Searchable abstracts of presentations at key conferences in endocrinology
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38th Meeting of the British Society for Paediatric Endocrinology and Diabetes

ea0024p1 | (1) | BSPED2010

Adverse drug reactions and corticosteroids in acute paediatric admissions

Gallagher R M , Mason J R , Bird K A , Turner M A , Smyth R L

Introduction: Adverse drug reactions (ADRs) are a significant cause of morbidity in childhood. We undertook a prospective study to investigate ADRs causing admission to a UK paediatric hospital: this report focuses on corticosteroids (CS).Methods: Three investigators assessed all acute admissions over a 1 year period and identified ADRs by cross-referencing clinical presentations to known ADR profiles using a standardised causality tool.<p class="abs...

ea0024p2 | (1) | BSPED2010

Optimization of treatment in children with 21-hydroxylase deficiency using cortisol profiling

Logan K , Peters C , Hindmarsh P , Dattani M

Introduction: A number of different parameters are used to assess adequacy of treatment in children with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hydrocortisone day curves are established practice in our unit. To determine the value of this procedure, outcomes were monitored using the European Society for Paediatric Endocrinology 2002 guidelines for the management of 21-hydroxylase deficiency.Methods: Two hourly cortisol profiles ...

ea0024p3 | (1) | BSPED2010

Pseudohypoaldosteronism Type 1 in Infants: A UK Experience

Amin N L , Barth J H , Field H P , Frazer S , Finlay E , Tyerman K , Feather S , Fitzpatrick M , Saville G , Alvi S , Mushtaq T

Background: Type 1 pseudohypoaldosteronism (PHA) is characterised by resistance to aldosterone action, resulting in salt wasting, hyperkalaemia and metabolic acidosis in the neonatal period. Type 1 PHA can be classified as Renal PHA (autosomal dominant (AD)), and the more severe Multiple target organ defect / systemic PHA (autosomal recessive (AR)). The aim of this study was to ascertain the incidence of PHA, and characterise mode of presentation, management and clinical outco...

ea0024p4 | (1) | BSPED2010

Neonatal adrenal suppression from maternal steroid use: A retrospective case note study

Ho S , Petkar R , Avatapalle B , Coombs R

Introduction: Infants born to mothers on antenatal steroid medication may develop adrenal suppression postnatally which can be potentially life-threatening. However, the incidence is unknown and screening for at risk infants is not universal.Aim: The aim of our study was to review the outcome of infants born to mothers on antenatal steroids.Method: We retrospectively reviewed our neonatal “paediatric alerts” for mothers o...

ea0024p5 | (1) | BSPED2010

A 30 years review of congenital adrenal hyperplasia in Northern Ireland

Dixon J , Carson D

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition with significant consequences if not correctly diagnosed and treated. We have reviewed the patients with CAH presenting in Northern Ireland between 1976 and 2010.Aims: To determine the age, sex and clinical features at presentation; treatment modalities including perineal surgery in childhood; and long-term outcomes including final height and surgery in adulthood.<p ...

ea0024p6 | (1) | BSPED2010

Adrenal responses to a simplified low dose short synacthen test (LDSST) in children with asthma

Platt K , Blair J , Lacy D , Peak M , Couriel J , Newland P , Dharmaraj P , Das U , Didi M , Moorcroft T

Introduction: Impairment of the hypothalamic–pituitary–adrenal (HPA) axis has been reported widely in children treated with inhaled corticosteroids (ICS). The integrity of HPA axis has been assessed using low (500 ng/1.73 m2 body surface area) and standard (250 mg) dose short synacthen tests (SST). Serum cortisol is measured at 0, 15, 20, 25, 30 and 35 min intervals in the low dose SST (LDSST) and at 0, 30 and 60 min in the standard dose SST (SDSST). The L...

ea0024p7 | (1) | BSPED2010

Glucocorticoid hypofunction in Myotonic Dystrophy

Anand G , McHale E , Ray N , McShane M A , Ryan F J

Myotonic Dystrophy is an autosomal dominant multi-system disorder characterised by muscle weakness and myotonia, with associated cardiac, ophthalmic, gastrointestinal and endocrine abnormalitiesA 16-year-old boy was referred with a 2 months history of difficulty releasing his hand-grip and problems with swallowing. The clinical diagnosis of myotonic dystrophy 1 was confirmed with genetic testing with the detection of a DMPK expansion mutation. During inv...

