Searchable abstracts of presentations at key conferences in endocrinology
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41st Meeting of the British Society for Paediatric Endocrinology and Diabetes

ea0033p1 | (1) | BSPED2013

Plasma cortisol levels and adrenal weight in cases of death in childhood

Morrison R. , Khan J , Galloway P , McNeilly J , Penman D , Ahmed S F

Introduction: The incidence of adrenal insufficiency in cases of unexplained death in young children is unclear. It is also unclear whether there is a relationship between adrenal size and plasma cortisol concentration.Methods: All post-mortem (PM) reports of sudden deaths in children in the West of Scotland between 2010 and 2012 were retrospectively analysed. Combined adrenal weight (g) was recorded and expressed as the percentage of total body weight (...

ea0033p2 | (1) | BSPED2013

A descriptive analysis and prevalence of congenital adrenal hyperplasia in Sri Lankan children

Jayasena Arundathi , Gunawardena Nalika , de Silva Shamya

Introduction: Congenital adrenal hyperplasia (CAH) is autosomal recessively inherited with a world-wide incidence of 1:10 000–1:20 000 births.Objectives: To document the prevalence of clinically diagnosed CAH and describe the spectrum of the condition in Sri Lankan children.Method: Request letters were sent to all paediatricians in state-sector hospitals to report details of children <16 years with CAH under their care. St...

ea0033p3 | (1) | BSPED2013

Diagnosing congenital adrenal hyperplasia. Radiologist rather than biochemist.

Schenk Daniel , Cheetham Tim

Introduction: The male child with congenital adrenal hyperplasia (CAH) due to 21 hydroxylase deficiency classically presents with salt-wasting and the female with genital ambiguity. 17-OHP measurement is a key investigation but the assay takes time to perform and is not usually available at weekends. We have examined the role of renal/adrenal ultrasonography in the above clinical scenarios.Method: An abdominal ultrasound focussing on adrenal anatomy was ...

ea0033p4 | (1) | BSPED2013

Subnormal Synacthen testing in infants <6 months age: a review of diagnoses and outcomes

Tan Timothy Shao Ern , Chidanandaswamy Rajesh , Ivison Fiona , Skae Mars , Padidela Raja , Ehtisham Sarah , Clayton Peter , Banerjee Indi , Patel Leena

Background: The standard dose Synacthen test (SDST) is commonly used to identify glucocorticoid deficiency. A subnormal SDST in young infants raises the possibility of adrenal insufficiency (AI) due to pathology such as congenital adrenal hyperplasia (CAH). A physiological delay in maturation of adrenal glucocorticoid secretion may be another explanation especially in asymptomatic infants with a transiently subnormal SDST.Aims: To review the diagnoses an...

ea0033p5 | (1) | BSPED2013

Primary glucocorticoid deficiency presenting as cholestatic jaundice in a neonate

Hira Manjusha , Wahid Amar , Nanduri Vasanta

Introduction: We report the case of a term neonate born with dark skin to Caucasian parents, who presented with severe hypoglycaemia on the postnatal ward. He went on to develop prolonged cholestatic jaundice, hypertransaminasaemia, pale stool and hepatosplenomegaly.Case report: Thorough investigation led to a diagnosis of primary glucocorticoid deficiency. Hydrocortisone replacement therapy resulted in resolution of the cholestasis, improvement in liver...

ea0033p6 | (1) | BSPED2013

Severe 21-hydroxylase deficiency congenital adrenal hyperplasia and congenital hypothyroidism due to thyroglobulin mutations in a single family: two distinct genetic disorders with phenotypic variability within a single family

Ponmani Caroline , Schoenmakers Nadia , Rumsby Gill , Nicholas Adeline K , Chatterjee Krishna , Dattani Mehul

Background: 21-Hydroxylase deficiency due to mutations in CYP21A2 represents the commonest form of congenital adrenal hyperplasia (CAH). Dyshormonogenetic congenital hypothyroidism (CH) may be due to TPO, TG, DUOX2, DUOXA2, IYD, SLC5A5 and SLC26A4 mutations.Case report: Two of six children born to unrelated parents presented in the neonatal period with salt-losing CAH due to compound heterozygosity in CYP21A2 (maternal...

ea0033p7 | (1) | BSPED2013

Audit on the characteristics and management of patients in a large tertiary hospital paediatric adrenal clinic

Knox Ailie , Ehtisham Sarah , Clayton Peter , Jones Julie , O'Shea Elaine , Patel Leena , Skae Mars , Banerjee Indie , Padidela Raja

Adrenal insufficiency (Adr-I) and congenital adrenal hyperplasia (CAH) are important conditions requiring specialist attention and management. Recent CAH genotype–phenotype studies have linked mutations with enzyme functioning and disease severity. Accurate diagnosis for the cause of adrenal insufficiency and the genetic cause of CAH is vital as it impacts management and prognosis.Methods: We audited patients with Adr-I and CAH seen in outpatients f...

ea0033p8 | (1) | BSPED2013

Reliability of diagnostic tests for paediatric Cushing's syndrome

Guemes Maria , Murray Phil , Brain Caroline , Peters Catherine , Spoudeas Helen , Hindmarsh Peter , Dattani Mehul

Introduction: Cushing’s syndrome is a rare and life-threatening paediatric disease, the diagnosis of which can be challenging given its heterogeneous clinical presentation and the investigation results which are frequently inconclusive.Aim: To assess the reliability of the tests used for screening and for establishing the aetiology of Cushing’s syndrome.Design: We conducted a retrospective study analyzing cases of Cushing...

ea0033p9 | (1) | BSPED2013

Enzyme-replacement therapy in life-threatening perinatal hypophosphatasia in a premature infant

Padidela Raja , Yates Robert , Chan Elaine , Mughal Zulf

Hypophosphatasia (HP) is a rare inborn error of metabolism resulting from inactivating mutations in the gene for the tissue-nonspecific isozyme of alkaline phosphatase (TNSALP). Deficiency of alkaline phosphatase (ALK) activity leads to severe rickets. The perinatal form presents with extreme skeletal hypomineralisation at birth, and was a fatal condition until recently. We describe an 11-month-old infant who is one of the few surviving cases of a preterm infant with ...

ea0033p10 | (1) | BSPED2013

Case report: a novel PHEX mutation in a female with X-linked hypo-phosphataemic rickets

Phillips Julia , Hulse Anthony , Ellard Sian , Moye Victoria

Introduction: X-linked hypo-phosphataemic rickets is characterized by hypophosphataemia, vitamin D deficiency, poor bone and dental mineralization. Mutations occur within the PHEX gene. Currently 329 mutations have been sequenced1. We report a novel PHEX mutation in a female with hypophosphataemic rickets.Case report: A 12-year-old girl presented with, genu varum, short stature and a previous dental abscess. Investigatons showed hypophosphatae...

ea0033p11 | (1) | BSPED2013

Succesfully modified intermittent i.v. calcium treatment in a patient with hereditary vitamin D resistant rickets with alopecia: presence of nonsense mutation in ligand binding domain of vitamin D receptor

