christopher , Gallagher Andrew , Gallacher Stephen , MacLean Fergus , Johnson Paul , Hinnie John

Patients with primary hyperparathyroidism (PHP) should have assessment of urinary calcium excretion as part of routine work up. This helps in the differential diagnosis of PHP in that urine calcium is low in familial benign hypocalciuric hypercalcaemia. Possible measures of calcium excretion include 24 h urine collection, spot sample for urine for urine calcium concentration and calcium/creatinine ratio (UCa/creat), and fractional excretion of calcium (FrExCa=urine calcium&#21...

ea0031p20 | Bone | SFEBES2013

Metabolic sydrome in women with osteoporosis on bisphosphonate therapy

Petkovic Milica Marjanovic , Zivkovic Teodora Beljic

Metabolic syndrome (MetS) is known to be associated with low levels of vitamin D. The association of vitamin D in postmenopausal women with MetS and osteoporosis has not been investigated. The aim of our investigation was to assess presence of MetS in postmenopausal women treated for osteoporosis.Metods: Fifty-nive women treated with weekly alendronate, vitamin D (Fosavance 5600, MSD) and calcium for 1 year were evaluated. The following parameters were a...

ea0031p21 | Bone | SFEBES2013

The utility of neck MRI in the localisation of parathyroid adenomas in primary hyperparathyroidism

Glynn Nigel , Pierce Brian , Hill Arnold DK , McHenry Claire , Smith Diarmuid , Thompson Chris , Keeling Frank , Agha Amar

Neck ultrasound (US) can facilitate minimally invasive parathyroidectomy by providing fine anatomical detail of enlarged parathyroid adenomas in patients with primary hyperparathyroidism (PHPT). The role of neck MRI in US negative/equivocal cases remains unclear. We aimed to evaluate the performance of neck MRI in parathyroid tumour localisation in the setting of negative or equivocal neck US.We performed a retrospective review of a consecutive series of...

ea0031p22 | Bone | SFEBES2013

Renal replacement therapy to treat severe hypercalcaemic crisis: case series

Prague Julia , Mustafa Omar , Whitelaw Ben , Jenkins Rebeka , Crown Anna , Vaughan Nick , Schulte Klaus-Martin , Diaz-Cano Salvador , McGregor Alan

Background: The initial management of hypercalcaemia is well described: aggressive intravenous rehydration and subsequent intravenous bisphosphonates if required. Isolated case reports document the use of haemo/peritoneal dialysis and haemofiltration in the management of severe hypercalcaemia. We report three cases that required renal replacement therapy to treat severe hypercalcaemia.Case series: A 21-year-old male presented with abdominal pain and vomi...

ea0031p23 | Bone | SFEBES2013

Audit of cost-saving following introduction of investigation protocol for primary hyperparathyroidism

Skelton Adam , Smith Christopher , McLaren Laura , Stobo David , Gallacher Stephen , Gallagher Andrew , MacLean Fergus , Hinnie John

This group has previously audited the effect of a protocol for investigation of primary hyperparathyroidism (PHP); the protocol stating that only patients meeting criteria for parathyroidectomy should have parathyroid imaging carried out. This showed a reduction in the number of radiological investigations (USS, CT, MRI and sestamibi scans) done in patients with primary hyperparathyroidism following introduction of this protocol.The aim of this audit was...

ea0031p24 | Bone | SFEBES2013

Effect of bone mineral density in patients with non-functioning pituitary adenoma

Min Aye Aye , Murray Robert

We look into total 67 patients with non-functioning pituitary adenoma and review their bone mineral density in association with age and gender, effect of radiotherapy and hormonal replacement.Age range: 5.97% (4 patients) are between 18 and 40 years, 43.28% (29 patient) between 41 and 60 years and 50.74% (34 patients) are between 61 and 86 years.Gender: 61.19% (41 patients) are male and 38.8% (26 patients) are female.<p class="...

ea0031p25 | Bone | SFEBES2013

Proximal myopathy: a diagnostic dilemma

Kamath Akshatha Taranath , Nagarajaiah Rajesh Karalumangala , Kuriakose Moni Abraham , Kumar Sampath Satish

Vitamin D deficiency with secondary hyperparathyroidism is common in South-east Asia. In contrast, primary hyperparathyroidism is relatively rare. We present a case of severe proximal myopathy with significant diagnostic delay.A 23-year-old lady presented with a 2 years history of lower back pain, radiating to both groins and upper thighs associated with recurrent falls. Her pain and weakness progressed insidiously leading to difficulty standing or walki...

ea0031p26 | Bone | SFEBES2013

Audit of primary hyperparathyroidism management: do we adhere to the guidelines?

