Searchable abstracts of presentations at key conferences in endocrinology
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36th meeting of the British Society for Paediatric Endocrinology and Diabetes

ea0017p1 | (1) | BSPED2008

Comparisons of patients with septo optic dysplasia, multiple pituitary hormone deficiency and isolated GH deficiency

Stone E , Kirk J , Mcpherson L

Introduction: Septo optic dysplasia is a triad of conditions, which include MPHD, IGHD and ONH. We have analysed data in our regional cohort primarily focusing on MRI brain scans.Patients and methods: MRI scans of the brain including T1/T2 weighted high resolution images in children with a diagnosis of septo optic dysplasia (SOD (N=38)), multiple pituitary hormone deficiency (MPHD (N=19)) and isolated GH deficiency (IGHD (n=14)) (tot...

ea0017p2 | (1) | BSPED2008

Optic nerve hypoplasia in patients with septo optic dysplasia (SOD) and isolated optic nerve hypoplasia (ONH)

Stone E , Kirk J , Willshaw H , Goode P

Introduction: Optic nerve hypoplasia (ONH) can be bilateral or unilateral. It may be found either as an isolated finding or as part of other conditions such as septo-optic dysplasia (SOD), a variable triad of ONH, midline brain defects, and hypopituitarism. We have analysed data on patients with ONH within our regional cohort.Patients and methods: Ophthalmology and endocrinology case records from 136 patients with SOD (56) or ONH (79) were analysed. ONH ...

ea0017p3 | (1) | BSPED2008

Novel Cullin 7 mutations in 3-M syndrome and exclusion of Fbxw8 mutations in non-CUL7 3M syndrome

Sud A , Murray P , Hanson D , Khan W , Chandler K , Whatmore A , Black G , Clayton P

3-M syndrome is an autosomal recessive disorder characterised by severe pre- and post-natal growth failure, a characteristic facial appearance (triangular shaped face, fleshy tipped nose) and radiological features (slender long bones and tall vertebrae). 3-M syndrome is known to be caused by mutations throughout the Cullin 7 gene, identified in a range of ethnic groups including Brazilian, European, Moroccan, Yakutskian and Indian.We have now identified ...

ea0017p4 | (1) | BSPED2008

Effect of the orexin-A on the reproductive axis and on pubertal development

Behzadfar Maryam , Khazali Homayoun

Orexin-A are newly described family of orexigenic hypothalamic neuropeptides. The distribution of orexin immunoreactive fibers overlaps with the LHRH neuronal system in the septo-preoptic area and the arcuate nucleus-median eminence region. However, the actual role of the orexinergic system in the timing of puberty onset remains unexplored. The aim of the present study was to assess, in immature female and male rats, the effect of the orexinergic system on the reproductive axi...

ea0017p5 | (1) | BSPED2008

Mutations in TBCE are associated with hypoplasia of the anterior pituitary and corpus callosum in children with hypoparathyroidism-retardation-dysmorphism syndrome

Padidela R , Kelberman D , Hindmarsh P , Dattani M

Introduction: Hypoparathyroidism-retardation-dysmorphism syndrome (HRD) is an autosomal recessive disorder characterized by distinct clinical, biochemical, and genetic abnormalities. HRD has almost exclusively been reported in children of Middle Eastern origin where the rate of consanguinity is high. The syndrome is characterized by severe short stature, the aetiology of which is unclear. Mutations in tubulin-specific chaperone E (TBCE), a gene encoding a chaperone requ...

ea0017p6 | (1) | BSPED2008

Suboptimal linear growth despite entry into puberty in children with inflammatory bowel disease

Wong SC , Mason A , Russell RK , McGrogan P , Ahmed SF

Background: Growth retardation and pubertal delay is frequently encountered in children with inflammatory bowel disease (IBD). There are currently no published data on sitting height (SH), subischial leg length (SILL)and growth rates in relation to pubertal status in these children.Objective: To assess skeletal disproportion and growth rates in children with IBD.Methods: Retrospective study of 40 children (32M):35 Crohn’s dise...