Ersoy Betul , Kiremitci Seniha , Kitanaka Sachiko

Hereditary vitamin D-resistant rickets (HVDRR) is a rare recessive genetic disorder caused by mutations in the VDR that result in end organ resistance to 1,25-(OH)2D3 action. Here, we describe a patient with HVDDR with severe alopecia and rickets. Patient was 3 years old male presenting with gait disorder. He had hypocalcemia (8 mg/dl), secondary hyperparathyroidism (1232 pg/ml), and elevated serum alkaline phosphatase (661 U/l) and 1,25-dihydroxyvitamin ...

ea0033p12 | (1) | BSPED2013

Brown tumours caused by severe vitamin D deficiency: a report of two cases

Ayuk Loveline , Hogler Wolfgang , Shaw Nick

Brown tumours are benign osteolytic lesions of bone caused by high levels of serum parathyroid hormone (PTH). They are now rarely seen as a feature of primary hyperparathyroidism. We report two cases of brown tumour in adolescent girls caused by secondary hyperparathyroidism due to severe vitamin D and dietary calcium deficiency.Case 1: 14.5-year-old South Asian girl referred with a 1 year history of right hip pain. She had presented to the orthopaedic t...

ea0033p13 | (1) | BSPED2013

In unexplained hypoglycaemia, is the presence of ketones (betahydroxybutyrate) a reliable indicator that insulin is suppressed, excluding hyperinsulinism and avoiding the need to assay insulin directly

Sabbagh Raghad , Wright Neil , Scott Camilla

Introduction: In the majority of patients presenting to A&E with hypoglycaemia it is secondary to infection or stress and individuals exhibit a ketogenic response. A minority who first present with hypoglycaemia may have endocrine or metabolic disorders. For this reason a full ‘hypoglycaemia screen’ is undertaken. It is recommended by metbionet that before glucose administration, the following are measured: intermediary metabolites (glucose, b-OHB, free fatty aci...

ea0033p14 | (1) | BSPED2013

Design and validation of a severity scale for use in congenital hyperinsulinism

Most Jessica , Mohamed Zainab , Avatapalle Hima Bindu , Ehtisham Sarah , Foster Peter , Stevens Adam , Cosgrove Karen E , Dunne Mark J , Banerjee Indraneel , Clayton Peter E

Introduction: Congenital hyperinsulinism (CHI) is an important cause of hypoglycaemia in infancy requiring intensive medical and surgical support. Carbohydrate requirement (CHO) represents a simple index of severity but does not predict the failure of medical treatment and hence the requirement for pancreatectomy.Aims: To design and validate a severity tool for use in early onset CHI patients.Methods: To design the Manchester CHI s...

ea0033p15 | (1) | BSPED2013

18F-DOPA PET MRI as a new imaging modality for the precise localisation of focal congenital hyperinsulinism

Senniappan Senthil , Shah Pratik , du Preez Marguerite , Endozo Raymond , O'Meara Celia , Townsend Caroline , Gilbert Clare , Morgan Kate , Hinchey Louise , Pierro Agostino , Biassoni Lorenzo , Olsen Oystein , Bomanji Jamshed , Hussain Khalid

Introduction: Congenital hyperinsulinism (CHI) includes two major histological subtypes; diffuse and focal. Fluorine-18-L dihydroxyphenylalanine positron emission tomography (18F-DOPA PET/CT) has been established as a novel imagining technique to differentiate focal from diffuse CHI. However CT provides only limited soft tissue contrast and exposes the patient to a significant radiation dose. PET/MRI could provide images with an excellent soft tissue contrast, very ...

ea0033p16 | (1) | BSPED2013

Increasing weight in children with congenital hyperinsulinism is linked to KATP channel gene mutations

Mohamed Zainaba , Chidanandaswamy Rajesh , Swancott Abigail , Steele Caroline , Murray Philip , Rigby Lindsey , Padidela Raja , Ehtisham Sarah , Skae Mars , Patel Leena , Ellard Sian , Didi Mohammed , Cosgrove Karen E , Dunne Mark , Banerjee Indi , Clayton Peter

Introduction: Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia due to insulin over-secretion. The medical management of CHI involves supplementary glucose, which combined with insulin excess, may be obesogenic. However, increased weight in CHI patients has not been reported. We have investigated if children with CHI increase in weight and if genetic or treatment factors influence the weight trajectory.Methods: Weights were measured and...

ea0033p17 | (1) | BSPED2013

Frequency of focal and diffuse congenital hyperinsulinism with paternally inherited mutations in ABCC8 and KCNJ11

Gopal Jaya Sujatha , Mohamed Zainaba , Padidela Raja , Patel Leena , Skae Mars , Didi Mohammed , James Jackie , Caine Louise , Rigby Lindsey , Cosgrove Karen E , Dunne Mark , Ellard Sian , Banerjee Indi , Clayton Peter

Introduction: Congenital hyperinsulinism (CHI) causes severe hypoglycaemia, which can be either focal or diffuse in aetiology. Both forms are associated with paternally inherited mutations in ABCC8/KCNJ11. Lymphocytic DNA analysis alone is inadequate to diagnose focal CHI, as pancreatic maternal allelic silencing cannot be tested prior to surgery. Additional 18-fluorodopa PET–CT scanning (PET–CT) is required for definitive diagnosis; in this study, ...

ea0033p18 | (1) | BSPED2013

Altered plasma incretin concentrations in patients with non-typical forms of congenital hyperinsulinism

Shi Yanqin , Avatapalle Hima B , Skae Mars S , Padidela Raja , Newbould Melanie , Rigby Lindsey , Flanagan Sarah E , Ellard Sian , Rahier Jacques , Clayton Peter E , Banerjee Indraneel , Dunne Mark J , Cosgrove Karen E

Introduction: Congenital hyperinsulinism (CHI) may arise due to loss-of-function mutations in ABCC8 and KCNJ11 genes which encode subunits of ATP-sensitive potassium (KATP) channels. KATP channels couple nutrient metabolism with insulin secretion in pancreatic β-cells but are also located in enteroendocrine L- and K-cells and may play a role in the control of GLP-1 and GIP secretion respectively. More than 70% of patients with CHI h...

ea0033p19 | (1) | BSPED2013

6-Mercaptopurine linked with hyperinsulinaemic hypoglycaemia in two children with acute lymphoblastic leukaemia

Wei Christina , Simmons Andrea , Tunstall Oliver , Burren Christine P

Introduction: Hypoglycaemia is a rare side-effect of 6-mercaptopurine (6MP) with unclear mechanism(s). The occurrence of hyperinsulinism accompanying the hypoglycaemia is reported here for the first time in children on 6MP for acute lymphoblastic leukaemia (ALL).Case1: Caucasian female, diagnosed with ALL aged 4 years, was treated under UKALL2003 regime A. During an admission for neutropaenic sepsis, asymptomatic hypoglycaemia was noted pre-breakfast for...

ea0033p20 | (1) | BSPED2013

18F-DOPA PET and enhanced CT imaging for congenital hyperinsulinism: Our experience of using oral sedation

Shah Pratik , Senniappan Senthil , du Preez Marguerite , Endozo Raymond , Townsend Caroline , Gilbert Clare , Morgan Kate , Hinchey Louise , Pierro Agostino , Biassoni Lorenzo , Olsen Oystein , Bomanji Jamshed , Hussain Khalid

Introduction: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in infants and children. Histologically there are two subgroups, diffuse and focal. Fluorine-18-L dihydroxyphenylalanine positron emission tomography (18F-DOPA PET/CT) helps to differentiate focal from diffuse CHI.Objective and hypotheses: To evaluate the feasibility of using 18F-DOPA PET/CT for the diagnosis of focal or diffuse CHI u...

