Searchable abstracts of presentations at key conferences in endocrinology
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39th Meeting of the British Society for Paediatric Endocrinology and Diabetes

ea0027p1 | (1) | BSPED2011

The vitamin D status of Irish children

Carroll Aoife , Mayne Philip , Murphy Nuala

Aim: To determine the vitamin D status among healthy Irish children.Methods: Over a 12 month period (February 2010–February 2011) well children aged 1–16 years attending for minor elective surgical procedures and medical outpatients were recruited. 25 OH vitamin D3, parathyroid hormone and bone profile were measured and a detailed questionnaire (dietary vitamin D intake, vitamin D supplements, sunlight exposure and Ethnicity) was com...

ea0027p2 | (1) | BSPED2011

Vitamin D supplementation for chronically ill patients: where are we?

Atapattu Navoda , Shaw Nicholas , Hogler Wolfgang

Introduction: ‘At risk’ groups for vitamin D deficiency have long been identified, including the chronically ill. According to guidelines published by the European Society of Endocrinology (ESPE, 2002), the American Academy of Paediatrics (AAP, 2008) and the Endocrine Society (ENDO, 2011), vitamin D levels should be measured in chronically ill or at risk patients. We aimed to test the current knowledge of these guidelines amongst consultants in a large tertiary hospi...

ea0027p3 | (1) | BSPED2011

Vitamin D deficiency in obese Irish children

Carroll Aoife , Mayne Philip , Murphy Nuala

Aim: To determine the vitamin D status of obese Irish children.Methods: Obese children (BMI >97th percentile) attending a weight management programme were recruited over a 12 month period (February 2010–February 2011). 25OH vitamin D3, parathyroid hormone levels and bone profile were measured. Each patient was matched to a control patient for age, sex and season.Results: Thirty-one obese children (19 female) wer...

ea0027p4 | (1) | BSPED2011

Breaking bones or breaking the bank? A study of vitamin D insufficiency

Spaull Robert V V , Rafiq Anjum , Puthi Vijith R

Retrospective data collection was performed for all of the paediatric vitamin D (25-hydroxycolecalciferol) serum samples analysed over the preceding 13 months. Around 300 requests were made for vitamin D sampling by various medical professionals including paediatricians (72%), general practitioners (13%), and orthopaedic surgeons (16%). 231 samples, costing £9 per sample, were analysed on 200 patients, predominantly for clinical indications such as growing pains, tubercul...

ea0027p5 | (1) | BSPED2011

The usefulness of vitamin D measurements in a busy General Paediatric Unit

Olety Santhosh , Nathwani Nisha , Housley David , Eisenhut Michael

Aim: Audit was undertaken to study patient profile, prevalence, treatment choice and interrelation between biochemical markers in vitamin D deficient children.Methods: Retrospective review of case notes for patients who had vitamin D measured over the period 5/2005 and 5/2010.Results: Study included 150 randomly selected patients from a total of 336. 99 (66%) were found to be deficient in vitamin D, 52 females and 47 males. Peak ag...

ea0027p6 | (1) | BSPED2011

Vitamin D status of children and adolescents attending an Endocrinology Clinic

Roddy Marie , Roche Edna

Introduction: The importance of vitamin D beyond bone health is increasingly recognised. As a result Ireland has recently introduced a policy of vitamin D supplementation for all infants. A vitamin D level of 50 nmol/l for children/adolescents has been recommended as sufficient (1). We sought to establish the vitamin D status in children and adolescents attending a Paediatric Endocrinology Department and explore the relationship between vitamin D status and age, sex, body mass...

ea0027p7 | (1) | BSPED2011

Effect of patient choice and hospital tracking on short term growth in children treated with GH therapy

Atapattu Navoda , Casey Angela , Prior Julia , Howarth Isobel , Zia Rani , Akhtar Saeeda , Davies Paul , Kirk Jeremy

Introduction: Most (89%) UK units offer some form of free patient choice for new paediatric patients commencing GH therapy. Initial data indicates that patient choice improves adherence, resulting in improved growth (height velocity) short-term.Objective: To compare outcome measures between patients offered free choice and/or hospital supply (including home services and adherence tracking assessed using ampoule counting) with GH therapy with those who di...

ea0027p8 | (1) | BSPED2011

Audit of diagnostic criteria and growth outcomes over 2 years in children with congenital hypothyroidism

Harris Danielle , Warner Justin

Introduction: The UK Newborn Screening Programme provide guidelines which facilitate diagnosis and treatment of congenital hypothyroidism (CHT). Prompt treatment is important to ensure normal growth and development. This audit examines initial findings and growth over the first 2 years of life in CHT associated with agenesis, ectopia or dyshormonogenesis of the gland.Methods: Patients were identified from the University Hospital of Wales paediatric endoc...

ea0027p9 | (1) | BSPED2011

A survey of patient/carer opinions and preferences on choice of GH injection device

Fisher Benjamin G , Gorman Samantha , Reyes Karis , Sparrow Susan , Acerini Carlo L

Introduction: Approximately 3200 children and young people in the UK receive GH therapy. Currently 12 different GH injection devices are available, with NHS guidance (NICE-TA188) recommending that patients/carers should have a choice of product. Whilst there is evidence that offering such choice may improve treatment adherence, little is known about its importance to patients/carers, nor whether device preferences should be reviewed after a period of treatment.<p class="ab...

ea0027p10 | (1) | BSPED2011

A longitudinal study of pubertal growth in inflammatory bowel disease

Mason A , Russell R K , Bishop J , McGrogan P , MacIntyre H E , Ahmed SF

Background: Delayed puberty and related problems with growth and body image in Crohn’s disease (CD) and ulcerative colitis (UC) have rarely been quantified.Methods: A longitudinal prospective observational study of children with IBD who had anthropometric and puberty data at 0 and 6 months. Of 50 recruited, there were 15 boys (CDM) and 20 girls (CDF) with CD and ten boys (UCM) and five girls (UCF) with UC. The four groups had a median age at 0 month...

ea0027p11 | (1) | BSPED2011

Audit of use of transdermal oestradiol for pubertal induction in girls

Matthews Debbie

Girls with ovarian failure or delayed puberty may be treated with incremental doses of oestrogen to induce puberty. Transdermal natural oestradiol is more physiological than oral synthetic ethinyl oestradiol but it is unclear how effective it is for inducing puberty and whether it confers any benefit.The aims of the audit were to review whether transdermal oestradiol was effective in inducing puberty, the optimal dosing regimen, effects on breast develop...