ea0017p7 | (1) | BSPED2008

Growth monitoring following traumatic brain injury

Moon R , Wilson P , Kirkham F , Davies JH

Background: Hypopituitarism is an important sequela of traumatic brain injury (TBI) in adults. In paediatric practice, however, there are concerns that it may be under-recognised. Symptoms may be mistaken for post-concussion syndrome, which may result in delayed investigation and diagnosis. Furthermore, predictors of post-traumatic hypopituitarism (PTHP) in children have not been consistently identified. As normal pituitary function is required for growth, serial growth monito...

ea0017p8 | (1) | BSPED2008

Lack of short-term catch up growth in children with Crohn's disease treated with infliximab

Wong SC , Malik S , Russell RK , McGrogan P , Ahmed SF

Background: Recent studies show that infliximab (IFX), an antibody against tumour necrosis factorα (TNFα), may improve growth in children with Crohn’s disease (CD). These studies have not adequately addressed the concomitant factors such as medication, nutrition and puberty that may also improve growth.Methods: Retrospective study of 22 children (13M) with CD, median age at start of IFX 13.2 years (7.4, 16.1) with auxology at 6 months befo...

ea0017p9 | (1) | BSPED2008

Opportunistic growth measurement in children attending hospital is undertaken infrequently

Lek N , Hughes IA

Background: The UK has advocated a policy of screening children’s growth opportunistically. Such a policy has merit if measurements are performed and the data easily retrieved to enable a possible referral for specialist assessment.Height measuredWeight measured N...

ea0017p10 | (1) | BSPED2008

Genotropin (recombinant GH) for the treatment of growth failure in children: a systematic review of randomised controlled trials

Heatley R , Townsend R , Loftus J

Background: The National Institute for Health and Clinical Excellence (NICE) previously conducted a Technology Appraisal for Genotropin in children and positive guidance was issued in 2002. This guidance is currently under review.Aim: To perform a systematic review (SR) to identify studies investigating the efficacy and safety of Genotropin published since the previous NICE appraisal for the existing indications (GH deficiency (GHD), Prader-Willi syndrom...

ea0017p11 | (1) | BSPED2008

GH treatment and quality of life: the practicalities of running a multi-centre research study

Wales G , Bailey L , Eiser C , Wright N , Butler G

Background: The National Institute for Clinical Excellence (NICE, 2002) suggests that measurement of quality of life (QOL) is necessary to assess the efficacy of GH treatment (GHT). A pilot study (Sheppard 2006) showed a greater improvement in QOL over the first 6 months of GHT for patients with acquired GH deficiency (AGHD) compared with idiopathic GH deficiency (IGHD).Method: In view of this, a longitudinal research study was set up to measure changes ...

ea0017p12 | (1) | BSPED2008

Turner Syndrome in young adults: where are they now?

Myers A , McHugh J , McCrann A , Croasdell N , Roche E , Hoey H

Turner Syndrome is a chromosomal disorder, which affects approximately 1 in 2500 live female births. It is associated with significant morbidity throughout childhood, adolescence and into adulthood. Quality of life is reduced in a significant number of females with Turner Syndrome due to lack of focused health care particularly during the transition from paediatric to adult services. The purpose of this study was to assess the health status and well being of a cohort of young ...

ea0017p13 | (1) | BSPED2008

Short-term height gain in boys with constitutional delay of growth and puberty treated with testosterone esters or enantate

Gardner C , Kumar P , Banerjee I , Didi M , Blair J

In boys with constitutional delay of growth and puberty (CDGP), puberty may be induced with a short course of testosterone, either as esters or enantate injections. While both types of testosterone are known to be effective in inducing puberty, there are no studies comparing their efficacies. We have compared height gain, a quantitative marker of puberty, between boys treated with a short course of testosterone esters and enantate injections in a retrospective, observational s...

ea0017p14 | (1) | BSPED2008

Growth and pubertal status following pubertal induction in boys with IBD

Mason A , Wong S , Russell R , McGrogan P , Ahmed S

Background: Children with inflammatory bowel disease (IBD) may suffer from growth and pubertal delay.Objective: To assess pubertal status and growth in a group of boys with IBD before (T+0) and 6 months after (T+6) initiation of testosterone therapy.Methods: Retrospective study of boys with IBD undergoing pubertal induction. Height (Ht) and pubertal status were obtained at T+0 and T+6. Markers of disease activity and data on concom...