ea0033p21 | (1) | BSPED2013

Long-term endocrine and exocrine outcome of medically unresponsive diffuse congenital hyperinsulinism managed with near-total pancreatectomy: 18 years' experience

Arya Ved Bhushan , Alam Syeda , Senniappan Senthil , Flanagan Sarah E , Ellard Sian , Hussain Khalid

Introduction: Diffuse congenital hyperinsulinism (CHI) is a major cause of severe hypoglycaemia. One treatment option is near-total pancreatectomy, which carries a risk of diabetes mellitus (DM) and pancreatic exocrine insufficiency.Objective: We report our centre’s experience on 36 consecutive medically unresponsive diffuse CHI children managed with near-total pancreatectomy.Methods: Following near-total pancreatectomy, these...

ea0033p22 | (1) | BSPED2013

Evaluation of Postprandial Hyperinsulinaemic Hypoglycemia in Children

Melikyan Maria , Senniappan Senthil , Hussain Khalid

Introduction: Hyperinsulinaemic hypoglycaemia (HH) is characterized by dysregulated insulin secretion and is typically associated with reduced fasting tolerance. We aimed to evaluate the clinical and biochemical characteristics of children presenting with postprandial hyperinsulinaemic hypoglycemia.Methods: Retrospective data collection on children who presented with symptomatic postprandial hypoglycaemia. Children with postprandial hypoglycaemia seconda...

ea0033p23 | (1) | BSPED2013

Can we prevent hypoglycaemic brain injuries in term babies with no risk factors of Hyperinsulinaemic Hypoglycaemia?

Gilbert Clare , Morgan Kate , Hinchey Louise , Shah Pratik , Kumaran Anitha , Hussain Khalid

Introduction: Hyperinsulinaemic hypoglycemia (HH) represents the most common cause of hyperinsulinism in neonates, often termed as congenital hyperinsulinism of infancy (CHI). CHI is characterised by inappropriate raised insulin secretion from the pancreatic β-cells in relation to blood glucose concentration. Insulin suppresses NEFA and BOHB production. Neurological damage is a known risk associated with hyperinsulinaemic hypoglycaemia (HH).Aim: To ...

ea0033p24 | (1) | BSPED2013

Normoammonaemic Protein Sensitive Hyperinsulinaemic Hypoglycaemia: ? A novel syndrome

Arya Ved Bhushan , Heslegrave Amanda , Shah Pratik , Gilbert Clare , Morgan Kate , Hinchey Louise , Flanagan Sarah E. , Ellard Sian , Hussain Khalid

Introduction: Hyperinsulinaemic hypoglycaemia (HH), characterized by unregulated insulin secretion from pancreatic β-cells, is an important cause of hypoglycaemia in children. Mutations in the KATP channel genes (ABCC8/KCNJ11) are the most common cause of congenital HH. The second common cause, hyperinsulinism hyperammonaemia (HIHA) syndrome caused by mutations in GLUD1 gene, is associated with elevated serum ammonia and protein sensitivity. W...

ea0033p25 | (1) | BSPED2013

Gene expression profiling reveals possible role of growth factors in beta cell hyperplasia in congenital hyperinsulinism

Senniappan Senthil , Hindmarsh Peter , Hussain Khalid

Introduction: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, HNF4A, UCP2 and HNF1A are known to cause CHI. There are two histological subtypes of CHI: diffuse and focal. Apart from the functional channel defect, β-cell hyperplasia has been observed in diffuse CHI. We aimed to understand the gene expression pattern in pancreatic tissue of patients with diffuse CHI when compared to normal cont...

ea0033p26 | (1) | BSPED2013

Screening for Coeliac disease in children diagnosed with diabetes mellitus

Jayaraman Rajesh , Waldon Karen

Background: Coeliac disease has higher prevalence in children with diabetes mellitus than in the general population, and can have significant impact on quality of life causing faltering growth, prolonged fatigue and recurrent abdominal pain.Objective: To compare current practice in screening for coeliac disease in children with diabetes mellitus with recommended standards and to investigate the value of follow-up screening for coeliac disease in children...

ea0033p27 | (1) | BSPED2013

Are paediatric patients attending their annual diabetic retinopathy screening?

Rogan Alice , Li Lisa , Kumar Rajesh

Background: Glycaemic control and duration of diabetes mellitus play an important role in delaying or preventing diabetic retinopathy. NICE guidelines state that for type 1 diabetes, those aged 12 years and over must be offered annual retinopathy screening. This audit aims to assess compliance with the guidelines and the prevalence of retinopathy.Methods: This was a retrospective audit of paediatric diabetic patients registered to Good Hope Hospital atte...

ea0033p28 | (1) | BSPED2013

Resurgence of Lipoatrophy as a complication of treatment with insulin

Anuar Azriyanti , London Rosemary , Edge Julie , Makaya Tafadzwa

Background: Lipoatrophy (LA) was commonly associated with insulin use prior to the development of purified insulin in the 1970’s, and then has virtually disappeared. In the last few years, however reports of LA among patients using analogue insulin preparations have increased. We report a case series of 4 patients from a tertiary paediatric diabetes unit presenting with LA while on treatment with analogue insulin via a continuous s.c. insulin infusion pump (CSII).<p c...

ea0033p29 | (1) | BSPED2013

Prevalence and screening of thyroid and coeliac disease in type 1 diabetes mellitus

Arkush Leo , Williams Emma , Hakeem Vaseem

Introduction: Children with type 1 diabetes mellitus are at increased risk of autoimmune thyroid and coeliac disease. Reported prevalence figures for thyroid and coeliac disease in this population has been reported in European studies as 3–8%1 and 1–10%2 respectively. Current NICE guidelines (June 2009) recommend screening for both conditions at diagnosis, and then screening annually for thyroid disease thereafter. We aimed to: i) estimate preva...

ea0033p30 | (1) | BSPED2013

GAD and IA2 autoantibody positivity is associated with a requirement for insulin treatment: results of the UK national paediatric type 2 diabetes cohort

Gray Zoe , Ilsley Emma , Cotter Catherine , Makusha Lydiah , Ford Anna , Turner Kelly , Heywood James , Chandler Kyla , Bingley Polly , Barnett Anthony , Dunger David , Hamilton-Shield Julian , Wales Jeremy , Barrett Timothy

Objectives: To establish the frequency of islet cell autoimmunity in children with a clinical diagnosis of type 2 diabetes (T2DM) and describe associated clinical and laboratory findings.Methods: We recruited children with paediatrician diagnosis of T2DM and body mass index (BMI) above 85th centile for age and sex. Patients with other confirmed diagnoses such as monogenic and type 1 diabetes (T1DM) were excluded. Clinical data was collected into a nation...

ea0033p31 | (1) | BSPED2013

Growth and metabolic control in children and adolescents with type 1 diabetes mellitus associated with other autoimmune diseases

Soni Astha , Shaw Emily Jayne , Natarajan Anuja , Ng Sze May

Aim: To study the effect of type 1 diabetes mellitus (T1DM) and concurrent autoimmune condition (AI) on long term glycemic control and growth in children.Methods: Twenty-eight children with T1DM and associated autoimmune condition were matched by sex and age at onset with two controls each. HbA1C, height SDS, weight SDS and BMI SDS were measured between 6 months and 5 years after developing T1DM.Results: We included 28 children wit...