ea0024p8 | (1) | BSPED2010

Comparison of the low dose synacthen and glucagon stimulation tests in the assessment of adrenal function in children with short stature

Peacock A , Mushtaq T , Alvi N S , Barth J

Introduction: The 1 μg low dose short Synacthen tests (LDSST) and the glucagon stimulation tests (GST) have been suggested to be safer alternatives to the insulin induced hypoglycaemia stress test. The aim of this study was to compare the peak plasma cortisol concentration in response to a LDSST followed 60 min later by a GST in children undergoing investigation for short stature.Methods: We retrospectively studied 38 patients (19 female, 19 male) w...

ea0024p9 | (1) | BSPED2010

Classical CAH due to a rare compound heterozygote mutation masquerading as pubarche in a 3 years old girl

Sachdev P , Dane C , Natarajan A

Background: Congenital adrenal hyperplasia, (CAH) is a common autosomal recessive condition, 95% of which is attributable to mutations in the 21-hydroxylase (CYP21) gene. There is a wide range of clinical features and genotype phenotype correlations for common mutations are well described.Case: EG presented to the endocrine clinic at the age of 3.5 years with pubarche of 6 months duration and Tanner staging of PH3, B1and clitoromegaly (Prader stage 1) Ur...

ea0024p10 | (1) | BSPED2010

Transient hypocortisolemia in post-operative cardiac patients: is it a cause for concern?

Nayak S , Mehta F , Blair J

Introduction: Cortisol insufficiency has been reported following cardiac surgery in infants but has not been associated with postoperative complications. In our hospital serum cortisol is measured following cardiac surgery when hypotension is refractory to two inotropes at maximal dose.Methods: Retrospective case note study to describe features of adrenal insufficiency in post-operative cardiac patients with low serum cortisol.Resu...

ea0024p11 | (1) | BSPED2010

Investigating children of glucocorticoid remediable aldosteronism patients' – early testing is beneficial

Warren C , Kumar Y

We present two cases of glucocorticoid remediable aldosteronism (GRA) diagnosed through screening the children of an affected mother.GRA is a rare inherited cause of hypertension in children. A monogenic defect produces a chimeric gene, which codes for two enzymes involved in the production of aldosterone and cortisol. This leads to adrenocorticotropin stimulated aldosterone production. GRA is thought to account for 1% of primary aldosteronism with aroun...

ea0024p12 | (1) | BSPED2010

A family kindred with persistent Mullerian duct syndrome secondary to AMH deficiency

Farikullah J , Nappo S , Hennayake S , Patel L , Ehtisham S

Background: Persistent Müllerian Duct syndrome (PMDS) is characterised by the presence of Müllerian structures in a 46XY male. PMDS can result from either a defect in Anti-Müllerian hormone (AMH) production or in the AMH receptor. AMH causes the Müllerian ducts to atrophy, enabling the testes to move transabdominally to the deep inguinal rings and into the scrotum. In the absence of AMH action, PMDS can cause problems with testicular descent. We present a f...

ea0024p13 | (1) | BSPED2010

The European DSD register – the start of an international DSD network

Rodie M , Jiang J , Sinnott R , Ahmed S F

To improve the clinical management of children with disorders of sex development (DSD), there is a need for multi-centre collaborative research as well as clinical interaction. The European DSD Register that became operational in 2008 is a cornerstone of the EuroDSD programme and allows clinicians and researchers to interact in a secure, internet-based, virtual research environment (VRE).Currently, 23 centres in 16 countries from four continents have exp...

ea0024p14 | (1) | BSPED2010

Evaluation of terminology used to describe disorders of sex development

Knight E , Malone P , Savage A , Brown J , Davies J

Objective: The terminology used to describe abnormalities of sex determination and sex differentiation was revised in 2006. It was anticipated that new terms, such as “disorder of sex development” (DSD), would improve communication between health professionals, aid parental understanding and be acceptable to affected individuals. The purpose of this study was to evaluate whether the new terminology has been an improvement compared to previous nomenclature.<p clas...