ea0017p15 | (1) | BSPED2008

BSPED audit of patient choice in GH therapy

Kirk J , Langham S

There is now evidence that patient choice in GH device not only improves adherence with GH therapy, but in addition is associated with improved height velocity (Kapoor et al. 2008). In order to find out how common free patient choice is for those commencing GH therapy, and how choice is provided, a questionnaire was sent to all members of the BSPED.A total of 38 questionnaires were received, including from 19 Health Services Human Growth Hormone C...

ea0017p16 | (1) | BSPED2008

Treatment of children with GH: an audit of adherence to NICE guidelines

El Khairi R , Urs M , Nanduri V

Background: The National Institute of Clinical Excellence (NICE) published guidelines in May 2002 on the use of GH in children, recommending GH in 4 conditions: GH deficiency (GHD), Turner Syndrome, Prader-Willi Syndrome and chronic renal insufficiency.Aim: To audit whether GH prescribing at our hospital adheres to NICE guidelines.Methods: A retrospective audit was performed of children commenced on GH treatment between May 2002 an...

ea0017p17 | (1) | BSPED2008

Linear growth patterns in a group of children with cerebral palsy (CP) and other motor disorders

Karabouta Z

Introduction: Poor linear growth in CP associated with osteopenia, increased fracture risk, and decreased muscle mass attributed to nutritional factors as well as non-nutritional factors such as those involving the neurologic or endocrine systems has been well described in literature.Objective: This study assessed the growth of children with CP and other motor disorders attending a Children’s Development Centre for treatment, fed only orally.<p ...

ea0017p18 | (1) | BSPED2008

A case of primary Leydig cell hyperplasia presenting as unilateral testicular enlargement and peripheral precocious puberty in a 7-year-old male child

Mukherjee AL , Greening J , Fisher R , Meyers N

Testicular tumours are uncommon causes of precocious puberty (10%). The majority are Leydig cell tumours and require surgical removal plus chemotherapy. We present an 8 years (8.04 years) old male child who presented with rapid onset of pubic hair growth and right testicular swelling. Examination: his height was (143.3 cm, just above 99.6 th centile), weight (32.3 kg, 91st centile). Pubertal staging at A1, P2, G 4. Left testis 2 ml/right 8 ml. Bloods taken showed prepubertal L...

ea0017p19 | (1) | BSPED2008

Results of a UK survey of oestrogen replacement in patients with Turner syndrome

Gault EJ , Donaldson MDC

Previous work (Bath et al. 2001) has shown that while pubertal induction in Turner syndrome (TS) is fairly standard, post-induction oestrogen replacement is more variable. To identify current practice and to inform the design of two proposed randomised controlled trials (RCTs), a questionnaire was devised on behalf of the British Society for Paediatric Endocrinology and Diabetes for its members, members of the British Society for Paediatric and Adolescent Gynaecology and clini...

ea0017p20 | (1) | BSPED2008

Clinical and biochemical features of exaggerated adrenarche in a Scottish cohort: what investigations are justified?

Paterson WF , Ahmed SF , Bath L , Donaldson MDC , Greene SA , Hunter I , Kelnar CJH , Mayo A , Schulga JS , Smail PJ , Wallace AM

Exaggerated adrenarche (EA) has been linked with low birth weight (LBW) and future development of hyperinsulinaemia and ovarian hyperandrogenism. The Scottish Paediatric Endocrine Group conducted a 3-year prospective study (2004–07) to examine the auxology, insulin status and steroid biochemistry of patients with a clinical diagnosis of EA. Fifty-one patients (43F:8M) were recruited. A 10 ml blood sample (fasted) was taken for biochemical analysis. Pubertal status was ass...

ea0017p21 | (1) | BSPED2008

Premature sexual maturation: incidence and aetiology

Stanley S , Stone E , Kirk J

Over the last few years, we have seen increasing numbers of referrals to our regional paediatric endocrine unit with premature sexual maturation (PSM), especially adrenarche and isolated thelarche. Therefore, we audited referrals for PSM over three years, and compared them to published historical data collected over 15 years in another regional paediatric endocrine unit (Bridges et al. 1994).<thead valig...