ea0027p12 | (1) | BSPED2011

The European DSD register: a platform for International Collaborative Research

Rodie Martina , Sinnott Richard , Jiang Jipu , Ahmed Faisal

Effective research into understanding the aetiology of disorders of sex development (DSDs), as well as long-term outcome of these rare conditions, requires multicentre collaboration often across national boundaries. The EU-funded EuroDSD programme ( is one such collaboration involving clinical centres and clinical and genetic experts. At the heart of the EuroDSD collaboration is a DSD register that supports the sharing of DSD ...

ea0027p13 | (1) | BSPED2011

The dihydrotestosterone assay for identifying 5α-reductase deficiency: a five-year audit from a UK tertiary Paediatric Centre

Martin Iain , Smee Natalie , Mcneilly Jane , Rodie Martina , Ahmed Faisal

Background: The DHT RIA is often used in the assessment of children with suspected DSD. Affected cases have a history of consanguinity in ≤50% and many may not have a non-Caucasian background (Maimoun et al., JCEM, 2011). We aimed to assess the clinical utility of the DHT RIA in identifying cases of 5-ARD.Methods: All DHT requests in a 5 year period in a major UK tertiary paediatric centre were identified and case notes were retrieved and se...

ea0027p14 | (1) | BSPED2011

Height outcome in children with testotoxicosis

Flowers Josephine , Cheetham Tim , Johnstone Helen

Introduction: Testotoxicosis and other causes of precocious puberty can result in compromised final adult height and various treatments have been used in an attempt to address this. We report final height data in children with testotoxicosis who were treated with a variety of regimens and who have attained/are predicted to attain, a final height in excess of the mid-parental target.Patients and methods: Growth data from four patients with activating muta...

ea0027p15 | (1) | BSPED2011

LIN28 in human ovary development and as a candidate gene for primary ovarian insufficiency

El-Khairi Ranna , Parnaik Rahul , Lin Lin , Dattani Mehul , Conway Gerard , Achermann John

Background: The Lin28 family of proteins are emerging as important regulators of microRNAs in endocrine systems. Lin28a influences primordial germ cell development in mice, and overexpression of Lin28a in transgenic mice has recently been shown to influence body size, timing of puberty and litter size. The related protein LIN28B is associated with age at menarche and stature in several independent genome-wide association studies in humans.A...

ea0027p16 | (1) | BSPED2011

GH stimulation testing: how discrepant are its diagnostic tests?

Bhat Gayathri , Knight Olivia , Barrett Timothy , Kirk Jeremy

As the sensitivity of a single GH test is poor, current NICE guidelines (2010) state that to make a diagnosis of isolated GH deficiency (IGHD), two stimulation tests need to show subnormal peak GH levels. In our centre we use insulin tolerance (ITT) or glucagon stimulation (GST) as the 1st test, and arginine stimulation (AST) as the 2nd test.The purpose of this study was to identify the proportion of children with discrepant test results; and to establis...

ea0027p17 | (1) | BSPED2011

GH stimulation tests before and after the introduction of a new GH assay; are we finding a similar proportion of abnormal results ?

Buck Jackie , Vrajananda Kishore , Herath Darsheka , Olafimihan Shola , Yasmeen Ghazala , Twomey Patrick

Introduction: We previously used an assay measuring GH levels in microgram per litre. Peak GH levels >20, 10–20 and <10 μ/l representing sufficiency, partial deficiency and deficiency of GH respectively. With a new assay introduced in 2008 peak GH levels >8, 4–8 and <4 μg/l were quoted as normal, partial deficiency and deficiency. Although the patient groups tested were different we would have expected to have approximately similar rates o...

ea0027p18 | (1) | BSPED2011

Novel KAL1 mutations associated with septo-optic dysplasia in three female patients

McCabe Mark , Gregory Louise , Hu Youli , Thankamony Ajay , Hughes Ieuan , Townshend Sharron , Bouloux Pierre-Marc , Dattani Mehul

Introduction: KAL1 is essential for GnRH neuronal migration and olfactory bulb development, and mutations within this gene have been implicated in 5% of Kallmann syndrome (KS) cases, a disorder characterized by the association of hypogonadotrophic hypogonadism with anosmia. It is the only identified X-linked form of the disorder and as a result only KS males had been screened for mutations until recently, when females exhibiting KS phenotypes were screened and subsequen...

ea0027p19 | (1) | BSPED2011

Mutations in the Sonic Hedgehog signalling pathway in patients with congenital hypopituitarism

Gregory Louise C , Webb Emma A , Panagiotakopoulos Leo , Dattani Mehul T

Introduction: The Gli-family of zinc-finger transcription factors regulates the Sonic Hedgehog (Shh) signalling pathway, critical for normal CNS development. Gli2 is essential for early pituitary and ventral forebrain development in mice, with mutations described in humans with holoprosencephaly (HPE), isolated hypopituitarism (HP) and cranial/midline facial defects. SHH mutations have been associated with phenotypes including HPE but not HP, despite murine studi...

ea0027p20 | (1) | BSPED2011

Diabetes insipidus, immunodeficiency and colitis in infancy

Balapatabendi Mihirani , Fisher Gemma , Browning M , Green M , Dattani M , Greening James , O'Riordan S M

Case history: We report 7 weeks old with central diabetes insipidus, holoprosencephaly (HPE), immunodeficiency and severe colitis. She was first admitted with severe diarrhoea and hypernatremia. A diagnosis of central diabetes insipidus (CDI) was made and she was commenced on subcutaneous desmopressin (DDAVP). Her initial hypothalamic–pituitary axis (HPA) was normal (ACTH 10 ng/l, cortisol 635 nmol/l, GH 23 μg/l and TSH 3.30 μ/l). However repeated cortisols and ...

ea0027p21 | (1) | BSPED2011

Lessons learnt from the management of atypical Cushing's disease

Nayak Suneela , Blair Joanne , Javadpour Mohsen , Mallucci Connor , Abernathy Laurence , Healey Andrew , MacFarlane Ian , Collingwood Catherine , Das Urmi , Didi Mohammed , Dharmaraj Poonam

Cushing’s disease (CD) is rare in childhood. There are well described cohorts of patients with classical features. However, given the rarity of CD, we feel it is valuable to share lessons learnt from the treatment of atypical cases.Case 1: Thirteen-year-old male presented with Cushingoid features. Investigation indicated ACTH excess: 0900 h ACTH 20 pmol/l per cortisol 798 nmol/l; midnight cortisol 724 nmol/l. MRI demonstrated a pituitary macroadenom...

ea0027p22 | (1) | BSPED2011

What does prolactin measurement add to the evaluation of pituitary hormone function?

