(1)

Introduction: Lipoatrophy (LA) was common before the advent of recombinant human insulin. More recently, insulin analogues have been widely introduced into paediatric practice. In the literature, LA has only been reported so far with insulin Lispro (Lily, USA) (n=4 adult patients and 3 children) and insulin Glargine (Sanofi-Aventis, France) (n=1 adult patient). To our knowledge; this is the first report of LA with insulin Aspart (NovoRapid), biphasic insulin Aspa...

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ea0023p2 | (1) | BSPED2009

Scopes and Barriers for management of childhood obesity

Thornton Wayne , Dhorajiwala Trupti , Bose-Haider Bratati , Puttha Radhika

Objective: The aim of our study is to evaluate the current practice, resources available and barriers to primary and secondary professionals providing care for children who are overweight or obese.Methods: A questionnaire was sent to primary and secondary care providers including General Practitioners (GP), Practice Nurses (PN), Health visitors, school nurses and community nurses in a selected Primary Care Trust and hospital doctors in Pennine Acute Trus...

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ea0023p3 | (1) | BSPED2009

Abstract withdrawn....

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ea0023p4 | (1) | BSPED2009

Use of clinic proforma as a tool has been shown to improve diabetic reviews

Law James , Thomas Dougie

Acute and long-term complications attributable to diabetes are regrettably still common. To monitor for the development of such complications NICE recommend regular measurement of certain criteria to enable early intervention. A previous audit performed in our hospital looked at the adherence of paediatric diabetic reviews to NICE guidelines. As a consequence of this audit a detailed pro-forma to be used at all paediatric diabetic reviews was introduced....

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ea0023p5 | (1) | BSPED2009

Hyponatremia in Type 1 Diabetes: Pseudohyponatremia or presentation of autoimmune Adrenal Dysfunction

Mohyuddin Haseeb , Santanam Priya , Puthi Vijith

Autoimmune destruction of adrenal gland is rare in the paediatric population and can present in type 1 diabetic mellitus (TIDM). Patients with TIDM are routinely screened for Autoimmune hypothyroidism and coeliac disease. We would like to present an unusual case of hyponatremia in patient with TIDM due to simultaneous developments of both glucocorticoid and mineralocorticoid deficiency.Fourteen-year-old Type 1 Diabetic male presented with incidental pers...

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ea0023p6 | (1) | BSPED2009

Growth, Final Height and Endocrine Sequelae post Bone Marrow Transplantation in a UK population of patients with Hurler Syndrome (MPS 1H)

Gardner Chris , Robinson Nicola , Mercer Jean , Meadows Tim , Will Andrew , Wynn Robert , Wraith Ed , Clayton Peter

Introduction: Hurler Syndrome, (MPS1H) is an inborn error of metabolism which was previously fatal in childhood. Bone marrow transplantation (BMT) has transformed the prognosis for these children. First BMTs are preconditioned with chemotherapy, and we have therefore put in place surveillance for endocrine sequelae. We present for the first time data on final adult height in children with MPS 1H post BMT, as well as the endocrine complications seen in this cohort.<p class=...

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ea0023p7 | (1) | BSPED2009

Increased Hypothalamic-pituitary-adrenal axis (HPAA) activity after childhood bone marrow transplantation (BMT) with total body irradiation (TBI) results in chronic hypercortisolaemia associated with obesity

Davis Nikki , Elson Ruth , Stewart Claire , Moss Andrew , Woltersdorf Wolf , Cornish Jacqueline , Stevens Michael , Crowne Elizabeth

Introduction: Data on the impact of TBI on the HPAA are limited. This study investigates the HPAA in BMT-survivors and non-BMT controls using overnight serum cortisol profiles and midnight/9am ACTH levels.Subjects (N=35): N=14, child (7), adult (7) controls, N=21 child (7), adult (14) BMT-survivors (TBI dose 12.0-14.4Gy). None had had treatment with corticosteroids in the last year.Method: Subjects rested for 3...