ea0017p22 | (1) | BSPED2008

Use of aromatase inhibitor in a boy with short stature and advanced bone age

Thankamony A , Dattani MT , Acerini CL , Hughes IA

Aromatase inhibitors (AIs) have been proposed as a modality in the treatment of short stature in boys. Improvement in final height and predicted final height has been observed in children with constitutional delay of growth and puberty and idiopathic short stature. AIs block the conversion of androgens to estrogens and thus may delay epiphyseal fusion and thereby prolong linear growth. We report our experience with the use of letrozole, a third generation AI, in a boy with gen...

ea0017p23 | (1) | BSPED2008

Prepubertal Cushing's disease: diagnosis and therapeutic outcome

Kumaran A , Chan LF , Martin L , Afshar F , Matson M , Plowman PN , Monsoon JP , Besser GM , Grossman AB , Savage MO , Storr HL

Cushing’s disease (CD) is very rare in prepubertal children, and remains a challenge to diagnose and manage. We review the diagnostic features and therapeutic outcome of prepubertal (defined as testicular volume <4 ml (M) and breast stage <2 (F)) CD patients treated in a single centre. Fifteen prepubertal patients (median age 9.4 years; range 5.8–13.7) fulfilled standard diagnostic criteria for CD and there was male preponderance (12 M (80%), median age 9.1 y...

ea0017p24 | (1) | BSPED2008

Characterisation of seven novel 11β-hydroxylase (CYP11B1) gene mutations: three severe and four mild mutations

Parajes S , Loidi L , Rumsby G , Kirk J , Cole T , Conway G , Quinkler M , Dominguez F , Arlt W , Krone N

Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive disorders. About 5–8% of cases are caused by the deficiency of steroid 11β-hydroxylase (CYP11B1) due to mutations in CYP11B1 gene. CYP11B1-inactivating mutations can be found without particular hot-spot spread over the entire gene. A good phenotype-genotype correlation exists for the patients suffering from 11β-hydroxylase deficiency (11OHD). The prediction of diseas...

ea0017p25 | (1) | BSPED2008

Androstenedione as a marker of disease activity in primary pigmented nodular adrenal dysplasia (PPNAD)

Mason A , Boyd DST , Perry RJ , Wong SC , Wallace AM , Hunter I , Ahmed SF , Shaikh MG

Background: PPNAD is a rare form of bilateral adrenal hyperplasia associated with Carney complex and PRKAR1A mutation. We report the experience of monitoring disease activity in two patients with PPNAD.Both patients (case 1: a 7.4-year-old boy and case 2: a 6.1-year-old girl) presented with rapid onset of cushingoid symptoms, weight gain and hypertension together with multiple freckles and lentigines.Biochemical analysis on both pa...

ea0017p26 | (1) | BSPED2008

The solution for salt Wasters: should we take it with a pinch of salt?

Sachdev P , Persaud J , Plunkett MCB

Salt solutions are routinely used in salt losing conditions like congenital adrenal hyperplasia, pseudohypoaldosteronism, cystic fibrosis and polyuric salt wasting kidney disease. Problems with administration (of a liquid to an increasingly solid diet), compliance and the behavioural impact of altering food preferences abound.We describe the case of a 2-year-old boy DA with aldosterone synthetase deficiency who is currently on fludrocortisone and sodium ...

ea0017p27 | (1) | BSPED2008

Long-term outcome of autosomal recessive pseudohypoaldosteronism

Bandhakavi M , Kirk J , Hogler W , Barrett T , Shaw N

Type 1 pseudohypoaldosteronism (PHA1), defined as resistance to aldosterone, is characterised by salt wasting, hyperkalemia and metabolic acidosis and is associated with high renin and aldosterone levels. The autosomal recessive form is characterised by generalised salt wasting and is due to a defect in the epithelial sodium channel. Whilst there are individual case reports on this condition, there are little published data on long-term outcome including neurodevelopment.<...

ea0017p28 | (1) | BSPED2008

A diagnosis of pseudohypoaldosteronism wrongly given to cousins who were later diagnosed as having Bartters Syndrome and found to have a de novo mutation for the ROMK gene