Webb Emma , Lazze Pietro , Reddington Carly , Dattani Mehul

Background: Prolactin concentration is frequently measured as part pituitary function assessment, however there is little published data regarding result interpretation.Objective: To compare serum prolactin concentrations in children with isolated GH deficiency (IGHD), multiple pituitary hormone deficiency (MPHD) and septo-optic dysplasia (SOD).Methods: Patients were assigned to the appropriate study group based on the results of t...

ea0027p23 | (1) | BSPED2011

CHARGE syndrome: experience of a tertiary Endocrine Centre

Kumaran Anitha , Lazzeroni Pietro , Brain Caroline , Hussain Khalid , Kapoor Ritika R , Dattani Mehul

Introduction: CHARGE syndrome is a complex multisystem disorder with characteristic congenital malformations. The spectrum of endocrine abnormalities associated with CHARGE syndrome is not well defined. We report the experience of our tertiary endocrine centre in the management of these patients.Methods/study design: Patients with CHARGE syndrome were identified from the endocrine clinic database and information was gathered retrospectively from medical ...

ea0027p24 | (1) | BSPED2011

A case of familial isolated hypogonadotrophic hypogonadism due to FGFR1 G687R mutation

Tziaferi Vaitsa , Spoudeas Helen , McCabe Mark , Gregory Louise , Dattani Mehul T

Introduction: Hypogonadotrophic hypogonadism (HH) is a genetically heterogeneous disorder. A number of genes have been implicated in its pathogenesis but, to date, in most cases, the cause remains genetically unknown.Case: A 14-year old male with delayed puberty (G1P2A3, testes two males) and family history of HH was diagnosed with HH following anterior pituitary assessment and an overnight gonadotrophin profile. His baseline gonadotrophins were low (LH,...

ea0027p25 | (1) | BSPED2011

Limbic encephalitis: a novel presentation of Hashimoto's thyroiditis in children

Chatterjee Sumana , Makaya Tafadzwa , Sharma Ruchi , Davies Emily , Desurkar Archana , Dimitri Paul

Global encephalopathy is a rare complication of Hashimoto’s thyroiditis. It typically presents with seizures, ataxia and tremors and responds to steroid therapy. Limbic encephalitis (LE) is even less well described in paediatric population. It presents with medio-temporal lobe symptoms (memory impairment, temporal lobe seizures and disturbances of affect) caused by inflammation within the hippocampus, amygdala, hypothalamus, insular and cingulate cortex. LE most commonly ...

ea0027p26 | (1) | BSPED2011

Thyroid isotope scans: can it predict transient or permanent hypothyroidism in babies with borderline TSH values on screening test?

Ghule Shwetal , Biassoni Lorenzo , Langham Shirley , Peters Catherine

Introduction: Neonatal biochemical screening programmes for congenital hypothyroidism (CH) allow early diagnosis and treatment of infants with CH, thereby efficiently preventing mental retardation. The purpose of the study was to assess the predictive role of Tc-99m pertechnetate thyroid scintigraphy in differentiating between transient and permanent hypothyroidism in neonates with borderline TSH results (6–19.9 μ/l) at the screening.Methods: A...

ea0027p27 | (1) | BSPED2011

Referral of presumptive cases of congenital hypothyroidism from the newborn screening programme: plain sailing or a choppy ride?

Hall Kate , Cheetham Tim , Kirk Jeremy

Introduction: National Standards and Guidelines for referral of presumptive cases of congenital hypothyroidism (CHT) were developed in 2005 by the UK newborn bloodspot screening (NBS) programme centre (UKNSPC). The standards are being revised and NBS lab experience was explored as part of this process.Methods: A short questionnaire was circulated to all 16 UK NBS laboratories. The information requested included details of referral pattern in the event of...

ea0027p28 | (1) | BSPED2011

Prophylactic thyroidectomy in children with MEN2 in the United Kingdom

Prete Francesco Paolo , Morkane Clare , Watkinson J , Shaw N , Alvi S , Squire R , Harrison B , Wales J , Clayton P , Morrison P , Carson D , Brain C , Hindmarsh P , Dattani M , Spoudeas H , Buchanan C , Albanese A , Amin R , Piero A , Kurzawinski T

Introduction: Timing, extent, complications rate and long term results of paediatric prophylactic thyroidectomy (pPT) for MEN2 in the UK are unknown.Methods: All UK centers performing pPT were invited to participate in the study.Data were obtained from notes and hospitals electronic databases.Results: Fifty-one children (27 males) were included.All had genetic test at the mean age of 5 years (median 3, range 0.25–15), confirmi...

ea0027p29 | (1) | BSPED2011

Audit on initial management of congenital hypothyroidism

Cheney Sarah , Greening James , O'Riordan Stephen , Downing Melanie , Shenoy Savitha

Aim: To audit the current congenital hypothyroidism (CHT) management practice in our centre.Standards: Guidelines published by UK Newborn Screening Policy and Standards in 2005 and ESPE in 1999.Method: Retrospective audit from 2006 to 2010. The list was compared with the regional newborn screening lab to ensure data collection was complete.Results: Thirty cases were referred to the unit giving local incidence...

ea0027p30 | (1) | BSPED2011

Phenotypic variability of 17α-hydroxylase (CYP17A1) deficiency

Idkowiak Jan , Parajes-Castro Silvia , Shenoy Savitha , Dhir Vivek , Arun Chankramath , Arlt Felix , Malunowicz Ewa , Taylor Norman , Shackleton Cedric , T'sjoen Guy , Cheetham Tim , Arlt Wiebke , Krone Nils

The steroid 17α-hydroxylase enzyme CYP17A1 exerts two distinct activities that catalyze conversion reactions at key branch points in steroidogenesis. CYP17A1 17α-hydroxylase activity is the key step in cortisol synthesis whereas CYP17A1 17, 20 lyase activity generates sex steroid precursors. Inactivating CYP17A1 mutations result in CYP17A1 deficiency (17OHD), a rare form of congenital adrenal hyperplasia that classically presents with combined glucocorticoid and sex ...

ea0027p31 | (1) | BSPED2011

Oxidative stress in the pathogenesis of Triple A syndrome

Prasad Rathi , Clark Adrian , Storr Helen

Introduction: Triple A syndrome is a rare, autosomal recessive cause of adrenal failure that usually manifests in the first decade. Most cases have isolated glucocorticoid deficiency, but this is accompanied by mineralocorticoid deficiency in ~10%. Additional features include alacrima (~90%), achalasia of the oesophageal cardia (~75%), and a progressive neurodegenerative process (~60%). The AAAS gene product is the nuclear pore complex protein ALADIN of unknown function...

ea0027p32 | (1) | BSPED2011

Steroid dose, age and gender affect adrenal responses to a low dose short Synacthen test in children with asthma