ea0033p32 | (1) | BSPED2013

Diabetes mellitus related to Williams syndrome: first report of childhood onset

Lucaccioni Laura , Shaikh Guftar M , Craigie Ian , Giacomozzi Claudio

Introduction: Williams syndrome (WS) is a multi-systemic disorder caused by a deletion in the region 7q11.23. Childhood endocrine follow-up is mainly aimed to monitor hypercalcemia and thyroid function. A high prevalence (63–71%) of impaired glucose tolerance (IGT) and diabetes mellitus (DM) in young adults with WS is reported. WS guidelines recommend Oral Glucose Tolerance Test (OGTT) starting from 30 years of age. We demonstrate evidence of IGT and DM in WS at a much ea...

ea0033p33 | (1) | BSPED2013

Transition of young people with diabetes: 3 years experience in a single centre

Balasubrahmanyam Vani , Hopper Neil

Background: Transitioning of children with chronic illnesses into adult services is a major challenge. The diabetes transition process in our unit was being redesigned and this audit was performed to provide a historical benchmark relating to the previous setup. During the audit period, young people had a joint appointment in the paediatric service with an adult nurse specialist and then were referred by letter to the adult diabetes team.Aim: We collecte...

ea0033p34 | (1) | BSPED2013

Reduced acute complications, improved glycaemic control and reported quality of life in young diabetic patients on continuous s.c. insulin infusion (CSII)

Kendall Deborah , Aravamudhan Avinash , Khandwala Zahoor , McDonald Elaine , Ayoola Omolola

Objectives: The use of CSII in very young diabetic children was initially limited. The criteria for continued use are better long term glycaemic control and reduced hypoglycaemia episodes. The objective of this study was to evaluate the benefits of CSII on glycaemic control, acute complications and quality of life of diabetic patients.Methods: Retrospective analyses of data from patients with type 1 diabetes from our database that were started on CSII fr...

ea0033p35 | (1) | BSPED2013

Tired, tachycardic, toxaemic, teenagers: fluids in severe DKA

Frerichs Carley , Davies Patrick , Alurkar Shri , Randell Tabitha , Denvir Louise

DKA guidelines aim to reduce risk of cerebral oedema. We present the outcomes of three young females with severe DKA with reduced conscious level at diagnosis that required deviation from these guidelines.A. 12-year-old, pH 6.88 with DKA and sepsis. Received 20 ml/kg initial fluid bolus. CT head scan was normal. Hypotension required further fluid boluses, inotropes and an increase in fluids to 65% above the rate on DKA protocol. Although slow to wake aft...

ea0033p36 | (1) | BSPED2013

Insulin pumps for adolescents and young people; main problems observed in Macclesfield: United Kingdom

Alsaffar Hussain , Chandrasekaran Surendran

Introduction: Continuous s.c. insulin infusion delivered via insulin pump has enabled patients with diabetes mellitus type 1 to improve metabolic control and lead healthier lives1. However some patients are experiencing problems with their pumps.Aim and methods: A service review was carried out to look at the incidence of pump related problems using an online questionnaire survey.Results: The response rate was 85% for th...

ea0033p37 | (1) | BSPED2013

Insulin pumps for adolescents and young people improve their quality of life

Alsaffar Hussain , Chandrasekaran Surendran

Introduction: The study aimed to review the service provided for children and young people with type 1 diabetes mellitus focusing on their quality of life (QoL) before and after commencing insulin pump therapy.Methods: An online survey using survey monkey was carried out. Each questionnaire had 10 questions and it was filled by either patients or their parents based on the age group.Results: Forty-two patients are currently on insu...

ea0033p38 | (1) | BSPED2013

Three Families with Diabetes Mellitus and Sensorineural Deafness

Sherif Maha Mohamed , Hadeed Ibtisam , Arya Ved Bhushan , Dattani Mehul , Hussain Khalid

Background: Diabetes mellitus (DM) is one of the commonest chronic disorders of children, and Type 1 DM is the most frequent form of diabetes in children. Rarely DM is associated with other systemic features. DM and sensorineural deafness (SD) are features of rare syndromes like Wolfram syndrome, Rogers syndrome and Mitochondrial DM. Wolfram syndrome (also known as DIDMOAD syndrome) is caused by los of function mutations in the WFS1 gene and the clinical features incl...

ea0033p39 | (1) | BSPED2013

Extreme hyperlipidaemia with poor glycaemic control in type 1 diabetes

Drew Samantha , Margetts Rebecca , Amin Rakesh , Hindmarsh Peter , Banerjee Kausik , Peters Catherine

Background: Poorly controlled diabetes is associated with dyslipidaemia including high cholesterol and LDL concentrations. This increases the long term risk of atherosclerosis and cardiovascular complications. In children and young people with type 1 diabetes, management with lipid lowering agents is controversial and to date long term evidence of benefit is limited. We report a case of severe dyslipidaemia and the impact of improvement in glycaemic control.<p class="abste...

ea0033p40 | (1) | BSPED2013

Sensor augmented insulin pump therapy in children with steroid induced diabetes (SID)

Abdullah Nadeem , Rafiq Anjum , Pesterfield Claire , Slegtenhorst Sonja

Steroids are commonly used to treat many chronic illnesses and as part of chemotherapy regimen in children. The hyperglycaemia caused by steroids is poorly recognised and can lead to adverse outcomes. Early recognition and appropriate management of hyperglycaemia is therefore crucial. Fasting blood glucose (BG) levels can be normal and the most sensitive time to test BG is 2 h after lunch.Steroids may also result in secondary adrenocortical insufficiency...

ea0033p41 | (1) | BSPED2013

How to manage steroid induced diabetes in children

Abdullah Nadeem , Hyde John , Rafiq Anjum , Wilson Kate , Acerini Carlo

There are no established guidelines on the management of steroid induced diabetes (SID) in children. Steroids are commonly used to treat many chronic illnesses and as part of chemotherapy regimen in children. The hyperglycaemia caused by steroids is poorly recognised and can lead to adverse outcomes. Early recognition and appropriate management of hyperglycaemia is therefore crucial. Fasting blood glucose (BG) levels can be normal and the most sensitive time to test BG is 2 h ...

ea0033p42 | (1) | BSPED2013

‘A retrospective audit to observe the effect of the use of bolus calculators and carbohydrate counting have on blood glucose control in children and young people with type 1 diabetes'

Wasserfall Megan

Automated Bolus Calculators (ABC) were introduced into two inner city hospitals with a high deprivation index in August 2010.Objective: To observe the change in HbA1c for 3–6 months after the introduction of ABC and carbohydrate counting. Also to explore the effects of age, gender, psycho-social circumstances on HbA1c as well as the uptake of insulin pump therapy after implementation.Method: ABC were offered to all families wh...

ea0033p43 | (1) | BSPED2013

Challenges in Meeting Best Practice Guidelines at a District General Hospital in Yorkshire: a review of the changes that need to be made and the financial implications

Martin Sarah

Introduction: It was recognised there was a need to improve the current diabetes service provision at a District General Hospital in Yorkshire to meet the payment by results (PBR) best practice tariff. This tariff is based on recommendations by NICE, the Department for Health and the regional tertiary centre.Objective: The main change to be implemented by this district general hospital was the creation of a 24 h diabetes service staffed by trained profes...