Mukherjee A L , Greening J , Carrihill M , Dublon V

We present 2 cousin brother and sister, MK and AK (family tree attached in Fig) who presented with a common pattern of hyponatremia with hyperkalemia, hypomagnesaemia, salt wasting, hyperaldosterinism and hyper-reninaemia in their neonatal life with polyuria. A diagnosis of pseudohypoaldosteronism was made and they were commenced on sodium supplements and indomethacin.The shaded boxes are in utero deat...

ea0017p29 | (1) | BSPED2008

Outcome in Scottish adults with permanent congenital hypothyroidism born between 1979 and 1991

Jones J , Young D , Robertson A , Donaldson M

Introduction: Despite extensive research into IQ scores in congenital hypothyroidism (CH) during childhood there is little information on adult outcome in terms of pragmatic measures such as educational achievement, employment, residency and relationships.Patients and methods: We present the results of a questionnaire-based study examining these outcome measures in Scottish adults with permanent CH born between 1979 and 1991. The unaffected siblings of o...

ea0017p30 | (1) | BSPED2008

Diagnostic accuracy of four modalities: venous thyroid function tests, thyroglobulin, ultrasound and 99mpertechnetate scanning (Quattro mode): in the investigation of newborns referred with TSH elevation

Neumann D , Jones J , Perry R , Kaur H , Maroo S , Attaie M , Thompson E , Butler S , Irwin G , Watt A , Pohlenz J , Donaldson M

Introduction: Thyroid imaging in the newborns referred with TSH elevation is helpful in establishing a lifelong diagnosis of congenital hypothyroidism (CH), in defining the cause and hence assisting with genetic counselling and in gauging thyroxine requirement.Study aims: To compare diagnostic success when using one, two, three or all four (Quattro mode) of the following modalities – pre-treatment venous thyroid function tests (TFTs), quantitative t...

ea0017p31 | (1) | BSPED2008

A review of childhood thyroidectomies

Joseph L , Holme N , Alvi S

Aim: Thyroid surgery in children is infrequently undertaken, but due to genetic screening of families with multiple endocrine neoplasia (MEN) syndromes, more paediatric thyroidectomies are being performed. In this study we explored the indications for thyroidectomy and the post operative course and consequences of surgery carried out in our unit.Methods: Retrospective review of medical case notes of children who had either total or partial thyroidectomie...

ea0017p32 | (1) | BSPED2008

TRIAC and carbimazole combination therapy in pituitary thyroid hormone resistance

Ali K , Culley V , Morovat R , Ryan F , Edge J

We present a difficult case of pituitary thyroid hormone resistance (PTHR) in a 6 year old girl. She presented at the age of 22 months with chronic cough, diarrhoea, failure to gain weight and gross motor delay. She was also noted to be hyperactive and clumsy with poor co-ordination. Persistent tachycardia was present on examination. Thyroid function tests revealed increased thyroid hormone concentrations with a free T4 of 63.7 pmol/l (9–25) and a free T3 of 20 pmol/l (3....

ea0017p33 | (1) | BSPED2008

Pseudohypoparathyroidism: an evolving clinical and biochemical picture

Joshi S , Cheetham T

Introduction: Children with pseudohypoparathyroidism (PHP) can have a broad range of phenotypic features and biochemical abnormalities. The heterogeneity of this patient group prompted us to review the clinical features of these children in our service.Methods: We recorded the mode of presentation, clinical features, growth pattern, biochemical profile and progress of 13 paediatric patients with PHP and hypocalcaemia under review in our service over a 11...

ea0017p34 | (1) | BSPED2008

Hereditary vitamin D resistant rickets (HVDRR), diagnostic and therapeutic challenges

Ali K , Allgrove J , Ryan F

Case history: A 2 year old Pakistani boy born of consanguineous parents was referred for a dermatological opinion as he had total alopecia. He was born with a full crop of hair, which was shaved at 7 days of age as per religious custom and had not grown back. His motor milestones were delayed such that he started crawling at 14 months and was unable to walk independently. His weight was on the 0.4th centile and his height (72 cm) was far below the 0.4th centile. His anterior f...

ea0017p35 | (1) | BSPED2008

Maternal uniparental disomy of chromosome 14 and Silver--Russell syndrome: a new genetic association