Hawcutt Daniel , Jorgensen Andrea , Gardner Christopher , Peak Matthew , Couriel Jonathan , Lacy David , Newland Paul , Didi Mohamed , Pirmohamed Munir , Smith Rosalind , Blair Joanne

Background: The activity of the hypothalamic–pituitary–adrenal axis (HPA) during inhaled corticosteroid (ICS) treatment of asthma has been studied extensively. To date patient populations have been too small or homogeneous to identify relationships between steroid exposure, patient characteristics and HPA activity. In this abstract we report data from a large, heterogeneous cohort of patients recruited to observational and pharmacogenomic studies.<p class="abstex...

ea0027p33 | (1) | BSPED2011

Towards a non-invasive short Synacthen test

Elder Charlotte , Johnson Trevor , Loxley Martin , Wales Jerry , Wright Neil

Introduction: A 2009 BSPED survey revealed that 90% use a low dose Synacthen test (LDST) and 44% had noticed increased referrals of asthmatic children prescribed inhaled corticosteroids (ICS). Approximately 21% of UK children have asthma of whom 70% are prescribed ICS (10% at ‘high dose’). There is an increasing need for a simple, less invasive, alternative to the LDST to evaluate their adrenal function. We are developing a non-invasive LDST, with Synacthen administe...

ea0027p34 | (1) | BSPED2011

All Wales steroid card: the way forward

Tharian Kavitha , Fraser Carol , Pryce Rebekah

Introduction: Children on long-term steroid replacement for adrenal insufficiency may need emergency administration of i.m. hydrocortisone when unwell. There was a recent incident in Wales in terms of the out of hospital administration of hydrocortisone by ambulance crew. A child on long-term hydrocortisone for hypopituitarism became unwell at school. When the ambulance crew attended, it was brought to our attention that they cannot administer i.m. hydrocortisone unless the un...

ea0027p35 | (1) | BSPED2011

Extreme hyponatraemia with intact neurological outcome in a young child with Addison's disease

Smith John-Paul , Burren Christine , Cherinet Yonas

Introduction: Hyponatraemia presents a diagnostic challenge in acute medicine. Suggestive symptoms may be present or it can be an incidental finding. Whether it is acute or chronic, associated with excessive, normal or reduced intravascular volume all help determine cause and correct management.Case report: A six-year-old boy with a good neurological outcome from extreme hyponatraemia (initial sodium 96 mmol/l) caused by autoimmune hypoadrenalism. He pre...

ea0027p36 | (1) | BSPED2011

Recurrent hypoglycaemia with hyponatraemia during illness: what lies beneath?

Eames Tom , Puthi Vijith R

Hypoglycaemia is a one of the commonest presentation of an ill child. Hyponatraemia during illness is mostly presumed to be related to syndrome of inappropriate anti diuretic hormone secretion (SIADH). We would like to present an interesting case of hypoglycaemia and hyponatraemia.A four-year-old boy presented with a two-day history of intermittent fever, vacant episodes, and seizures. He was noted to be hypoglycaemic with laboratory glucose of 1.2 mmol/...

ea0027p37 | (1) | BSPED2011

Second primary tumours in young adult survivors of childhood posterior fossa brain tumours and prior therapeutic protocol

Spoudeas Helen A , Gopalakrishnamoorthy Mahalakshmi , Saunders Dawn , Smith Joalida , Mindell Sam

Background: SPT are late effects of childhood PFBT. Low dose radiation scatter at the edge of craniospinal field has traditionally been blamed for meningiomas and thyroid tumours but the effect of chemotherapy, genetic predisposition and GH replacement on their prevalence is less clear.Methods and aims: As part of a descriptive study of long term (>10 years) functional, endocrine and cognitive outcomes in 36 (20 males) adults aged 21.2 (16–32) y...

ea0027p38 | (1) | BSPED2011

Endocrine, cognitive and visual outcomes following treatment for Craniopharyngioma at a single institution: a prospective observational study

Ikazoboh Esieza Clare , Redington Carly , Kuczynski Adam , Thompson Dominic , Khadem Faraneh Vadgha , Spoudeas Helen

We prospectively assessed endocrine, cognitive and visual outcomes in eight (three males) craniopharyngioma (CP) patients aged 7.98 (range 2.45–14.15) years presenting to our centre over the last 18 months, according to initial risk-based surgical strategy. Four patients had incomplete debulking (GpA), and four had conservative cyst decompression surgery (GpB). One patient (GpB) recurred 8 months later and needed repeat cyst decompression surgery. Four patients (two from ...

ea0027p39 | (1) | BSPED2011

Treatment strategies and outcomes of paediatric Craniopharyngioma since 2005: a single centre experience

Upadrasta Swathi , Doss Arun , Mallucci Conor , Pizer Barry , Abernethy Laurence , Das Urmi , Dharmiaj Poonam , Didi Mohamed , Blair Jo

Background: The Craniopharyngioma service in our centre has changed since 2005 with a standardised preoperative assessment and a new approach to surgery and use of radiotherapy. We review the subsequent outcomes.Treatment strategy: Preoperative endocrinology: prior to dexamethasone therapy: standard dose short synacthen test (SST), thyroid function test (TFT), IGF1, LH, FSH, testosterone/oestradiol±GH stimulation test. Staging: MRI and tumour stagin...

ea0027p40 | (1) | BSPED2011

Gonadal failure in children with acute lymphoblastic leukaemia treated by bone marrow transplantation: prevalence and risk factors

Burrani Huda , Shaikh M Guftar , Ewins Anna Maria , Gibson Brenda , Donaldson Malcolm

Background: Gonadal failure is a well-recognized long-term complication of bone marrow transplantation (BMT) in children with acute lymphoblastic leukemia (ALL). Identifying key risk factors is helpful in planning and counselling for hormone replacement therapy (HRT) and in targeting future research.Objectives: To determine the prevalence and risk factors for primary gonadal failure (PGF) in childhood ALL treated with BMT in a single centre.<p class=...

ea0027p41 | (1) | BSPED2011

Vitamin D deficiency in young survivors of childhood cancer

Wei Christina , Cox Rachel , Bradley Karin , Elson Ruth , Burren Christine , Stevens Michael , Crowne Elizabeth

Introduction: Childhood cancer survivors (CCS) are at risk of vitamin D (VitD) deficiency because of chronic ill health and advice to limit sunlight exposure. Studies have demonstrated associations between VitD deficiency and cardiovascular disease. Some CCS has increased risk of cardiovascular morbidity, but data on VitD status are limited.Aim: To evaluate VitD status in CCS.Method: We compared VitD levels in CCS (n=83 (M=4...

ea0027p42 | (1) | BSPED2011

Bone density in children with acute lymphoblastic leukaemia at a regional centre and comparison to children at risk of low bone density