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ea0023p8 | (1) | BSPED2009

The Current UK Experience of Recombinant IGF1 For Cases of Severe Primary IGF1 Deficiency

Mushtaq Talat , Ahmed S Faisal , Emohare Osa , Patel Leena , Rose Stephen , Shaw Nick

Background: Severe primary IGF1 deficiency (SPIGFD) is defined in children as a height less than −3sds, low IGF1 levels with normal growth hormone levels. Recombinant IGF1 (rhIGF1, Mecasermin) given twice daily as a subcutaneous injection is the only therapy available to improve the height potential in this group of children. However it may have important side effects including hypoglycaemia, growth of lymphoid tissue and injection site lipohypertrophy.<p class="abst...

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ea0023p9 | (1) | BSPED2009

Improvement in growth of children with crohn's disease following anti-TNFα therapy can be independent of pubertal progress and glucocorticoid reduction

Malik Salma , Wong Jarod , Bishop Jonathan , Hassan Kamal , McGrogan Paraic , Russell Richard , Ahmed Faisal

Introduction: Treatment with anti-TNFα therapy such as infliximab may improve growth in children with CD but the extent of improvement in growth and its relationship to pubertal progress and changes in glucocorticoid therapy are unclear.Aim: A retrospective study of growth, puberty and disease activity over the 6 months prior (T−6) to starting infliximab, at baseline (T0) and for the following 6 months (T+6) in CD. Results are expressed as med...

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ea0023p10 | (1) | BSPED2009

Defining Criteria for Poor Responders to Growth Hormone (GH) in Short Children Born Small for Gestational Age (SGA)

Omokanye A , Onyekpe I , Patel L , Banerjee I , Amin R , Hall C , Clayton P

An estimated 5% of all newborns are born SGA (weight less than −2SD at birth), with 10% failing to catch up and becoming eligible for GH treatment. Not all children respond to GH, but the criteria for determining a non-responder have not been clearly defined. We have therefore evaluated first year growth performance of short SGA children treated with GH in The Growth Clinic, Manchester. Clinical and auxological data were collected retrospectively from the case records of...

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ea0023p11 | (1) | BSPED2009

Evaluation of an automated bone age scoring program against a single observer, using the TW3 scoring system

Gopaul Shireen , Mushtaq Talat

Background: Bone age assessment is used in the management and monitoring of treatment effects in growth disorders. This may be associated with a considerable variability between reporters. This subjectivity has raised questions about acceptable levels of error in our current practice and has led us to search for other tools for assessing bone ages.Method: A single observer was trained in reporting bone ages using Tanner Whitehouse 3 atlas and these resul...

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ea0023p12 | (1) | BSPED2009

The IGF system during acute hypoxia in children

Custodio Rodrigo , Custodio Viviane , Scrideli Carlos , Cervi Maria , Cupo Palmira , Martinelli Jr Carlos

The hypoxia, associated to intra-uterine growth restriction, is related to high concentrations of IGFBP1 and unchanged concentrations of IGF1 in animals. Nevertheless, during threatening life events, low IGFI concentrations and high IGFBP1 concentrations was reported. Furthermore, severe hypoxia increased the IGF1R expression of the neuronal growth cones in the ovine fetal brain. No information is available regarding the regulation of the IGF system by the acute hypoxia in hum...

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ea0023p13 | (1) | BSPED2009

Reduced growth hormone secretion in children and young adults following total body irradiation (TBI) for bone marrow transplantation (BMT) in childhood

Davis Nikki , Elson Ruth , Stewart Claire , Moss Andrew , Woltersdorf Wolf , Cornish Jacqueline , Stevens Michael , Crowne Elizabeth

Introduction: Growth hormone deficiency (GHD) after cranial irradiation (CRI) is time, dose and fraction dependent. TBI (1214.4Gy) involves low dose CRI, and skeletal irradiation causing further adverse growth effects. We present baseline data from a prospective study of GH treatment.Subjects N=25: We studied 13 BMT survivors (all had TBI, 3 also had CRI <18Gy), and 12 non-BMT subjects investigated for GHD. Both groups contained y...