ea0033p44 | (1) | BSPED2013

Mealtime insulin carbohydrate ratios and intensive insulin therapy

Kershaw Melanie , Jones Simon , Krone Ruth E , Krone Nils , Shaw Nicholas , Kirk Jeremy , Drummond Lesley , Barrett Timothy

Background: Our practice is to commence newly diagnosed children and young people (CYP) with diabetes, over 5 years old, on multiple daily insulin (MDI), using fixed Insulin to Carbohydrate ratios (ICRs) with meals across the day. ICRs are subsequently adjusted according to blood glucose response, individualising insulin treatment. We know intensified insulin therapy includes use of varied ICRs, reflecting varying insulin sensitivity at different times of day. We do not know w...

ea0033p45 | (1) | BSPED2013

Local factors influencing service improvements in median HbA1c in children and young people with diabetes between 2003 and 2012

Kershaw Melanie , Krone Ruth E , Krone Nils , Hogler Wolfgang , Shaw Nicholas , Kirk Jeremy , Barrett Timothy

Background: HbA1c is a marker for the risk of long-term complications of Diabetes. Our unit cares for 349 children and young people (CYP) from a population with a higher than average prevalence of low-income families, ethnic minority families, and high unemployment. Over the last 10 years there have been service improvements, increased resources and changes in practice.Aims: To review HbA1c outcomes achieved annually from 2003, compared with published na...

ea0033p46 | (1) | BSPED2013

‘Bridging The Gap’: improving glycaemic control for children of African descent in London

Pichierri Jennifer , Hindmarsh Peter

Children and adolescents with type 1 diabetes treated at University College Hospital London (UCLH) from an African background have poorer glycaemic control compared to the British population (British mean HbA1c 7.8 (0.1), African mean HbA1c 9.4 (0.5) P<0.001).Haemoglobin A1c is an element of the haemoglobin to which glucose is bound. The ideal range is between 6.5 and 7.5% and is considered to represent good glycaemic control. Patients who p...

ea0033p47 | (1) | BSPED2013

Factitious hypoglycaemia due to exogenous insulin ‘Don’t forget the skin’

Choudhary Deepak , Agwu J Chizo , Bandhakavi Meena , Makwana Niten

Introduction: Serum C Peptide is traditionally used to diagnose factitious Hypoglycaemia due to exogenous Insulin. However in our case we were able to initiate child protection work up on the basis of skin marks which were noted during child’s admission in hospital.Case report: 2-year-old male presented with 3 days history of diarrhoea and vomiting. Past history and examination were unremarkable. Mother had gestational diabetes and was on insulin du...

ea0033p48 | (1) | BSPED2013

Development of a next generation sequencing panel for disorders of sex development (DSDs)

Hughes Lowri , Cole Trevor , Krone Nils , Allen Stephanie , Fews Graham , MacDonald Fiona

Disorders of sex development (DSDs) refer to a range of congenital disorders where the chromosomal, gonadal or anatomical sex is atypical. Patients typically present in the newborn period where ambiguous genitalia often prevents immediate gender assignment or during the adolescent period where atypical sexual development becomes apparent. Genetic testing is key in establishing the diagnosis allowing for personalised management of these patients, and can significantly reduce th...

ea0033p49 | (1) | BSPED2013

Precious puberty in an infant is not normal

Lamabadusuriya Harshan , Wolfenden Helen , Makaya Taffy , Wheeler Kate , Ryan Fiona

Background: A 5-month-old girl presented with a history of acute abdominal distension over several weeks. Three weeks previously she had developed pubic hair, and some early breast development. The GP had reassured parents on two occasions that this was normal. On examination she had Tanner breast stage 3 bilaterally, pubic hair stage 3, mild cliteromegaly, and gross abdominal distension.Investigations: An ultrasound scan revealed a massively enlarged ri...

ea0033p50 | (1) | BSPED2013

Early puberty in two girls with Prader–Willi syndrome

Narayanan Vidya K , Barrett Tim , McCrea Kathryn , Gopalakrishna Anil , Kirk Jeremy

Introduction: Prader–Willi syndrome (PWS) is characterised by hypotonia, obesity, short stature, and hypogonadism probably due to hypothalamic dysfunction (hypogonadotropic hypogonadism (HH)). Exaggerated adrenarche is however commonly noted in these patients. Early puberty is rarely described: we report two girls with PWS diagnosed with premature sexual maturation.Case reports: Case 1: this 8-year-old girl was neonatally diagnosed with PWS (materna...

ea0033p51 | (1) | BSPED2013

NR5A1 Mutation – A Rare Cause of Pubertal Androgenisation

Amin Nadia , Balen Adam , Hughes Ieuan , Phillott Sally , Alvi Sabah

Introduction: Steroidogenic factor-1 (SF-1) is encoded by the NR5A1 gene on chromosome nine and is a nuclear receptor involved in adrenal and gonadal development and differentiation. There is wide phenotypic variation in individuals with NR5A1 mutations, but little is known about the natural course of patients during puberty. This study reports the case of a phenotypical female who showed profound virilisation at puberty due to a mutation in the NR5A1 gene.<p class="abstex...

ea0033p52 | (1) | BSPED2013

46,XX pure gonadal dysgenesis with tall stature due to an Xq21.2 deletion

Narayanan Vidya K , Tolmie John , Donaldson Malcolm

Introduction: 46,XX gonadal dysgenesis without the phenotype of Turner’s syndrome is described as ‘pure’ and is not usually associated with other anomalies with the exception of the rare Perrault syndrome (46,XX-GD with sensori-neural deafness). We describe a girl in whom tall stature was a dominant feature.Case report: A girl was referred aged 15.6 years with primary amenorrhoea and slim build. Examination showed height 172.5 cm (+1.56 <s...

ea0033p53 | (1) | BSPED2013

Rapid molecular genetic diagnosis aiding personalised treatment of 5-α reductase type 2 deficiency

Kumaran Anitha , Parajes Silvia , Cole Trevor R , Hogler Wolfgang , Kirk Jeremy , Krone Nils

Introduction: Steroid 5-α reductase type 2 deficiency causes 46,XY disorder of sex development (DSD) and is an autosomal recessive disorder resulting from mutations in the SRD5A2 gene. SRD5A2 facilitates the conversion of testosterone to dihydrotestosterone (DHT), crucially required for masculinisation of external genitalia. Thus 46,XY individuals with SRD5A2 mutations present with varying severity of undermasculinisation.We descri...

ea0033p54 | (1) | BSPED2013

Causes of precocious puberty in children referred to an Endocrine Unit in the Northwest of Turkey

Kilavuz Sebile , Dilek Emine , Sut Necdet , Bezen Digdem , Tutunculer Filiz

Introduction: Although data from developed countries about precocious puberty (PP) are abundant, data from developing countries are scarce. The aim of our study was to analyze the frequency of the variants of PP in children who had applied to our department.Patients and methods: Retrospective analysis of 367 children (349 girls and 18 boys) with features of PP referred for evaluation to our clinic between the years 2006–2012 was performed.<p cla...