Cockle Julia Veronica , Shaw Anita , Mushtaq Talat

Introduction: Improved survival in childhood acute lymphoblastic leukaemia (ALL) has highlighted the importance of recognising and preventing skeletal morbidity. This study aims to assess bone health of ALL patients and compare this to other paediatric patients with chronic illness.Methods: Dual energy absorptiometry (DXA) scan results for total body bone mineral density (TBBMD), lumbar spine bone mineral apparent density (LSBMAD) and total body less hea...

ea0027p43 | (1) | BSPED2011

Chemotherapy treatment for medulloblastoma is associated with increased risk of impaired gonadal function

Bischof-Renner Andrea , Su Zhe , Edgar Angela B , Mitchell Rod T , Wallace W H , Bath Louise E

Introduction: Effects on fertility have been seen as important late effects of treatment for childhood cancer.Aim: To evaluate the impact of chemotherapy and radiotherapy treatment for childhood medulloblastoma on gonadal function.Methods: Retrospective cohort study of all children treated for medulloblastoma (diagnosed from 2–18 years) in a single institution in the UK between 1983–2011 and a minimum relapse-free surviva...

ea0027p44 | (1) | BSPED2011

The use of continuous s.c. insulin infusion therapy to optimize glycaemic control in children with type 1 diabetes mellitus

Carroll Aoife , Devenney Dympna , Corcoran Fiona , Shaughnessy Norma , Hayden Yvonne , Murphy Nuala

Aim: To investigate the glycaemic control of patients with T1DM before and after the introduction of CSII therapy.Methods: All patients with T1DM receiving CSII therapy for more than 6 months attending the Children’s University Hospital from 2005–2011 were included. Glycosylated haemoglobin (HbA1c) was recorded 12 and 6 months prior to starting therapy, at the time of CSII initiation and annually thereafter. Adverse events and BMI were also rec...

ea0027p45 | (1) | BSPED2011

Uptake of BSPED revised guidelines for paediatric DKA management in Scotland

Livingstone Emma , Ardill Rosalyn

Introduction: Diabetic ketoacidosis remains the leading cause of morbidity and mortality in children with type 1 diabetes. BSPED guidelines for management of paediatric DKA were revised in 2009.Methods: We performed a telephone questionnaire of all 13 centres in Scotland who provide inpatient paediatric (<16 years) care, and reviewed their DKA guidelines. These were audited against the 2009 BSPED guidelines. Criteria studied were; method of ketone me...

ea0027p46 | (1) | BSPED2011

The use of glucose meter downloads in monitoring childhood diabetes mellitus

Holloway Edward , Mazzola Francesca , Hulse Tony

Aims: The use of glucose meter downloads provides statistics (mean blood glucose level, S.D.) which may have a role in outpatient Diabetes monitoring. We aimed to compare these measures with the current gold standard, HbA1c.Methods: Thirty-eight patients had blood glucose readings downloaded from their monitoring device (Accuchek) at clinic visits over 25 months. Statistical analysis from the Accuchek Software package was per...

ea0027p47 | (1) | BSPED2011

Audit of paediatric patients with IDDM on CSII (pump) therapy in a District General Hospital

Tharian Kavitha , Phillips Geraldine , Fraser Carol , Pryce Rebekah

Introduction: Continuous subcutaneous insulin infusion (CSII) or ‘pump’, therapy is used for intensification of insulin therapy. NICE guideline 2008 recommends CSII as an option for adults / children 12 years or older with insulin dependent diabetes mellitus (IDDM), when multiple daily injection (MDI) insulin therapy results in disabling hypoglycaemia/fails to reduce HbA1c levels below 8.5%, and for children below 12 years whenever MDI is impractical or inappropriate...

ea0027p48 | (1) | BSPED2011

The lived experiences of children and parents using continuous s.c. insulin infusion or insulin pump

Devenney Dympna , Dowdall Grainne , Glynn Grainne

Background: Type 1 diabetes mellitus is increasing in children (ISPAD 2009). Tight metabolic control using intensive insulin therapy aims to reduce short and long term complications. Continuous subcutaneous insulin infusions (CSII or pump therapy) as a method of insulin delivery has resulted in improved glycaemic control (Danne & Tambourlane (2006) and Onwuneme & Devenney (2009). However there is little evidence of the impact of pumps on the lived experience of childre...

ea0027p49 | (1) | BSPED2011

Frequency of blood glucose testing correlates poorly with HbA1c values in children with type 1 diabetes mellitus

Holloway Edward , Mazzola Francesca , Hulse Tony

Aims: The use of glucose meter downloads in outpatients enables clinicians to monitor how frequently children with type 1 diabetes mellitus are testing their blood glucose level on a daily basis. We tested the hypothesis that increased frequency of blood glucose testing improves HbA1c value, the current gold standard in monitoring diabetic control.Methods: Thirty-eight patients had their glucose meter (Accuchek) downloaded at outpatient clinic vis...

ea0027p50 | (1) | BSPED2011

Using self-monitoring of blood glucose to improve understanding and self-management of diabetes in children and young people with type 1 diabetes in a routine clinical setting

Holland Philip , Harron Katie , Campbell Fiona , Parslow Roger , Yong James

Introduction: The strong correlation between HbA1c and blood glucose (BG) has been recognised in many studies. We investigated this relationship using BG data from 119 children with diabetes, to better understand factors affecting HbA1c and characteristics of children with good versus poor control.Methods: BG data was obtained on 119 children over a 1-month period and on a subset of 43 children over three consecutive months using the Diasend System (Aide...

ea0027p51 | (1) | BSPED2011

Continuing variation in DKA guidelines despite national guidelines

Messazos Betty , Payne Susan , Ackland Frances , McAuley Antoinette , Hind Ed , Burren Christine , Edge Julie

Since the introduction of national BSPED DKA guidelines we wondered whether the previous variability in DKA guidelines would be abolished.Aim: To explore the variability of guidelines in three regional diabetes networks in South West (SW) and South Central England and to compare them to the current BSPED guidelines.Methods: Within an audit of in-patient care, a copy of the DKA guidelines was requested from 27 services. General layo...

ea0027p52 | (1) | BSPED2011

Educating children in continuous subcutaneous insulin infusion (CSII) therapy; are we improving diabetes control?