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ea0023p14 | (1) | BSPED2009

Growth restriction with insufficient growth hormone production in a child with variant Miller-Dieker syndrome

Marsh Rosemary , Raine Joseph

Introduction: We describe a girl presenting with abnormal facial features, growth restriction with insufficient growth hormone production and learning difficulties. She has an unbalanced translocation between 17p13.3 and 10q26.13 causing a microdeletion at 17p13.3 and trisomy of 10q26.Case report: At presentation at 7½ years of age, her height was 4 cm below the 0.4th centile with a growth velocity of 1.6 cm/year; weight was on 0.4th centile. Invest...

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ea0023p15 | (1) | BSPED2009

Growth hormone therapy in the treatment of short stature in cardio-facio-cutaneous syndrome

Kumar Priya , Fryer Alan , Ellison Julie , Blair Joanne

Background: The term neuro-cardio-facial-cutaneous (NCFC) syndrome describes a group of phenotypically overlapping syndromes that result from germline mutations in genes of the RAS-MAPKinase pathway. This pathway plays a role in growth factor signalling and short stature is a consistent feature of NCFC syndromes. This diagnostic group includes Noonan syndrome (NS) and cardio-facio-cutaneous (CFC) syndrome. Growth hormone (GH) has been used with good effect in NS. T...

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ea0023p16 | (1) | BSPED2009

Two novel missense mutations in MRAP (p.Y59D and p.V26A) that lead to late onset Familial Glucocorticoid Deficiency (FGD) type 2

Hughes Claire , Chung Teng-Teng , Clark Adrian , Metherell Louise

Background: FGD is an autosomal recessive disorder causing glucocorticoid deficiency. Mutations in the ACTH receptor (MC2R) or the MC2R accessory protein (MRAP) cause FGD types 1 & 2 respectively. All the reported MRAP mutations result in abolition of a functional protein. This is reflected clinically as type 2 patients present early, no patient described to date has presented later than 1.6yrs. In contrast FGD type 1 mutations are usually missense and patients have a medi...

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ea0023p17 | (1) | BSPED2009

Severe glucorticoid deficiency in 17-hydroxylase deficiency – novel mutation in the CYP17A1 gene

Greening James , Taylor Norman , Arlt Wiebke , Shenoy Savitha

CYP17A1 is a key enzyme of human steroidogenesis, which is unique in that it catalyses two reactions, 17-hydroxylase activity and 17,20 lyase activity. 17-hydroxylase deficiency, a variant of congenital adrenal hyperplasia, results in hypertension and mild glucocorticoid deficiency. Loss of 17,20 lyase activity results in sex steroid deficiency, presenting with undervirilisation in boys (46, XY DSD) and lack of pubertal development in girls. Here we present the cases of two si...

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ea0023p18 | (1) | BSPED2009

Current use of the Synacthen Test: A questionnaire survey of British Paediatric Endocrinologists

Sachdev Pooja , Wright Neil , Elder Charlotte

Background: Over the last two decades, supported by two metanalyses, the low-dose Synacthen Test (LDST) has gained in popularity, with many believing it to be more sensitive than the supra-physiological Standard (250 microgram) Short Synacthen Test (SSST). The literature reveals lack of consensus about its specific clinical applications, what is considered low-dose and how that dose is made up.Methods: To ascertain current UK practice,...

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ea0023p19 | (1) | BSPED2009

Congenital adrenal hyperplasia: incidence, prevalence and rationale for inclusion on the newborn screening programme in the Republic of Ireland

McDonnell Ciara , White Mary , Kelleher Suzanne , Murphy Nuala

Introduction: Congenital Adrenal Hyperplasia (CAH) carries a high risk of morbidity and mortality in undetected affected infants and has an estimated incidence of 1:15 000 based on newborn screening programmes internationally. This project aimed to identify cases and mode of diagnosis of CAH in the Republic of Ireland (ROI) to establish the case if any for screening.Methods: (i) A retrospective questionnaire was sent to all consultant paediatricians in R...