Vas Prashanth , Tariq Adnan , Butt Muhammad

Introduction: Primary hyperparathyroidism (PPTH) is a common referral to endocrine clinics with a clinical spectrum ranging from an asymptomatic state to a symptomatic disorder with or without end organ damage. We audited our management against the NIH guidelines which are endorsed by the Endocrine Society.Methods: There is no outpatient coding system to correctly identify all patients with primary hyperparathyroidism. We included patient on radiology da...

ea0031p27 | Bone | SFEBES2013

The diagnosis of osteoporosis among subjects of Southern Indian origin above 50 years of age: the impact of the indian council of medical research vs caucasian bone mineral density reference standards

Paul Thomas , Mruthyunjaya Mahesh , Shyamasunder Asha , Naik Dukhabandu , Rajaratnam Simon , Thomas Nihal , Seshadri Mandalam

Introduction: In the year 2010, the Indian Council of Medical Research (ICMR) has published a normative data for mone mineral density (BMD) measured by dual energy X-ray absorptiometry (DXA) scanning. However, its impact on the diagnosis of osteoporosis when compared to currently used Caucasian database has not been analysed.Objectives: To study the effect of the newly generated ICMR database (ICMRD) on the diagnosis of osteoporosis compared with the Hol...

ea0031p28 | Bone | SFEBES2013

Not the end of brown tumours: three cases within 12 months

McElwaine Fred , Courtney Hamish , Mullan Karen

A 37-year-old woman presented with a short history of left arm pain. X-ray indicated a lytic lesion of the scapula. Calcium was elevated at 3.25 mmol/l (normal 2.2–2.6) with parathyroid hormone (PTH) 936 pg/ml (5–70). Upon questioning she reported nocturia, polydipsia and dyspepsia. Magnetic resonance imaging revealed brown tumours in the scapula, clavicle and hand. A superior parathyroid adenoma was excised with normalisation of calcium. Bone biopsy of the scapular ...

ea0031p29 | Bone | SFEBES2013

A case of severe immobilization hypercacemia in a young patient on neurorehabilitation unit

Shiraz Ahmad , Clark Roger , Howell Simon , Kaushal Kalpana

Introduction: Immobilization hypercalcemia (IH) is more common in children and adolescent due to increased rate of bone turnover and it usually develop 4–6 weeks post trauma but it can begin as early as 2 weeks and as late as six months. We report a patient who developed severer hypercalcemia after sustaining multiple fractures and immobilization.CaseA 24-year-old man was admitted for neurorehabilitation after road traffic acc...

ea0031p30 | Bone | SFEBES2013

Cinacalcet treatment for hypercalcaemia in primary hyperparathyroidism

Seetho Ian , Qazi Shah , Amin Pesh , Rea Rustam

Introduction: Cinacalcet acts at the calcium-sensing receptors on parathyroid cells to increase the sensitivity to circulating calcium concentrations. Studies have shown that this treatment is an effective means of managing hypercalcaemia in primary hyperparathyroidism.Aims: The aim of this study was to determine the outcomes of patients who had received cinacalcet for at least 3 months for primary hyperparathyroidism.Methods: We i...

ea0031p31 | Bone | SFEBES2013

AUDIT of patients referred for DXA scanning in a south Indian Tertiary care centre

Paul Thomas , Mruthyunjaya Mahesh , Shyamasunder Asha , Naik Dukhabandu , Rajaratnam Simon , Thomas Nihal

Introduction: Osteoporosis is a silent disease and fractures pose enormous medical and financial burden on ageing individuals. Also subjects of younger age are at risk for subnormal bone mineral density when they have systemic disorders like rheumatoid arthritis or on long-term medications like corticosteroids. Preventive measures can be initiated if osteoporosis is diagnosed and treated before any fracture occurs. Even after the first fracture has occurred, there are effectiv...

ea0031p32 | Bone | SFEBES2013

Audit of management of patients with primary hyperparathyroidism in district general hospital

Bujanova Jana , Akiboye Funke , Coppini David , Poole Ruth

Aim: The aim of this audit was to evaluate our adherence to current recommendations by Third International Workshop on the Management of Asymptomatic Primary Hyperthyroidism.Method: We audited 50 cases from our database of patients with PHPT diagnosed between 2007 and 2012.Results: 21/50 (42%) were referred for surgery with 19/21 operated. All referred patients had SESTA MIBI preoperative localisation scan. 19/21 had USS in additio...

ea0031p33 | Bone | SFEBES2013

Osteogenic malignancy and severe vitamin D deficiency (osteogenic osteomalacia)

Postlethwaite Carol , Thomas Amy , Goulden Peter , Kumar Jesse

Introduction: Vitamin D deficiency is increasingly being recognized as a metabolic disorder in temperate climates with various bone, cardiovascular and systemic manifestations. However topical, it is important to exclude tumour induced osteogenic osteomalacia as a possible aetiology in severe vitamin D deficiency when other risk factors (vegetarian diet, ethnicity, etc.) are absent. Early diagnosis of malignant tumors could be life saving and their resection may make this vita...

ea0031p34 | Bone | SFEBES2013

Osteogenic malignancy and severe vitamin D deficiency (Osteogenic osteomalacia)

Postlethwaite Carol , Thomas Amy , Ulahannan Thomas , Kumar Jesse

Introduction: Vitamin D deficiency is increasingly being recognized as a widely prevalent metabolic disorder in temperate climates with various systemic manifestations. However topical, it is important to exclude tumour induced osteogenic osteomalacia as a possible aetiology in severe vitamin D deficiency when other risk factors (vegetarian diet, ethnicity, etc.) are absent. Early diagnosis of malignant tumours could be life saving and their resection may make this vitamin D r...