Lee Alice , Campbell Judith , Marshall Marie , Ainsworth Sue , Salisbury Louise , Bone Mark , Doughty Ian , Ehtisham Sarah

Background: Continuous subcutaneous insulin infusion (CSII) is proving superior in reducing HbA1c compared to multiple daily injections (MDI) in both the adult and paediatric populations. This study aims to compare the two methods, and evaluate the importance of education when starting insulin pump therapy in children.Design: Patients who attended a ‘pump school’ provided by the Royal Manchester Children’s Hospital between January 2010 and...

ea0027p53 | (1) | BSPED2011

An unusual case of type 1 diabetes mellitus and autoimmune limbic encephalitis

Tziaferi Vaitsa , Ng Joanne , Peters Catherine J , Carr Lucinda

Introduction: T1DM is an autoimmune condition. At diagnosis, 80% of patients have positive glutamic-acid decarboxylase antibodies (GADA). We report a case of T1DM diagnosed 1 year after the onset of autoimmune limbic encephalitis (LE).Case: A 13-year-old female was diagnosed with voltage-gated-potassium channel (VGKC) positive LE after presenting with complex partial seizures and auditory hallucinations. A year later and prior to the diagnosis of diabete...

ea0027p54 | (1) | BSPED2011

Confounding factors and variations in HbA1c collection methods have not shown different HbA1c results as compared to the National Paediatric Diabetes Audit Results

Reed Thomas , van Meijgaarden Birgit E

The National Diabetes Paediatric Audit Report (NDPAR) 2009–10 was published earlier this year. A total of 155 units submitted data to the report, representing an overall increase of 31 units since the 2008–9 audit. Whilst non-participation has been largely attributed to lack of resources and technical infrastructure, there are some concerns over the method of data collection and interpretation.Our unit entered the data by using the automatic ex...

ea0027p55 | (1) | BSPED2011

A case of non ketotic hyperglycaemic hyperosmolar coma in a child precipitated by pancreatitis

Balapatabendi Mihirani , Ho Chui , O'Riordan S M , Greening James

Introduction: Non-ketotic hyperglycaemic hyperosmolar (HHNK) coma is rare in children, is associated with high mortality rate. The incidence of this condition is reported to be increasing and considered to be related to increased prevalence in obesity and type 2 diabetes in children. Hyperglycaemic hyperosmolar syndrome (HHS) is rare in children. The pathophysiology and management of HHS is a distinct entity from diabetic ketoacidosis (DKA).Case report: ...

ea0027p56 | (1) | BSPED2011

Pigmented hypertrichosis and insulin dependent diabetes mellitus (PHID) syndrome is associated with chronic inflammation and involves the NF-kB response pathway of inflammation

James Chela , Eaton Simon , Brogan Paul , Hussain Khalid

Background: Pigmented hypertrichotic dermatosis with insulin-dependent diabetes (PHID) syndrome is an autosomal recessive disorder due mutations in SLC29A3. SLC29A3 encodes for an equilibrative nucleoside transporter 3 (ENT 3). A hallmark of PHID syndrome is the chronic inflammation characterised by the persistently raised erythrocyte sedimentation rate and C-reactive protein. A key pathway involved in triggering inflammation is the nuclear factor kappa β (N...

ea0027p57 | (1) | BSPED2011

Quality of life in children with type 1 diabetes in Kuwait

Abdul-Rasoul Majedah , Alotaibi Fatemah , AlMahdi Marya , AlKandari Hessah

Introduction: Recent research has shown that health-related quality of life (HRQOL) in children and adolescents with type 1 diabetes is markedly affected, resembling that of children with other chronic diseases, like malignancies. The objective of the study was to investigate the HRQOL in children and adolescents with diabetes in Kuwait.Method: A total of 341 children and adolescents aged 5–18 years and 408 parents of children aged 2–18 years p...

ea0027p58 | (1) | BSPED2011

Effect of diagnosing coeliac disease and instituting a gluten-free-diet on glycaemic control in asymptomatic children with type 1 diabetes mellitus

Sherif Marwan A A , Allison Gavin , Robertson Kenneth , Donaldson Malcolm D C

Background: Coeliac disease (CD) is common in children with type 1 diabetes mellitus, so that CD screening of all asymptomatic diabetic children is carried out in many medical centres. While introduction of a gluten-free diet (GFD) might improve glycaemic control, the burden of two dietary regimes could adversely affect compliance.Aim: To assess the short-term effect of the diagnosis and treatment of asymptomatic CD detected by screening on diabetic cont...

ea0027p59 | (1) | BSPED2011

Permanent neonatal diabetes mellitus due to a homozygous R397L (Glucokinase) mutation managed with CSII therapy

Senniappan Senthil , Flanagan Sarah , Hindmarsh Peter , Ellard Sian , Russell-Taylor Michelle , Peters Catherine

Introduction: Neonatal diabetes mellitus is a rare condition with an estimated incidence of 1 in 400 000 live births in the UK population. Half of these cases will have permanent neonatal diabetes mellitus (PNDM). We report a homozygous missense mutation (R397L) in the glucokinase (GCK) gene which is associated with PNDM, in an infant from a consanguineous Asian family.Case report: The baby was born with a birth weight of 1.68 kg at 38 weeks gesta...

ea0027p60 | (1) | BSPED2011

Reducing the risk of serious infections for children with diabetes mellitus: an audit of immunisation practice

Chong Jiehan , Bailey Shivani , Kent Alison , Buck Jackie

Introduction: Patients with diabetes mellitus are known to have increased mortality and morbidity from influenza and pneumococcal disease. The Department of Health recommends that these children, along with other high risk patients, receive yearly influenza vaccination and additional immunisations against invasive pneumococcal disease. We audited the uptake of these additional immunisations in our patients.Method: Retrospective audit of all patients with...

ea0027p61 | (1) | BSPED2011

Young people have a limited knowledge about diabetes research

Chester Paul , Greene Alex , Lowes Lesley , Kennedy Eleanor , Matthews David

Individuals considering research participation are provided with information but this is usually at the end of the process of engagement. Getting young people interested in research can be difficult, even more so when competing against a demanding school and social life that many young people lead. Working with a group of young people we produced a pilot website containing video and text material about diabetes and research that was designed to be appealing and informative.</p...

ea0027p62 | (1) | BSPED2011

Care of newly diagnosed children with diabetes: survey of general practitioners

Choudhary Deepak , Agwu Juliana Chizo

In the UK, over 95% of children age 0–16 years presenting with diabetes have type 1 diabetes. Up to 25% of these present with DKA. Many present initially to GPs and it is important that children with symptoms of diabetes are referred urgently to Paediatric Diabetes Team.Aim: We carried out a survey of the current practise of GP’s when they suspect DM in a young person. The aim was to investigate whether they recognised the need for urgent refer...

ea0027p63 | (1) | BSPED2011

Audit of structured educational programme for carbohydrate counting for children with type 1 diabetes