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ea0023p20 | (1) | BSPED2009

Synacthen tests in children with asthma on high dose inhaled corticosteroids

Avatapalle Hima Bindu , Sachdev Pooja , Wright Neil , Elder Charlie

Background: Adrenal suppression is a well recognised complication of inhaled corticosteroids. Committee for Safety of Medicines (CSM) guidelines (2006) recommend that children taking high dose inhaled corticosteroids (HDICS) are tested for adrenal insufficiency. Patients requiring steroid replacement require a steroid card and written advice on steroid replacement in acute illness.Aims: To determine the impact of CSM guidelines on the use of short synact...

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ea0023p21 | (1) | BSPED2009

Adrenal hypoplasia congenita presenting as sudden death in the newborn: how should we manage subsequent siblings?

Alvi Sabah , Basu Shimona , Mushtaq Talat

Introduction: Adrenal hypoplasia congenita (AHC) is often difficult to differentiate from congenital adrenal hyperplasia in the early stages of life. Both can present with severe salt-losing crises, and in some cases, even sudden, unexpected death. In particular there tend to be no abnormalities of the genitilia in AHC thus delaying a possible diagnosis. In the autosomal recessive form of AHC, the absence of a recognised single gene mutation can cause significant difficulties ...

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ea0023p22 | (1) | BSPED2009

Nepalese StAR

Moon Rebecca , Achermann John , Lin Lin , Wickramasuriya Nalin , Walker Joanna

Introduction and Case report: Congenital adrenal hyperplasia (CAH) is a heterogenous group of conditions resulting from inborn errors of steroidogenesis, of which over 95% are due to 21-hydroxylase deficiency.We present a 15-year-old Nepalese female, who was referred to the endocrine clinic for management of CAH. This diagnosis had been at 11 months of age, whilst resident in Hong Kong, when she presented acutely with vomiting and seizures. She had since...

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ea0023p23 | (1) | BSPED2009

The Androgen Status Of Young Women With Premature Ovarian Failure Depends On The Female Sex Steroid Replacement Regimen

Mason A , Wallace M A , MacIntyre H , Teoh P Y , Bath L E , Critchley H O , Kelnar C J H , Wallace H W B , Ahmed S F

Aims: To compare the effect of a standard Sex Steroid Regimen (sSSR) with a physiological SSR (pSSR) on androgen status in young women with premature ovarian failure (POF).Patient Population: Seven women with POF were evaluated for the study. The median age was 28 years (range 2136) and the median duration of ovarian failure was 14 years (range 425).Methods: An open label randomised, controlled, crossover study over 28 ...

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ea0023p24 | (1) | BSPED2009

Age at menarche and pubertal education in the London Borough of Islington

Prentice Philippa , Raine Joseph

There is data suggesting that puberty is starting earlier than in previous generations. However, there is minimal information on menarche and its management in UK primary schools. We present a population study, performed in Islington: a London borough with wide ethnic diversity, conducted using written questionnaires to all primary schools. Data collected included: information on menarche, provision and disposal of sanitary towels and teaching on puberty. 22 (50%) replies were...

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ea0023p25 | (1) | BSPED2009

Diagnostic Challenges in Androgen Insensitivity Syndrome & 5 Alpha Reductase Deficiency

George E T , Alvi S , Taylor N K , Mushtaq T

Introduction: The clinical differentiation between androgen insensitivity syndrome (AIS) and 5 alpha reductase deficiency (5-ARD) can be difficult. Presenting features may be similar and initial investigations may still not be discriminatory.Methods: Case notes on a total of ten patients with the initial diagnosis of AIS or 5-ARD were retrospectively reviewed.Results: All ten children had a 46XY male karyotype. Four children were r...

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ea0023p26 | (1) | BSPED2009

Prevalence of congenital malformation in Scottish children with true congenital hypothyroidism 1979–2009

Alghanay Alghanay , Jones Jez , Stone David , Donaldson Malcolm

Introduction: The prevalence of congenital malformations (CM) in congenital hypothyroidism (CH) is higher than expected, particularly for cardiac malformations, but the published data vary considerably from 2.4% to 24% in different series.Methods: Using existing databases for CH and Scottish population statistics, we have retrospectively determined the prevalence of cardiac, noncardiac and syndromic disorders in Scotland since the int...