Dias R , Storr H , Johnston L , Savage M , Clark A

Introduction: Silver–Russell Syndrome (SRS) is a heterogeneous condition characterised by low birth weight, postnatal growth failure and clinical features including relative macrocephaly, limb or facial asymmetry and a triangular facies with broad forehead, pointed chin and downturned mouth. SRS been linked to a number of genetic abnormalities including maternal uniparental disomy (UPD), of chromosome 7 and hypomethylation of the IGF2-H19 imprinted region on chromosome 11...

ea0017p36 | (1) | BSPED2008

Outcomes of screening protocol in children at risk of Von-Hippel Lindau syndrome

Prasad R , Martin L , Savage M , Storr H , Johnston L

Von-Hippel Lindau syndrome (VHL) is a familial disorder presenting in children with a range of different neoplasia. A paediatric screening protocol was published in 2000 and has now been applied to patients in our centre. Screening for VHL is multi-disciplinary involving clinical, biochemical, and radiological investigations.Methods: Data was collected between 2000 and 2007 in 14 children on compliance with screening and identification of pathological le...

ea0017p37 | (1) | BSPED2008

Increased incidence of low birthweight, prematurity and antenatal complications in Prader Willi syndrome

Paterson WF , McGowan R , Smyth A , Cooke A , Donaldson MDC

The Prader Willi syndrome (PWS) is a complex, neurodevelopmental disorder resulting from absence of expression of imprinted genes in the 15q 11–13 region, usually due to deletion in the paternal chromosome (pd15q) or disomy of the maternal chromosome 15 (upd). Prompt diagnosis of PWS is beneficial for counselling families, managing the hypotonia and poor feeding that characterise the perinatal period and facilitating early interventions that may improve body composition a...

ea0017p38 | (1) | BSPED2008

An exploratory investigation into the cognitive profile of children with congenital hyperinsulinism of infancy (CHI)

Rust S , Patel L , Clayton P , Skae M , Banerjee I , Harrison A , Amin R , Rigby L , Hall C

Previous research concerning the cognitive profile of children with CHI has identified a high incidence of significant learning difficulty (Rother et al. 2001, Jack et al. 2003). Both studies report an incidence of 30 to 50% cognitive skills within the learning disability range in both study populations. Furthermore, Rother et al. (2001) suggested that all children investigated demonstrated some form of cognitive difficulty, ranging from learning disabilit...

ea0017p39 | (1) | BSPED2008

Hyperinsulinism--hyperammonaemia (HI/HA) syndrome: novel mutations in the GLUD1 gene and genotype phenotype correlations

Kapoor R , Flanagan S , Shield J , Chakrapani A , Ellard S , Hussain K

Background: Hyperinsulinism–hyperammonaemia (HI/HA) syndrome is caused by gain of function mutations in the GLUD1 gene. Patients present with recurrent hyperinsulinaemic hypoglycaemia (HH) together with asymptomatic, persistent elevation of plasma ammonia levels. Leucine sensitivity is an important feature of this condition.Objectives: The aim of this study was to understand the genotype phenotype correlations in patients with HH due to GLUD1 mutati...

ea0017p40 | (1) | BSPED2008

Hypoglycaemia screens: are they worth it?

Elder C , Wright V , Wright N

Background: Patients attending our A+E department with hypoglycaemia have a number of samples collected including metabolic investigations, growth hormone (GH) and cortisol. Most of these children have an intercurrent illness. There is a paucity of published data examining how cortisol and GH respond to ‘physiological hypoglycaemia’.Aims: To assess if peak levels of GH and cortisol correlate with the degree of hypoglycaemia and to evaluate how ...

ea0017p41 | (1) | BSPED2008

Abstract withdrawn....

ea0017p42 | (1) | BSPED2008

Body composition and cardiovascular risk factors in survivors of bone marrow transplantation (BMT) in childhood

Davis N , Stevens M , Cornish J , Elson R , Stuart C , Woltersdorf W , Crowne E

Background: There is emerging evidence that BMT survivors not only suffer long term endocrine sequelae, but also have increased risk of cardiovascular disease and T2DM. We examined body composition and cardiovascular and metabolic risk factors in adolescent and young adult survivors.Method: We enrolled 36 BMT survivors (20 male). Seven were pre-pubertal, 9 pubertal, and 20 post-pubertal. We measured body composition by DEXA scan and BMI, and fasted lipid...