ea0024p15 | (1) | BSPED2010

Clitoral and penile sizes in healthy newborn babies in Ibadan, Nigeria

Jarrett O O , Ayoola O O , Ritzen M

Background: Standards of penile and clitoral lengths are useful for diagnosis of genital abnormalities. Micropenis could be the only sign in pituitary/hypothalamic dysfunction while clitoromegaly may reflect abnormalities of neonatal and maternal origin. Ambiguous genitalia if missed at birth could be fatal especially in cases of congenital adrenal hyperplasia. There are no African reports on normal reference ranges of both penile and clitoral sizes. This study aimed to genera...

ea0024p16 | (1) | BSPED2010

IGF-2 deficiency in the growth disorder 3-M syndrome

Murray P , Hanson D , Whatmore A , Black G C M , Clayton P E

Introduction: 3-M syndrome is an autosomal recessive disorder characterised by pre- and postnatal growth restriction, characteristic facial dysmorphism, normal intelligence and radiological features (slender long bones and tall vertebral bodies). It is known to be caused by mutations in the genes encoding Cullin 7 (a component of the ubiquitination system) and Obscurin like-1 (a cytoskeletal protein). The mechanisms through which mutations in these genes impair growth are uncl...

ea0024p17 | (1) | BSPED2010

Feasibility of follow-up in short, small for gestational age (SGA) infants at 2 years – interim report

Kinmond S , Staines J , Barnes F , Cooper A , Siddique J , Donnelly S , Freckleton C , McGowan S , Gault E J , Paterson W , Donaldson M

Most SGA infants show rapid catch-up growth in the first year of life such that height is in the normal range by 2 years. However, around 10% fail to catch-up and remain short. This latter group generally presents to specialist growth clinics at school age. Earlier identification would facilitate monitoring of growth and timely intervention.A 3-year, prospective population-based study was undertaken to determine the feasibility of identifying SGA babies ...

ea0024p18 | (1) | BSPED2010

The effect of pubertal timing on later adult obesity

Prentice P , Viner R

Introduction: Obesity has become an international epidemic, with complex multifactorial aetiology. Both modifiable and unchangeable risk factors must be identified, to target public health interventions. Some studies have suggested that earlier pubertal maturation increases risk of adult obesity, although others have found no relationship. We aimed to meta-analyse existing data and hypothesised that any association is likely to be confounded by childhood adiposity.<p class...

ea0024p19 | (1) | BSPED2010

Outcome of rhGH treatment in patients with achondroplasia and skeletal dysplasias

Alatzoglou K S , Mohan R , Ward S , Bridges N , Brook C G D , Hindmarsh P C , Dattani M T

Background and aim: Achondroplasia (ACH) is one of the commonest skeletal dysplasias affecting 1:15 000–1:40 000 live births. The average attained adult height is 131±5.6 cm for men and 124±5.9 cm for women. Previous studies have shown that the use of rhGH may result in transient increase in the growth rate, but there have been no long-term data regarding adult height. We aimed to study a cohort of patients with ACH and other skeletal dysplasias who have been tr...

ea0024p20 | (1) | BSPED2010

Retrospective analysis of patients with paediatric diagnosis of isolated growth hormone deficiency in a single centre from 1970–2000

Novikova E , Paterson W , Donaldson M

Introduction: Confirmation of permanent isolated growth hormone deficiency (IGHD) during childhood with subsequent adult transfer is important since such patients may benefit from adult GH replacement.Methods: A chance encounter with a former patient experiencing symptoms of adult GHD but untreated prompted us to review the final diagnosis and follow-up status of our GH-treated patients with IGHD between 1970 and 2000. Case records were examined for init...

ea0024p21 | (1) | BSPED2010

Endocrine, hypothalamic and neuro-developmental outcomes following treatment for craniopharyngiomas

Ikazoboh E C , Spoudeas H A , Dattani M T

Introduction: The management of Craniopharyngioma is associated with significant long-term morbidity. We retrospectively assessed the endocrine, hypothalamic and neuro-developmental morbidity (at most recent clinic review) in survivors of Craniopharyngioma diagnosed between 1/01/98 and 31/12/09, and currently being managed at our centre.Methods: We identified 63 patients in our cohort of which 25 were randomly selected for analysis (11 males, 14 females)...