Balapatabendi Mihirani , Grilli K , Greening James , O'Riordan S M

Introduction: The paediatric diabetes team in Leicester identified an unmet need for educating children about carbohydrate counting, following the initiation of most diagnosed patients on multiple dose insulin therapy (MDI). The team therefore started a new structured group education programme (SGEP) for children with type 1 diabetes (T1DM) called flexible adjustment of basal bolus (FABB) that has run since January 2007.Aims: To determine the effectivene...

ea0027p64 | (1) | BSPED2011

Internet-based information resources for young patients and families with diabetes mellitus: a user preference survey

Hopkins Sarah , Pesterfield Claire , Acerini Carlo

Background: Internet-based education and information resources for young people and families with DM have increased, yet the extent of use and perceived value among this patient group is uncertain. We conducted a questionnaire-based survey of parents’ and carers’ experience of currently available DM internet-based resources.Objective: To assess i) level of internet use, ii) perceived quality of patient support information currently available, i...

ea0027p65 | (1) | BSPED2011

Assessment of standards of care in children's diabetes services across Yorkshire and Humber SHA

Holland Philip , Harron Katie , Campbell Fiona , Parslow Roger

Background: A children’s diabetes network was established in late 2008 across the Y&H SHA. Following agreement from all units over 2009/10 it identified outcome measures and established policies leading to 2011 being a ‘Year of Action’ to produce significant improvement in services.Methods: All units were required to submit annually to the NDA and to complete an extended version of the 2008 Diabetes UK questionnaire on staffing. Data f...

ea0027p66 | (1) | BSPED2011

Audit on psychology/psychotherapy support in children with diabetes

Shah Pratik , Hoyle Andrew , Arun Sara , Lipscomb Anthony

Introduction: In the United Kingdom, the prevalence of type 1 diabetes in the under-15s is rising fast, an increase of 80% is expected by 2020 and even higher, 125%, in the under five age group. The National Service Framework Standard recommends that all children/young adults with diabetes should receive consistently high quality care and they, with their families, be supported to optimise the control of their blood glucose and all aspects of their subsequent development.<...

ea0027p67 | (1) | BSPED2011

Clinic appointment reminders and their effect on ‘did not attend' (DNA) rates and HbA1C, in a paediatric diabetes clinic

Sachdev Pooja , Gunn Elaine , Harron Katie , Natarajan Anuja

Background: Non-attendance in outpatient clinics results in administrative problems, economic loss and poor patient care. Mobile phone intervention has been shown to be effective in improving attendance rates in chronic disease follow up. A pilot study conducted over 9 months in our diabetes clinic showed improved attendance following phone calls and text messages sent to carers/young people prior to their clinic appointment (statistical significance reached when patient spoke...

ea0027p68 | (1) | BSPED2011

Survey of management of diabetes in schools

Saraff Vrinda , McCrea Kathryn

Introduction: Type 1 diabetes mellitus is the third commonest chronic condition of childhood and unfortunately UK has one of the lowest percentages of children attaining good diabetes control in Europe. Department of Health has outlined recommendations to improve management of diabetes in schools and provide children with the necessary support required to achieve their maximum potential.Objective: To evaluate the provisions available in Shropshire and Po...

ea0027p69 | (1) | BSPED2011

Experiences and attitudes towards clinics among pre-transitional and transitional adolescents with type 1 diabetes, a clinical attitudes survey

Hughes Anna Gerrard , Cooper Chris

Introduction: Adolescents with type 1 diabetes often have poor control causing them significant future danger. An area of particular concern is that of worsening control around the complex time of transition to young adult services from paediatric services. Multiple guidelines and methods to help better this control and transition process are in place.Aim: This study aims to survey attitudes towards and possible improvements to clinics to aid adherence a...

ea0027p70 | (1) | BSPED2011

Evaluation of the Lothian Diabetes Service for adolescents with type I diabetes mellitus

McManus Kirsty , Affleck Gillian , Bath Louise

Introduction: We evaluated the Lothian Adolescent Diabetes Service (LADS) to assess the service at the introduction of a clinical psychologist, to help guide service redevelopment and evaluate areas where psychological support would be most beneficial.Methods: Over 13 weeks, all adolescents with type 1 diabetes mellitus attending LADS clinics were invited to complete a questionnaire about their clinic experience and support with diabetes management. Cons...

ea0027p71 | (1) | BSPED2011

Type 2 diabetes in young adults in East London: an alarming increase

Balasanthiran Anjali , Stacey Mike J , O'Shea Teresa , Moodambail Abdul , Vijayaraghavan Shanti

Aims: Type 2 diabetes (T2DM) now affects a significant proportion of young people worldwide. ‘X-borough’ contains a strikingly young, diverse population with one of the highest rates of prevalence for adult T2DM in the UK. Our aims were to determine the prevalence and examine the characteristics of young people with T2DM in this population.Methods: Forty-four young people (<25 years) with T2DM were matched with an equal number of young peop...

ea0027p72 | (1) | BSPED2011

Which test to use for screening glucose intolerance in overweight/obese children?

O'Riordan Stephen , Greening James , Shenoy Savitha

Background: With the increasing prevalence of obesity and related morbidity including glucose intolerance in childhood, there remains a dispute about the best screening test to identify this early. The aim of our study was to determine the prevalence of impaired glucose tolerance (IGT)/type 2 diabetes mellitus (T2DM) in a multiethnic cohort of 100 overweight/obese children and adolescents in our clinic and compare the results of the screening tests.Study...

ea0027p73 | (1) | BSPED2011

Syndromic obesity

Mavinkurve Meenal , Murphy Anne-Marie , Isamotu Rafiu , Lynch Sallyann , Ahmed Hadar , Roche Edna

Aims: Childhood obesity is reaching epidemic proportions. Obesity may be primary (obesogenic environment), secondary (hormonal imbalance, drugs), monogenic (POMC) or be part of a complex phenotype-genetic obesity syndromes. It is important to distinguish between classifications. Our aim was to review our cohort of ‘obese’ patients with this in mind.Methods: Patients referred to our Paediatric Endocrinology Service specifically for management of...

ea0027p74 | (1) | BSPED2011

Age at onset of inappropriate weight gain in Prader--Willi syndrome; an opportunity for obesity prevention

Abouof Noran , Shaikh M Guftar , Donaldson Malcolm

Background: Prader-Willi syndrome (PWS) results from loss of paternally imprinted gene(s) from the 15q 11-13 region and is characterised by weight faltering during early childhood due to hypotonia, followed by obesity due to onset of the hyperphagic phase.Aim of study: To determine the presence of an age zone during which excessive weight gain is particularly likely, in order to target counselling and dietary input.Method: Body mas...