ea0033p55 | (1) | BSPED2013

Diagnostic spectrum of female pubertal delay

Nanjundappa Suma , Alvi N Sabah

Introduction: Delayed onset of puberty is quite a common presentation in adolescent endocrine clinics, and the most common cause, particularly in boys is considered to be constitutional delay of growth and maturation. In girls, however, it is more likely that there is a significant underlying problem.Aim: To review the aetiology of pubertal delay in female patients referred to a single tertiary centre.Methodology: All female patien...

ea0033p56 | (1) | BSPED2013

Review of the service for Turner syndrome patients at University Hospital of North Staffordshire

Zoualghina Rana , Kumbattae Umma

Management of children with Turner’s syndrome in the Paediatric Endocrine Service in the last 15 years were reviewed retrospectively. There were 19 children with age range from 2 to 16 years.The age distribution at diagnosis showed 12/19(63%) diagnosed below 1-year-old of those 5/12 (42%) were diagnosed by amniocentesis. 4/19 were diagnosed between 1 and 5 years old, only 3/19 came to medical attention after 10 years of age. Two were mosaic karyotyp...

ea0033p57 | (1) | BSPED2013

Middle ear disease in Turner syndrome: prevalence and risk factors

Lupton Kenneth , Gault Emma-Jane , Al-Hassani Sarah , Kubba Haytham , Donaldson Malcolm

Introduction: Middle ear disease in Turner syndrome (TS) is common, often resulting in troublesome temporary hearing loss, and more rarely to serious suppurative disease with cholesteatoma formation. We have examined the prevalence and pattern of middle ear disease in our TS clinic in relation to age and karyotype.Methods: Case note review of all girls with TS attending clinic 1989–2012, scoring the most serious middle ear problem for each as: none ...

ea0033p58 | (1) | BSPED2013

Exploring the culture of listening amongst children's nurses in an outpatient department: A mini-ethnographic study

O'Mullane Elaine , Roche Edna , Hamill Conal

Background: In the human communication process listening is often reduced to a passive, innate activity and often considered as ’just listening’ (Wolvin 2010). Kilkelly & Donnelly (2011) advocates the promotion of a listening culture whereby children are able to voice and have their views listened to, not only to satisfy legal requirements. Much of paediatric services today are provided in the out-patient setting.Objective: The study aimed ...

ea0033p59 | (1) | BSPED2013

Screening log data can be used to inform protocol modifications, increasing patient recrutiment to a challanging clinical trial

Blair Jo , Awoyale Lola , Thornborough Keith , Peak Matthew , Didi Mohammed , Bedson Emma , Hughes Dyfrig , Ridyard Colin , Tat Tri , Gregory John

Background: Delivery of clinical trials to time and target is critical for studies to be financially viable and relevant. Feasibility studies are informative. However, protocol acceptability and recruitment rates can only be accurately ascertained once a study is open.The SCIPI study (SubCutaneous Insulin: Pumps or Injections?), randomises patients to treatment with multiple daily injections (MDI) or pumps at diagnosis of type I diabetes (TID). A consent...

ea0033p60 | (1) | BSPED2013

Dumping syndrome an often unrecognised problem following post nissen fundoplication, gastrostomy in infants

Kalaivanan Prabhakaran , Spowart Karen , Bridges Nicola , Alexander Saji

Background: Dumping syndrome in infants who have undergone gastrostomy or Nissens fundoplication is a recognised phenomenon. The pathogenesis is possibly due to a bolus feed causing an incretin effect and leading to hyperinsulinaemic hypoglycaemia. Continuous glucose monitoring (CGM) systems have not been used in the past to study this phenomenon. We report CGM findings which are almost identical on three such post surgical infants.Case series 1: a 36-we...

ea0033p61 | (1) | BSPED2013

Disease- and treatment-related factors implicated in late neuroendocrine morbidity after paediatric optic pathway gliomas: a multivariate analysis of 166 patients over 30 years

Gan Hoong-Wei , Phipps Kim , Spoudeas Helen Alexandra

Introduction: Low-grade gliomas (LGGs) are the commonest benign childhood brain tumour and typically affect the optic pathway and diencephalon, thus potentially causing serious neuroendocrine deficits from tumour and/or treatment. We have previously presented a preliminary analysis of risk factors for neuroendocrine morbidity in our 30-year cohort of LGG patients at Great Ormond Street Hospital, and now present comprehensive results of the completed dataset.<p class="abste...

ea0033p62 | (1) | BSPED2013

Audit of obesity management in a tertiary endocrine centre

Wolfenden Helen , Mayaka Tafadzwa , Ryan Fiona

Approximately 30% of children aged 2–15 years old in the UK are now either overweight or obese. There is some guidance on appropriate management within the UK for paediatricians, including a consensus statement by the Obesity Services for Children and Adolescents (OSCA) network. Obese patients referred to a tertiary paediatric endocrine clinic between January 2010 and December 2011 were audited retrospectively, with follow-up until the end of December 2012 included. Child...

ea0033p63 | (1) | BSPED2013

Serial ‘body composition' measurements will help resolve the continued weight gain dilemma in children with PWS

Rosie Ghomaissa , Navani Vishal , Smith Chris , Livesey Anne , Kanumakala Shankar

Introduction: PWS children have higher body fat content and lower lean muscle mass as compared to normal population. Bioelectrical impedance analysis (BIA) estimates lean muscle mass and total fat content separately and thus is more useful than BMI. Continued weight gain despite treatment, can be distressing to patients and parents. We hoped to resolve this dilemma through serial body composition measurements.Materials and methods: Patients and families ...

ea0033p64 | (1) | BSPED2013

Immune cell dysregulation – contributing to the risk of development of metabolic disease in childhood obesity

Carolan Eirin , Hogan Andrew , Corrigan Michelle , O'Connell Jean , Foley Niamh , O'Neill Luke , Cody Declan , O'Shea Donal

Background: Although the association between obesity, chronic low-grade inflammation and immune dysregulation is well described in adults, there is a paucity of literature regarding this in children. We hypothesized that childhood obesity is associated with significant immune dysregulation.Methods: Expression of cytokines and microRNAs (miR) involved in the pathogenesis of metabolic disease were assessed in 49 participants aged 6–18 years. Invariant...

ea0033p65 | (1) | BSPED2013

Modulation of mesenchymal stem cell differentiation by alterations in GH action and cell–matrix interaction

Wang Ruijun Jessie , Yarwood Stephen , Dalby Matthew , Ahmed Faisal

Introduction: Mesenchymal stem cells (MSCs) are a type of multipotent cells readily found within the bone marrow, capable of undergoing self-renewal and giving rise to cells with different characteristics, such as, osteoblasts, adipocytes and chondrocytes. MSC differentiation requires optimal cell–matrix interaction and is also dependent on a number of growth factors.Aim: To investigate the effect of GH, Rho-associated kinase (ROCK) and extracellula...

ea0033p66 | (1) | BSPED2013

Chronic kidney disease: an uncommon cause of galactorrhoea in an adolescent

Williams Georgina , Inward Carol , Tizzard E Jane , Burren Christine

Introduction: Hyperprolactinaemia may occur in 30% of adults with chronic kidney disease (CKD), although rare in paediatrics. The pathophysiology might be further complicated by pre-existing pituitary abnormalities.Case: Symptomatic hyperprolactinaemia developed in this adolescent girl with CKD and hypopituitarism. History involved neonatal hypoxic ischaemic encephalopathy (HIE) and renal cortical necrosis. CKD Stage 3 ensued. Growth declined by 2.3 year...