ea0024p22 | (1) | BSPED2010

GHT does not improve QOL in all conditions

Eiser C , Wright N P , Butler G , Otero S C

Growth hormone treatment (GHT) is used to improve height, and potentially quality of life (QOL), in children with abnormal growth patterns. Previous QOL research suggests children with acquired growth hormone deficiency (AGHD) benefit more from GHT than those treated for other conditions.The aim was to determine child and parent reported QOL change over 1 year depending on GHT and diagnosis.One hundred and twenty-two children (mean...

ea0024p23 | (1) | BSPED2010

The impact of inflammatory bowel disease on pubertal growth is most marked in boys with Crohn’s disease

Mason A , Malik S , Russell R K , Bishop J , McGrogan P , Ahmed S F

Background: Puberty is understood to be commonly effected in adolescents with Crohn’s Disease (CD) and ulcerative colitis (UC). However, the extent of this effect and related problems with growth, have rarely been quantified.Objective: To determine the impact of CD and UC on pubertal growth.Methods: Retrospective study of 148 children with IBD (casenotes available, 135) who fulfilled the criteria for describing growth spurt pa...

ea0024p24 | (1) | BSPED2010

Short stature with deletion of chromosome 15q and duplication of 16q (q26.3:q23.1)

Ho S , Vasudevan P , Madira W , Greening J

Introduction: The IGF1-receptor (IGF1R) gene is located on the distal long arm of chromosome 15 (bands q26.3). Short stature due to mutation or deletion of IGF1R gene is rare. Mutation of this gene is better known compared to deletion as a cause of growth hormone resistance. We report a girl with pre and postnatal growth failure with chromosome 15q deletion and 16q duplication.Case report: Our patient was born at term weighing 2.7 kg (2nd centile). She w...

ea0024p25 | (1) | BSPED2010

Leucine sensitive hyperinsulinaemic hypoglycaemia in patients with 3-hydroxyacyl- coenzyme A dehydrogenase deficiency (HADH)

Heslegrave A , Kapoor R , Eaton S , Flanagan S , Ellard S , Hussain K

Background: HADH encodes for the enzyme 3-hydroxyacyl-coenzyme A dehydrogenase (HADH) and catalyses the penultimate reaction in the beta-oxidation of fatty acids. Mutations in the HADH gene have recently been described to cause protein sensitive hyperinsulinaemic hypoglycaemia (HH). Protein sensitive HH (specifically leucine sensitivity), is also associated with the hyperinsulinism-hyperammonaemia syndrome (HI/HA syndrome) caused by activating mutations of GLUD1 ...

ea0024p26 | (1) | BSPED2010

Stem cell lines derived from patients with congenital hyperinsulinism

Eastwood L E , Shepherd R M , Kim J , Skae M , Banjeree I , Hall C , Clayton P , Cosgrove K E , Dunne M

Congenital Hyperinsulinism (CHI) is primarily a β-cell disorder with an incomplete pathogenesis. The purpose of this study was to generate in vitro models of the disease for the purposes of investigating the relationship between gene defect and β-cell development and function. We obtained post-operative resections of pancreatic tissue from four patients with hyperinsulinism. The tissue was collagenase treated and maintained in cell culture condit...

ea0024p27 | (1) | BSPED2010

Feeding problems and their associated predictive factors in congenital hyperinsulinism of infancy (CHI)

Subbarayan A , Forsythe L , Rigby L , Marks J , Ehtisham S , Patel L , Amin R , Didi M , Blair J , Ellard S , Clayton P , Banerjee I , Skae M

Congenital Hyperinsulinism (CHI), a common cause of persistent hypoglycaemia in infancy can be associated with feeding problems (FP). The extent of FP in CHI is not known. The commonest genetic cause of CHI is mutations in ATP-sensitive potassium (K+ATP) channel genes (ABCC8 and KCNJ11).Aims: To define FP in CHI patients presenting to a regional centre, in relation to medication and K+ATP ...