ea0017p43 | (1) | BSPED2008

The phenotypic variation of inactivating and activating mutations of the calcium sensing receptor (CaSR)

Naidu Yuva , Allgrove Jeremy , Brain Caroline

Introduction: Inactivating mutations of the calcium sensing receptor (CASR) are associated with familial benign hypercalcaemia (FBH) and neonatal severe hyperparathyroidism whilst activating mutations are associated with autosomal dominant hypocalcaemia (ADH) and Bartter syndrome Type V.Aims: To highlight the phenotypic and biochemical variability seen with both activating and inactivating mutations of the CaSR.Methods: To describe...

ea0017p44 | (1) | BSPED2008

Clinical challenges in children with Type I diabetes mellitus aged less than 6 years old in a UK region

Anderson Y , De Palma A , Widmer B , Ong K , Acerini C

Objectives: To assess current clinical practice in children aged 0–5.99 years with Type I Diabetes Mellitus (T1DM).Methods: All paediatric diabetes centres (n=17) within a single UK region were asked to provide retrospective data for the year ending 01/12/07. 15 (88%) centres responded and provided data for each child on presentation, initial and current insulin regimens. Outcome measures were HbA1c, and acute hospital admissions post-diagnos...

ea0017p45 | (1) | BSPED2008

Parental diabetes knowledge and glycaemic control of their children: a questionnaire study

Joseph L , Bentley A , Mathew V

Aim: Management of type 1 diabetes in children is a complex process. Active participation of the child and family in diabetes care is essential for achieving good glycaemic control. A good parental understanding of diabetes and its management would be considered a prerequisite for their involvement in the care of their children’s diabetes. The aim of this study was to explore the relationship between parental knowledge of diabetes self management and glycaemic control of ...

ea0017p46 | (1) | BSPED2008

Comparison of insulin glargine and insulin detemir in children and adolescents with type 1 diabetes using multiple daily injections

Malik S , Kirk J , Shaw N , Hogler W , Day E , Barrett T

Aims: To compare glycaemic control and weight gain in children with type 1 diabetes changing from twice daily premixed insulin to multiple daily injections (MDI) with either insulin glargine or insulin detemir.Methods: A retrospective study of 41 consecutive children and adolescents with type 1 diabetes, changed to MDI between January 2005 and April 2007, with outcome measures of HbA1C change and body mass index SDS (BMI-SDS) change after 12 months of MD...

ea0017p47 | (1) | BSPED2008

Pilot study to improve attendance rates at paediatric diabetes clinics

Natarajan A , Sharma D , Aswani D , Gunn E , Taylor P , Ince A

Diabetes mellitus like all chronic illnesses requires lifelong management (self or guided) with regular health professional support and supervision. Non-attendance at outpatient clinics (OPD) is a common cause of inefficiency in our current health care system causing undue wastage of clinician time and resources and potentially lengthening waiting times.Aim: The aim of our pilot project was to improve our diabetes OPD from the current attendance of 78% t...

ea0017p48 | (1) | BSPED2008

DIASEND®: one device to read them all and in the clinic guide them

Lamb W

Introduction: For years we have used data downloaded from blood glucose meters (BGM) in our diabetes clinic as an aid for discussion and management. Unfortunately allowing free choice of BGM needs several different download programmes and cables, introducing unnecessary complexity and delay. DIASEND® developed by the Swedish company Aidera AB represents a possible solution.Methods: DIASEND® combines hardware and software with a secure internet ...

ea0017p49 | (1) | BSPED2008

Type 1 diabetes: what do parents want to know at diagnosis? A pilot study

Bajaj M , Mathew V , Holland P

Aim: To explore parents’ views on what information should be given when a child is diagnosed with Type 1 diabetes.Method: A questionnaire based, mixed quantitative and qualitative pilot study was conducted. All children diagnosed in the previous year were identified. A questionnaire which contained a list of topics recommended by NICE/ISPAD was developed. Parents were asked to complete this after their clinic appointment. They were asked to divide t...