ea0033p67 | (1) | BSPED2013

Effect of latitude, summer daylight exposure and genetic background on growth response to recombinant human GH in GH deficient patients

De Leonibus Chiara , Chatelain Pierre , Clayton Peter , Stevens Adam

Introduction: Growth rate tends to be greater in children living at higher latitudes although the underlying mechanisms are unclear. The aim of this study was to compare height velocity (HV) in response to recombinant human GH (r-hGH) therapy in children with GH deficiency (GHD) living at different latitudes.Design: Pre-pubertal children with GHD (n=118) were enrolled from the PREDICT long-term follow-up prospective study (NCT00699855). Data wer...

ea0033p68 | (1) | BSPED2013

Multiple pituitary hormone deficiencies in two patients with arthrogryposis multiplex congenita

Narayanan Vidya K , Kirk Jeremy , Hogler Wolfgang

Introduction: Arthrogryposis multiplex congenita is a rare congenital disorder characterised by multiple joint contractures. The association with hypopituitarism has only been reported once before. We report two further children with multiple pituitary hormone deficiencies (MPHD) and arthrogryposis.Case reports: Case 1: this 12-year-old girl was born to consanguineous parents; a previously affected sibling had died. She was dysmorphic with multiple joint...

ea0033p69 | (1) | BSPED2013

Congenital nasal pyriform aperture stenosis and pituitary abnormalities: case series of 20 patients and a management guideline for early identification of pituitary insufficiency

Chen Suet Ching , McDevitt Helen , Clement W Andrew , Wynne David M , Ahmed S Faisal , Shaikh M Guftar

Introduction: Congenital nasal pyriform aperture stenosis (CNPAS) is an increasingly recognised cause of upper airway obstruction associated with holoprosencephaly, of which solitary median maxillary central incisor (SMMCI) is the least severe form. Studies have described pituitary abnormalities in up to 40%. We aimed to determine the use of baseline endocrine investigations and MRI brain in assessing endocrine dysfunction.Method: Retrospective casenote ...

ea0033p70 | (1) | BSPED2013

Growth hormone device change-over; is it beneficial?

Ayuk Loveline , Casey Angela , Prior Julia , Kirk Jeremy

Recombinant growth hormone (GH) administration uses several different injection devices. Despite offering free patient choice at GH therapy start, ~20% of our patients subsequently change GH device.Objective: To investigate reasons for GH device change, and evaluate the effect on adherence, height velocity standard deviation (HVSDS), and insulin-like growth factor-1 (IGF1).Method: Retrospective study of extracted growth data and la...

ea0033p71 | (1) | BSPED2013

GH neurosecretory dysfunction may be associated with structural abnormalities of the hypothalamic–pituitary axis

Hughes Claire , Dattani Mehul

Introduction: GH neurosecretory dysfunction (NSD) refers to children with abnormal auxology, normal GH responses to provocative testing, but with impaired spontaneous GH secretion over 24 h, leading to low IGF1 concentrations. It is thought to be due to abnormal hypothalamic function with aberrant GHRH and somatostatin secretion leading to impaired GH secretion and subsequently suboptimal growth.Methods: We reviewed children admitted for spontaneous GH s...

ea0033p72 | (1) | BSPED2013

Assessment of cortisol and thyroid hormone levels in neonates with myelomeningocele

Soni Astha , Beech Gail , Blair Jo , Didi Mohammed , Das Urmi , Dharmaraj Poonam , Burn Sasha , Buxton Neil , Mallucci Conor , Benedetta Pettorini

Background: GH deficiency has been reported widely in association with myelomeningocele and other pituitary hormone deficiencies occur less frequently. Following an episode of adrenal crisis in a newborn infant with myelomeningocele and multiple pituitary hormone deficiencies we introduced a policy of screening affected, newborn infants for pituitary insufficiency, focusing on thyroid function and cortisol levels.Patients and methods: Data from 26 infant...

ea0033p73 | (1) | BSPED2013

Stopping desmopressin treatment in a child with hypopituitarism and epilepsy

Lim Sharon

Case: A 10-year-old girl with panhypopituitarism and cerebral palsy secondary to Group B streptococcal meningitis as a neonate had full hormonal replacement therapy (hydrocortisone, thyroxine, DDAVP) since infancy. GH was started at 3 years of age. Sodium levels were always stable in the high normal range. She became epileptic aged seven and was started on sodium valproate. Recurrent chest infections occurred from age eight and she became colonised with Pseudomonas an...

ea0033p74 | (1) | BSPED2013

Comparison of Glucagon vs Clonidine stimulation test to diagnose growth hormone deficiency

Punniyakodi Sadhanandham , Balapatabendi Mihirani , Shenoy Savitha

NICE guidelines (2010) recommend two different GH provocation tests demonstrating subnormal peak GH levels to diagnose isolated GH deficiency (GHD). Choice of stimulation test varies in different units. In our centre, glucagon (GST) and clonidine (CST) stimulation tests are used to make a diagnosis of IGHD. IGF1 is done as part of the initial screening tests.Purpose of this study was to compare the GST vs CST and to establish if IGF1 level provided any e...

ea0033p75 | (1) | BSPED2013

How late is too late to treat with Growth Hormone? A case study

O'Mullane Elaine , O'Connell Susan , Roche Edna , Hoey Hilary

Introduction: 13.1-year-old boy referred for growth hormone (GH) treatment with extreme short stature.Background: Born premature at 28 weeks gestation, fraternal twin, birth weight: 1.06 kg (−0.58 SDS). Neonatal course complicated by respiratory distress syndrome, grade 2 Intraventricular haemorrhage, grade 2 Retinopathy and failure to thrive. Although not born small for gestational age, he was small at term (1.67 kg (−4.18 SDS)).<p class...

ea0033p76 | (1) | BSPED2013

“Short But Not Sweet” – Panhypopituaritism in children presenting with hypoglycaemia as a recurring complication of gastroenteritis

Kintu Brett , Thalange Nandu

Background: In the human communication process listening is often reduced to a passive, innate activity and often considered as ‘just listening’ (Wolvin 2010). Kilkelly & Donnelly (2011) advocates the promotion of a listening culture whereby children are able to voice and have their views listened to, not only to satisfy legal requirements. Much of paediatric services today are provided in the out-patient setting.Objective: The study aimed ...

ea0033p77 | (1) | BSPED2013

Urinary gonadotrophins: role in assessment and management of disorders of puberty

Lucaccioni Laura , McNeilly Jane D , Mason Avril , Shaikh M Guftar , Giacomozzi Claudio , Iughetti Lorenzo , Ahmed S Faisal

Introduction: With improvements in assays and the increasing need for non-invasive, out-patient based investigations, there is a renewed interest in the use of urinary gonadotrophins (UG) for assessing pubertal progress. This study aims to establish the correlation between serum and urinary LH and FSH in patients undergoing investigation or management of pubertal disorders.Methods/design: Retrospective evaluation of eight patients undergoing investigatio...

ea0033p78 | (1) | BSPED2013

How to improve the “gold standard” – the insulin tolerance test (ITT) revisited

Daskas Nikolaos , Bowron Ann , Burren Christine , Woldersdorf Wolf , Barton John , Crowne Elizabeth