ea0024p28 | (1) | BSPED2010

Properties of a pancreatic side-population stem cell lines from a patient with congenital hyperinsulinism

Sajib A , Kim J , Cosgrove K , Dunne M

NES2Y cells were derived several years ago from a patient following surgery for Congenital Hyperinsulinism (CHI). These cells have the inductive capacity to form insulin-secreting cells, but they are largely uncharacterized. The purpose of this study was to examine the expression and function of the ATP-binding cassette protein ABCG2 and to characterize the cells for their expression of markers of Side Population (SP) progenitor cells and Stellate Cells (SC). Cells were mainta...

ea0024p29 | (1) | BSPED2010

Cardiac abnormalities in children with congenital hyperinsulinism (CHI)

Petkar AS , Ciotti G , Rigby L , Patel L , Ehtisham S , Clayton P E , Banerjee I , Skae M , Didi M , Blair J

Congenital hyperinsulinism of Infancy (CHI) can be associated with cardiac problems such as septal hypertrophy and reversible hypertrophic cardiomyopathy (Breitweser et al. 1980, Harris et al. 1992); however, the prevalence and range of cardiac abnormalities in CHI has not been well investigated.Aims and methods: With National Research Ethics Service approval and consent, we retrospectively reviewed the prevalence of cardiac abnormalities in 48 children ...

ea0024p30 | (1) | BSPED2010

Pigmentary hypertrichosis and non autoimmune insulin dependent diabetes mellitus (PHID) syndrome is associated with chronic inflammation and elevated serum amyloid A protein

James C T , Padidela R , Hussain K

Background: PHID is a novel syndrome caused by mutations in SLC29A3, which encodes for the nucleoside transporter protein hENT3. It is associated with multiple endocrine manifestations including severe short stature, pubertal delay and pancreatic exocrine insufficiency. Mutations in SLC29A3 have also been linked to H syndrome and familial Rosai Dorfman Disease (RDD). A key feature of these syndromes is persistent inflammation. Currently there is no treatment for ...

ea0024p31 | (1) | BSPED2010

An unusual case of diabetes complicated by massive insulin oedema following onset of insulin therapy

Aravamudhan A , Senniappan S , Smith C

Insulin oedema is uncommon and poorly understood. It has been reported mainly in the adult literature. We present one of the youngest cases reported in the literature.A previously obese 9-year-old boy gradually lost weight over 18-month period and experienced polyuria and polydipsia for several months. He presented in diabetic ketoacidosis (blood glucose 24 mmol/l, pH 7.13, bicarbonate 6.6 mmol/l, potassium 3.13 mmol/l, urinary ketones 3+) which resp...

ea0024p32 | (1) | BSPED2010

Is point-of-care glucose testing sufficiently accurate to be reliably used for clinical decision-making?

Khan J , Shine B , Kay J , Ryan F

Background: Point-of-care tests (POCT) for glucose promote timely clinical management. We assessed the precision and accuracy of POCT compared with laboratory measurements in children undergoing dynamic function tests.Methods: Split samples of venous blood were tested on POCT meters (Precision PCx Plus and Precision Xceed Pro) and in the laboratory (ADVIA 2400). Clinical reliability was assessed against the ISO 15197 standard: In at least 95% of cases, d...

ea0024p33 | (1) | BSPED2010

Audit comparing the body-mass index (BMI) of children, with type 1 diabetes, in Nottingham, with current and historical background populations in the UK

Law J , Randell T , Denvir L

Obesity is a growing epidemic and a major cause of morbidity and mortality. Maintaining a healthy weight is of even greater importance for diabetics, due to the increased risk of micro-vascular and macro-vascular complications.There is suggestion that type 1 diabetic children are more likely to be obese than their peers (e.g. ‘Type 1 diabetes children often overweight’, www.diabetes.co.uk/news). In o...

ea0024p34 | (1) | BSPED2010

Undefined diabetes unfolds

Senniappan S , Smith C

Introduction: Although type 1 diabetes is the most common type of diabetes in children, with the steady increase in type 2 and rare forms of diabetes, it may be sometimes difficult to ascertain the type of diabetes at the time of presentation. Some children present with a combination of features and do not fit into one of the classical types of diabetes. The rapid progress in the molecular genetics has helped to identify the specific diagnosis for these rare forms of diabetes....