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ea0023p27 | (1) | BSPED2009

Factors that influence the decision to perform a karyotype in suspected disorders of sex development: lessons from the Scottish Genital Anomaly Network Register

Rodie Martina , Mayo Amalia , Midgley Paula , Driver Chris , Kinney Maureen , Faisal Ahmed Syed

Background: The Scottish Genital Anomaly Network(SGAN) is a national managed clinical network that provides care to patients with a suspected disorder of sex development(DSD). Factors that influence the decision to perform a karyotype in suspected DSD are unclear.Aim: To explore the SGAN register to study the factors that influence the decision to perform a karyotype. Variables examined included centre of presentation, examination findings and associated...

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ea0023p28 | (1) | BSPED2009

46 XY girls – the importance of careful newborn examination

Sharp Tim , Fraser Nia , Shenoy Manoj , Randell Tabitha , Denvir Louise , Williams Alun

Introduction: Disorders of sexual differentiation (DSD) are uncommon and pose many challenges to families affected and clinicians. The genotypic 46XY male with female phenotype form an interesting group with diverse presentation. We studied all such children attending our multidisciplinary DSD clinic. Only in a minority of these children did newborn examination raise the possibility of DSD. Delays in identifying these abnormalities can cause significant psychological difficult...

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ea0023p29 | (1) | BSPED2009

46, XY DSD: A case of clinical and biochemical conflict

Myers Aisling , Hughes Ieuan , Achermann John , Lynch Sally Ann , Roche Edna , Hoey Hilary

Introduction: We describe a case of 17- beta hydroxysteroid dehyrogenase Type III (17-βHSD3) deficiency in a girl from the travelling community. This case demonstrates how the clinical picture may not correlate with the biochemical results.Case: A 4.7 year old girl presented for elective hernia repair. Intraoperatively, what was felt to be a testis was palpated. Investigations revealed a 46, XY karyotype. Pelvic ultrasound demonstrated absence of mu...

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ea0023p30 | (1) | BSPED2009

Congenital hypothyroidism – A thirty year audit of the National Newborn Screening Programme in the Republic of Ireland

McDonnell Ciara , Carroll Aoife , Dockeray Sylvia , Mayne Philip , Murphy Nuala

Introduction: Congenital hypothyroidism (CHT) has a reported incidence of 1:3500 in Caucasian populations. Early detection by newborn screening and appropriate L-thyroxine treatment leads to normal or near-normal neurocognitive outcome.The National Newborn screening programme (NNP) was established in Childrens University Hospital, Temple St. in 1979. This study aimed to ascertain the incidence of congenital hypothyroidism in the Republic of Ireland...

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ea0023p31 | (1) | BSPED2009

Prophylactic Thyroidectomy in Children with Multiple Endocrine Neoplasia Type 2

Morkane Clare , Raptis Dimitri , Brain Caroline , Spoudeas Helen , Dattani Mehul , Hindmarsch Peter , Piero Agostino , DeCoppi Paolo , Kurzawinski Tom

Background: The most common cause of death in patients with Multiple Endocrine Neoplasia type 2 is medullary thyroid carcinoma. All patients with MEN2 develop this cancer and Prophylactic Thyroidectomy (PT) is recommended to prevent malignant transformation.Method: This study reviews our experience of treating children identified as carriers of a RET mutation diagnostic of MEN-2A. Data was collected by reviewing patient notes and hospital electronic data...

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ea0023p32 | (1) | BSPED2009

Has the change in Guthrie TSH cut off point made an impact in early detection & management of congenital hypothyroidism?

Kumbattae Umadevi , Smith Trish

Introduction: Neonatal thyroid screening commenced in the UK in 1981. The TSH cut off point cut off point has changed from 80 mu/l to 25 mu/l over the period for early detection and referral. From April 2006 in the West midland this has dropped to 20 mu/l as upper level and 10 mu/l as lower level.Method: Retrospective audit was undertaken in our hospital on babies referred with an abnormal Guthrie test for a period of 13 years from April 1996 to April 20...