ea0017p50 | (1) | BSPED2008

Influence of body mass index and inherited insulin sensitivity on the age of diagnosis and autoantibody status in childhood Type 1 diabetes

Howey C , O'Sullivan J , Ram R , Iyer S , Leech N , Cheetham T

Introduction: The incidence of Type 1 diabetes (T1D) is rising. The effect of increasing BMI in children has been proposed. A relationship between age of diagnosis of T1D and BMI SDS has been reported by some but not confirmed in all studies. We propose age of diagnosis and autoantibody status may be influenced by BMI and inherited factors relating to BMI and insulin resistance.Methods: BMI SDS was calculated in 230 children with newly diagnosed T1D, 4&#...

ea0017p51 | (1) | BSPED2008

3D animation for the education of young (4–8 years old) children with type 1 diabetes mellitus and their families

Neumann D , Vavrinka B , Jones J , Gallacher C , Craigie I , Donaldson M

Introduction: Education of young children with type 1 diabetes mellitus is challenging. We report a collaboration between a hospital diabetology team and a young, diabetic 3D animator.Materials and methods: This resulted in a novel education tool – a series of five 3D cartoons lasting 5–6 min linked by a diabetic diary. Part 1 describes normal glucose metabolism in a healthy body. Part 2 describes diabetes and DKA. Parts 3–5 deal with: ini...

ea0017p52 | (1) | BSPED2008

Comparison of twice daily insulin and multiple daily insulin regimens in children and adolescents newly diagnosed with type 1 diabetes

Lyder G , Kirk J , Barrett T , Shaw N , Hogler W

Aims: To compare glycaemic control and change in body mass index (BMI) in children and adolescents newly diagnosed with type 1 diabetes (T1D) and started on either twice daily insulin (BD) or multiple daily insulin (MDI).Methods: This study looked retrospectively at all children newly diagnosed with T1D at our hospital from January 2006 to June 2007. There were 44 children and the outcome measures used were change in haemoglobin A1c (HbA1...

ea0017p53 | (1) | BSPED2008

Social factors and glycaemic control in children with type 1 diabetes mellitus

Sinha Akash , Cassans Rebecca , Kibirige Mohammed

Aims: To determine whether single parenthood, special needs, ethnicity and indices of multiple deprivation 2007(proxy for social deprivation) influence metabolic control in T1DM.Methodology: Retrospective study (12 months) from 01/01/2007 till 31/12/2007. Data on several demographic and clinical variables were obtained from 105 children with T1DM from a single centre, after applying explicit exclusion criteria. Glycaemic control was assessed using HbA1c ...

ea0017p54 | (1) | BSPED2008

Seasonality of disease onset and of birth in type 1 diabetes mellitus

Bandhakavi M , Kirk J

Background: It is recognised that the incidence of type 1 diabetes mellitus (T1DM) is increasing in the United Kingdom, especially in young patients (<5 y). Although seasonal variation in the onset of T1DM, with autumn and winter peaks, and also in the month of birth has been described, it was our perception that new patients were presenting throughout the year to our unit.Methods: Data was available on 440 newly diagnosed cases of TIDM, (100, 173 an...

ea0017p55 | (1) | BSPED2008

Physical fitness of seven-year old children

Turvey A , Marlow R , Adams G , Smith R , Agwu JC

In recent times, there has been concern about the rising prevalence of obesity in children. Physical fitness, defined as a set of attributes possessed by individuals which relates to the ability to perform physical activity, is a key pathway to healthy living. As part of a larger programme called ‘Triple S’, (designed to underpin a schools health related project) we undertook field-based physical testing of 1733 (7 yr olds) (902 M & 831 F) from 49 primary schools...

ea0017p56 | (1) | BSPED2008

Implementing the RCN competency framework for paediatric endocrine nurses

Davies K , P Musson , Casey A , Walker J , Whitehead A , Martin L , Langham S , McNeill E , Reid J , Davies JH

Background: There have been a number of drivers that have led nurses to take on extended roles that have been traditionally been the domain of doctors. Competency frameworks for specialist nurses have been developed in other paediatric specialities, such as diabetes, oncology and epilepsy. However, this has not been established for paediatric endocrine nurses.Aim: To establish a competency framework for paediatric endocrine nurse specialists.<p class...