ea0024p35 | (1) | BSPED2010

NAFLD in type 1 DM: a report of 2 cases

Kumar P , Ghatak A , Blair J C , Didi M , Paul P

Introduction: Non-alcoholic steatohepatitis (NASH) is part of the spectrum of non-alcoholic fatty liver disease (NAFLD). NASH commonly occurs in patients with type 2 DM and is less recognised in type 1 DM. The natural history of NASH in adult patients suggests potential development of progressive fibrosis and cirrhosis. However, secondary glycogenosis, commonly occurs in type 1 DM, is reversible when good glycaemic control is achieved, but may be misidentified as NASH b...

ea0024p36 | (1) | BSPED2010

MCADD and IDDM-A rare combination

Mani S , El-Refee S , Sharrard M

Introduction: We describe an 11-year-old boy (N) with Medium-Chain Acyl Dehydrogenase Deficiency (MCADD) diagnosed at one year of life and type 1 IDDM diagnosed at 10 years.History and discussion: N was diagnosed with MCADD when he was found hypoglycaemic. He was treated with the standard Emergency Regimen (a special feeding plan used if the child is unwell or not feeding well, wherein glucose polymer feeds are given frequently) and has had no further pr...

ea0024p37 | (1) | BSPED2010

Type 2 diabetes in childhood: building a platform for interventions to prevent the progression to cardiovascular disease

Barnett A , Barrett T , Cotter C , Dunger D , Fulton E , Heywood J , Ilsley E , O'Brien A , Shield J , Wales J

Type 2 diabetes (T2DM) is increasing in children in the UK and worldwide, most likely related to the rising prevalence of obesity. We are developing a UK national cohort of children (under 18 completed years) with diabetes defined by WHO criteria, suspected type 2, BMI above 85th centile; but who do not have genetically confirmed monogenic diabetes, secondary diabetes, or any evidence of pancreatic autoimmunity. The aim of this study is to describe the characteristics of the f...

ea0024p38 | (1) | BSPED2010

Insulin oedema in children with type 1 diabetes mellitus

D'Souza N , Williams T , Matthews E , Alauddin M , Addicott L

Generalised oedema as a rare complication of insulin treatment in the absence of renal, hepatic or cardiovascular disease was first described by Leifer in 1928. The true incidence of insulin oedema in children with type 1 diabetes mellitus is unknown and since it was first reported in 1979, there have been only 12 reported cases worldwide. Insulin oedema has been described both in patients with newly diagnosed diabetes receiving insulin therapy for the first time and also in t...

ea0024p39 | (1) | BSPED2010

Case series: is thiamine responsive megaloblastic anaemia and diabetes associated with cardiac anomalies

Aswani N , Price K

We describe four cases of Thiamine Responsive Megaloblastic Anaemia (TRMA), Rogers Syndrome. Three cases are siblings, the fourth from another family. They are all of Pakistani origin and born to consanguineous parents. All have the clinical triad of megaloblastic anaemia, non-type 1 diabetes mellitus, and sensorineural deafness.The SLC19A2 gene mutation affects the transport of thiamine, which is required for normal tissue growth and development in huma...

ea0024p40 | (1) | BSPED2010

An audit on the process of transition from the paediatric diabetes service to the adult service at the University Hospital of Wales

Lewis V , Wareing L

Introduction: The period of adolescence is a difficult time for most people and is the time when transition from the paediatric diabetic service to the adult occurs; therefore a smooth transition is essential. The National Service Framework for Diabetes identified transition from paediatric care to adult as an area where protocols could support better care. Placing emphasis on the transition services may help in ensuring effective long-term control and health improvement.<...

ea0024p41 | (1) | BSPED2010

It’s not just Coeliac disease: gastroenterology referrals from a paediatric diabetes clinic

Lipscomb N C , Campbell E B , Imrie C

There is a well-recognised association between Coeliac disease and type 1 diabetes (T1DM). Four of our 68 patients have both conditions (5.9%). We present three other patients with T1DM and GI disease – two inflammatory bowel disease (IBD=2.9%) and one primary sclerosing cholangitis (PSC) and IBD (=1.5%).Case 1: Sixteen years old male, with T1DM from 13-year-old, developed diarrhoea and abdominal pain with no weight loss or blood pr. Investigation s...