Background: The ITT has been said to be the gold standard for diagnosing GH deficiency (GHD) for 50 years. The original 0, 20, 30, 60, 90 and 120 min time points are still used in many but a survey of current UK paediatric ITT protocols identified several variations.Objective and hypotheses: To identify optimal GH sampling time points to avoid over diagnosis of GHD.Methods: Results of 502 paediatric ITTs using two different samplin...

ea0033p79 | (1) | BSPED2013

Use of prolactin concentrations in disorders of pituitary function and optic nerve hypoplasia

Narayanan Vidya K , Kumaran Anitha , Khan Seher , Hogler Wolfgang , Kirk Jeremy

Introduction: Measurement of the anterior pituitary hormone prolactin is often performed in patients with pituitary pathology. Mild hyperprolactinemia occurs in subjects with hypothalamic disorders and/or pituitary stalk dysfunction, and is also described in patients with isolated optic nerve hypoplasia (ONH), this is proposed to be due to decreased dopaminergic tone.Objective: To assess prolactin levels in patients with septo-optic dysplasia (SOD) (with...

ea0033p80 | (1) | BSPED2013

Endocrine manifestations of CHARGE syndrome

Kumaran Anitha , Kirk Jeremy

Introduction: CHARGE syndrome is a multi-organ disorder; 67% have mutations in the chromodomain gene CHD 7. Endocrine abnormalities are increasingly recognized and we report our experience in a tertiary endocrine unit.Methods/Study design: Children with CHARGE syndrome attending endocrine clinic were identified and data collected retrospectively from medical notes.Results: 31 patients (13 females) were identified. Mean age was 10.5...

ea0033p81 | (1) | BSPED2013

The role of GH in early postnatal life in mice

Gevers Evelien , Dattani Mehul

GH concentrations are high at birth but it is unclear whether and where GH signaling takes place at this time. We assessed the response to GH in young normal and GH-deficient (GHD) pups.Transgenic M2-GRF mice were significantly GHD from birth. Weight and plasma IGF1 concentration were normal, but reduced at 6–8 day of age (P<0.01). 3 and 10-day-old GHD and normal (WT) mice were treated with bovine GH (bGH, 10 μg/g bw s.c. bd) or ve...

ea0033p82 | (1) | BSPED2013

The use of Radioactive Iodine in the treatment of childhood and adolescent hyperthyroidism

Meso Muriel , Storr Helen , Allgrove Jeremy , Saccaram Sonali , Newell Margaret , Drake William

Background: Treatment options for Graves’ disease (GD) and multinodular goitre include antithyroid medication, near total thyroidectomy and radioactive iodine (RAI). RAI is an established treatment for GD in the adult population but is used less commonly in children and the adolescent population due to concerns with regards to safety.Methods: A review of a series of 14 adolescent patients receiving RAI between 2007 and 2013 in our department was per...

ea0033p83 | (1) | BSPED2013

BSPED National thyrotoxicosis study: patient characteristics and initial response to antithyroid drug therapy

Balasubrahmanyam Vani , Davidson Neil , Harle Christine , Cheetham on behalf of BSPED Tim

Introduction: The BSPED UK thyrotoxicosis study has been running for 10 years. The primary objective is to assess biochemical control on block and replace (BR) and dose titration (DT) regimens. The final patient was recruited towards the end of 2011 and study will finish in 2015. We would like to describe the baseline characteristics of study patients and the initial response to anti-thyroid drug therapy (ATD).Methods: We focused on patient age, sex, BMI...

ea0033p84 | (1) | BSPED2013

Incidence and clinical characteristics of dual thyroid ectopia in congenital hypothyroidism

Tucker Daniel , Woods Gemma , Langham Shirley , Hindmarsh Peter , Biassoni Lorenzo , Peters Catherine

Thyroid ectopia is a frequent and severe form of congenital hypothyroidism and results from failure of the process of embryonic development and migration of the thyroid gland from the pharyngeal pouch to the anterior neck with the isthmus sited at the level of the cricoid cartilage. With improved technetium scanning techniques, cases of dual foci thyroid tissue are increasingly recognised. The incidence and clinical characteristics of this group of patients has not been establ...

ea0033p85 | (1) | BSPED2013

Kocher-Debre-Semelaigne syndrome: a report of three cases

Dilek Emine , Genchellac Tugba , Bezen Digdem , Tutunculer Filiz

Introduction: Kocher-Debre-Semelaigne sndrome (KDSS) is a rare association of muscular pseudohypertrophy and long standing moderate-to-severe hypothyroidism in pediatric age group. This report decribes three cases with KDSS.Case 1: A 4-year-old girl was admitted to our department with growth failure and mental-motor retardation. She was diagnosed as primary hypothyroidism at the age of 15 days and was started on L-thyroxine but at the age ...

ea0033p86 | (1) | BSPED2013

PTEN hamartoma syndrome: unravelling the complexities of childhood screening

Katugampola Harshini , Howard Sasha , Allgrove Jeremy

Background: PTEN hamartoma tumour syndromes (PHTS) are rare autosomal dominant inherited disorders characterised by macrocephaly, multiple hamartomas and an increased risk of several cancers, including breast, thyroid and endometrium. PTEN encodes a tumour suppressor phosphatase that regulates cell survival and migration. Published guidelines are available for adult patients but screening in children is currently not standardised. Moreover, there is poor genotype-phenotype cor...

ea0033p87 | (1) | BSPED2013

Review of presentation and management of juvenile thyrotoxicosis at a single-centre between 2000 and 2010

Nanjundappa Suma , Mushtaq Talat , Alvi N Sabah

Introduction: Juvenile thyrotoxicosis is treated with anti-thyroid drugs using a block and replace or dose titration regimen. There is a high rate of relapse and majority require definitive treatment with surgical or radio-iodine ablation. Increasingly radio-iodine therapy is being used in children, particularly in the USA, but experience with this is limited in the UK. In our unit we have an experienced paediatric thyroid surgeon and we have always carried out surgery in chil...

ea0033p88 | (1) | BSPED2013

An unexpected diagnosis of follicular–variant papillary thyroid carcinoma in an 11-year-old male

Steele Caroline , Makin Guy , Mohamed Zainab , Child Frances , Padidela Raja

Introduction: Thyroid carcinoma in childhood is rare, but may present with distant metastases. We present an unexpected diagnosis of follicular–variant papillary thyroid carcinoma (FVPTC) presenting to acute services with cyanosis.Case report: An 11-year old boy presented to A&E with a two month history of cyanosis, worse with exertion, but not associated with respiratory distress or limitation of exercise tolerance. He had peripheral cyanosis, ...

ea0033p89 | (1) | BSPED2013

Low remission rates and high failure rate for medical treatment of thyrotoxicosis in childhood and adolescence: strategic implications for stopping antithyroid drugs

Al-Towati Mabrouka , McGowan Sheena , Hunter Ian , Williamson Scott , Ahmed Faisal , Donaldson Malcolm

Background: Paediatric thyrotoxicosis due Graves’ disease (GD)and Hashimoto’s thyroiditis (HT) disease is both more rare yet more severe than in adulthood. Antithyroid drug treatment (ATD) is with carbimazole or PTU either alone (dose titration (DT)) or with L-thyroxine (L-T4) – block and replace (BR).Methods: We have examined outcome of medical treatment in a cohort of patients treated from 1989 to...