ea0027p75 | (1) | BSPED2011

Orlistat prescribing in children in Scotland

Sun A P C , Kirby B , Helms P J , Black C , Simpson C R , McLay J S

Introduction: Most paediatric medicines have not undergone extensive clinical trials in children and as a necessity are frequently prescribed off-label, a practice which is recognised to be associated with an increased risk of adverse drug reactions (ADRs).Aims: To assess the use of routinely acquired healthcare data to identify medication utilisation and specifically drug discontinuation, as a signal for possible ADR occurrence in children: using orlist...

ea0027p76 | (1) | BSPED2011

Impact of community based weight management programmes on hospital based dietetic activity

McGowan C , Morrison J M , Shaikh M G

The management of childhood obesity has evolved from hospital led treatment to community-based programmes. This is an audit reviewing the impact of the active children eating smart (ACES) programme for overweight/obese children on the dietetic department in the Royal Hospital for Sick Children; Glasgow. A retrospective audit was carried out of referrals to the dietetic department. Clinic lists for dietetic appointments in 2008 and 2010 were identified and reviewed. In 2008 and...

ea0027p77 | (1) | BSPED2011

Octreotide treatment for congenital hyperinsulinism can cause hepatitis

Avatapalle Bindu , Rigby Lindsey , Patel Leena , Ehtisham Sarah , Skae Mars , Padidela Raja , Banerjee Indraneel , Clayton Peter

Introduction: Congenital hyperinsulinism (CHI) is a rare condition of dysregulated insulin secretion causing hypoglycaemia. Oral Diazoxide is used as first line therapy for CHI. In those who are Diazoxide unresponsive, subcutaneous Octreotide is used as second line treatment. Octreotide has recognised side effects of biliary stasis. Additionally, we report hepatitis as a complication of Octreotide therapy in a child with CHI.Case report: A neonate with C...

ea0027p78 | (1) | BSPED2011

Audit of Endocrine Adolescent Transition Clinic, RHSC Glasgow, 2008–2010

Mason Avril , Ahmed S F , Donaldson M D , McNeill E , Campbell V , Perry C , Shaikh M G

Introduction: A multi-disciplinary endocrine Adolescent Transition Clinic (ATC), with key professionals from paediatric and adult services, was instituted at the Royal Hospital for Sick Children, Glasgow, in October 2008 serving young people in the West of Scotland. A good transition should improve clinic attendance, health outcomes and quality of life into adulthood.Aim: To systematically review the success of ATC in engaging young people following thei...

ea0027p79 | (1) | BSPED2011

Clinical characterisation of hyperinsulinaemic hypoglycaemia associated with intra-uterine growth restriction

Kapoor Ritika , Flanagan Sarah , Kumaran Anitha , Shield Julian , Ellard Sian , Hussain Khalid

Background: Intra-uterine growth restriction (IUGR) is a known risk factor for the development of hyperinsulinaemic hypoglycaemia (HH). The phenotype of a large cohort of neonates who develop HH following IUGR has not been studied previously.Aim: To characterise the clinical aspects of a cohort of neonates with IUGR who developed HH.Methodology: Thirty-nine patients with IUGR (defined as birth weight <10th centile) who presente...

ea0027p80 | (1) | BSPED2011

Congenital hyperinsulinism: marked clinical heterogeneity in siblings with identical mutations in the ABCC8 gene

Kapoor Ritika , Flanagan Sarah , Ellard Sian , Hussain Khalid

Congenital hyperinsulinism (CHI) is a clinically and genetically heterogeneous disease. The clinical heterogeneity may range from mild subtle hypoglycaemia to severe life threatening hypoglycaemia. The commonest genetic cause of congenital hyperinsulinism are mutations in the genes ABCC8 and KCNJ11 encoding the two subunits (SUR1 and Kir6.2 respectively) of the pancreatic β-cell KATP channel. In the Ashkenazi Jewish population two founder mutation...

ea0027p81 | (1) | BSPED2011

An audit of diazoxide prescriptions in children with congenital hyperinsulinism: preliminary recommendations

Dimitriu Alma Iulia , Avatapalle Bindu , Rigby Lindsey , Banerjee Indraneel , Patel Leena

Introduction: Congenital hyperinsulinism (CHI) is characterised by abnormally regulated and excessive insulin secretion by pancreatic β cells. First line management includes an oral suspension of Diazoxide but a standardised formulation is not universally employed. Anecdotal evidence suggests that different formulations can alter the management of glucose levels. Lack of glucose control can lead to permanent brain damage and adversely affect neuro development.<p class...

ea0027p82 | (1) | BSPED2011

(Pseudo)hyperkalaemia caused by stomatin deficient cryohydrocytosis due to GLUT1 deficiency

Gevers Evelien , Jacobs Benjamin , Flatt Joanne , Bruce Lesley , Grunewald Stephanie , Dattani Mehul , Stewart Gordon

Hereditary stomatocytoses, including cryohydrocytosis, are anaemias in which the erythrocyte membrane has increased permeability resulting in electrolyte leakage and thus haemolysis. Many forms and underlying molecular mechanisms exist. GLUT1 is present in the blood–brain barrier and erythrocytes, but GLUT1-deficiency does not usually affect erythrocytes. We describe a child with a stomatocytosis due to a SLC2A1 mutation presenting with hyperkalaemia, liver disease...

ea0027p83 | (1) | BSPED2011

Galactokinase deficiency in a patient with congenital hyperinsulinism: the cautionary tale of using bedside blood glucose monitors

Bayarchimeg Mashbat , Ismail Dunia , Lam Amanda , Burk Derek , Kirk Jeremy , Hogler Wolfgang , Flanaghan Sarah , Ellard Sian , Hussain Khalid

Background: Galactokinase catalyses the first committed step in galactose metabolism, the conversion of galactose to galactose-1-phosphate. Galactokinase deficiency is an extremely rare form of galactosaemia and the most frequent complication reported is cataracts. Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia in the newborn period.Aims: To report the diagnostic pitfalls with bedside blood glucose testing in a neonate with combined ...

ea0027p84 | (1) | BSPED2011

Mevalonic aciduria in a pedigree with presumed GH-insensitivity

Gevers Evelien , Kelberman Daniel , Aylwin Simon , Buchanon Charles , Waterham Hans , Dattani Mehul

Mutations in GHR, STAT5B and IGF1 lead to GH-insensitivity but often the cause of reduced GH-sensitivity remains unknown. We describe the identification of a mutation in the MVK gene encoding mevalonate kinase (MK) in a pedigree investigated for STAT5B-deficiency.A 15-year-old male born to consanguineous parents was referred for short stature (height 125.8 cm; −5.6 SDS) and arthritis. He presented, aged 2 years, with fev...