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ea0023p33 | (1) | BSPED2009

Is There A High Incidence Of Graves' Disease In Doncaster And What Are The Potential Causes? A Retrospective Study

West James , Natarajan Anuja

Graves disease is the most common cause of hyperthyroidism in children. The incidence in the UK and Ireland is unknown but estimated to be 0.84 per 100 000 people (015 yr olds). Due to an apparent high local incidence, a retrospective study was conducted on patients diagnosed with Graves disease in a district general hospital in the locality.Aim: To evaluate the clinical features, investigations and treatment of patients diagnosed from ...

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ea0023p34 | (1) | BSPED2009

What skills do young people attending paediatric endocrine clinics feel they need before transfer to adult services?

Yohananthan Keerthiga , Jones Julie , O'Shea Elaine , Amin Rakesh , Banerjee Indi , Hall Catherine , Patel Leena , Clayton Peter , Gleeson Helena

Background: A key element of the transition process is encouraging young people (YP) to become more independent in their healthcare. However it is not known what skills YP feel they need before being ready for transfer to adult services.Method: A simple questionnaire was designed for YP to rate out of 5 A. their current status in terms of 5 aspects of independence in healthcare (5 yes, I do it all of the time to 1 no, my family does it ...

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ea0023p35 | (1) | BSPED2009

Point of care glucose monitoring on the Neonatal Unit: An audit project

Makaya T , Bustani P , Memmott A

Introduction: Assessment of hypoglycaemia in neonates is challenging due to limited blood availability, and lower glucose readings compared to adults. ISO criteria used to assess the accuracy of glucometers are based on adult needs where values below 4.2 mmol/l require intervention. National neonatal guidelines define an action threshold for hypoglycaemia as a glucose below 2mmol/l. We currently use a Radiometer ABL-735 blood gas analyser which uses 35 microlitres of blood. We...

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ea0023p36 | (1) | BSPED2009

What do young people think about seeing the doctor alone in paediatric endocrine clinics?

Gleeson Helena , O'Shea Elaine , Jones Julie , Patel Leena , Hall Catherine , Banerjee Indi , Amin Rakesh , Clayton Peter

Background: Seeing the doctor alone has been associated with a better outcome following transition to adult services.Methods: A simple questionnaire was designed for young people (YP) to enquire about being seen alone in paediatric endocrine clinics.Results: The questionnaire was administered to 72 YP young people (37 male) with long term endocrine conditions. The mean age was 15.5 (2.5). 10% of YP thought they should be offered th...

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ea0023p37 | (1) | BSPED2009

Pitfalls of the four hour wait: keeping alert to potential endocrine presentations in Accident and Emergency

Cattaneo Elena , Hockings Catherine Ann , Foley Eleanor , James Matthew , Buck Jackie

Background: Emergency staff are under pressure to assess and refer within tight targets. Two adolescents presented to A&E with psychiatric symptoms, were referred to Child and Adolescent Mental Health (CAMH), but fortunately came to our attention and were diagnosed with thyroid disorders.Case 1: Fifteen-year-old boy presented with a two week history of disturbing auditory hallucinations and was referred to CAMH. He was commenced on antipsychotic medi...

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ea0023p38 | (1) | BSPED2009

Management of central diabetes insipidus in a paediatric intensive care unit

Babiker Amir , Acerini Carlo , Tasker Robert

Background: Central diabetes insipidus (CDI) is rare in infants and children. Up to 30 percent of cases are idiopathic and its clinical presentation is poorly defined. In critically ill paediatric intensive care unit (PICU) patient with CDI, there is increased risk of brain damage and death due to severe hyperosmolarity, hypovolaemic shock, hypernatraemic seizures or complications of treatment.Aim: To assess the causes, management and outcome of CDI in p...

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37th Meeting of the British Society for Paediatric Endocrinology and Diabetes

BiosciAbstracts