ea0024p42 | (1) | BSPED2010

Molecular genetic testing for hypophosphatemic rickets

Owens M , Ellard S Ellard S

Hypophosphatemic rickets is a genetically heterogeneous disorder of defective renal phosphate transport and vitamin D metabolism with an X-linked dominant (XLHR), autosomal-dominant (ADHR) or autosomal-recessive (ARHR) pattern of inheritance. Germline mutations in the PHEX gene are associated with the X-linked form which affects both males and females. The autosomal dominant form is characterised by mutations in the FGF23 gene and the autosomal recessive form by ...

ea0024p43 | (1) | BSPED2010

Vitamin D status in paediatric oncology patients compared to control subjects: grounds for targeted supplementation

Sinha A , Avery P , Bailey S , Cheetham T

Objective: Children with malignant disease are at increased risk of bone disorders, cardiovascular disease and further neoplasia. Vitamin D status may influence this risk and so we assessed Vitamin D levels in children with malignant disease undergoing active treatment or surveillance post-therapy.Study design: This was an outpatient-based cross-sectional study of 60 children with a history of malignancy (cases: median age 11.1 years; range 1.5–24.4...

ea0024p44 | (1) | BSPED2010

A lifetime of aches, pains and hypocalcaemia

Leach E R , John W G , Boucher B J , Thalange N

A 13-year-old girl with a history of developmental dyspraxia, enamel hypoplasia and a raised creatinine kinase (CK) presented to her GP with fatigue on any physical exertion including walking. On questioning she has always complained of muscle pain and tiring easily since she was a young child. On blood testing it was identified that she was profoundly hypocalcaemic with a calcium adjusted for albumin of 1.52 mmol/l, phosphate of 3.20 mmol/l, parathyroid hormone (PTH) of 1.5 p...

ea0024p45 | (1) | BSPED2010

Metabolic bone disease of prematurity

Rajput S , Dutta A

Premature infants are at significant risk of reduced bone mineral content and osteopenia. Inadequate phosphate and calcium uptake in-utero followed by poor postnatal intake in the presence of high growth velocity leads to metabolic bone disease in premature babies. It is not due to vitamin D or parathyroid hormone deficiency.There is no national or international consensus on how to prevent or manage this condition leading to varied practice across the di...

ea0024p46 | (1) | BSPED2010

Trends in clinical activity of a paediatric bone densitometry service

Khanna S , Logan J , Ahmed S F

Background: Bone densitometry by DXA is now considered routine part of clinical management of children at risk of osteoporosis. Data on activity of a paediatric DXA service would be helpful for service planning but are currently lacking.Aim: A survey of referrals to the service and size-adjusted total body (TB) and lumbar spine (LS) bone mineral content for bone-area standard deviation scores (BMC for BA SDS) were obtained from the local database.<p ...

ea0024p47 | (1) | BSPED2010

Prevalence of congenital hypothyroidism (CHT) in infants presenting with prolonged jaundice

Ivison F , Gopalkothandapani S , Banerjee I , Tetlow L

Background: Among infants presenting with prolonged hyperbilirubinaemia there is anecdotal evidence that some babies who were Newborn Screening-negative for congenital hypothyroidism (CHT) have CHT diagnosed at the time of presentation with jaundice.Aims: To determine the prevalence of CHT in babies presenting with prolonged jaundice and to assess the predictive value of lowering the TSH cut-off for a screen-positive result on the ability to identify bab...

ea0024p48 | (1) | BSPED2010

A rare complication of Hashimoto’s thyroiditis

Kiriella K , Raine J

Primary thyroid gland lymphomas account for less than 5% of all thyroid malignancies. They mainly occur in the setting of lymphocytic thyroiditis or Hashimoto’s disease. The majority are mucosa-associated lymphoid tissue lymphomas and diffuse large B-cell lymphomas. There have not been any cases of thyroid lymphoma reported in children in the last 20 years.Our patient is a 9-year-old boy who was noted to have a lump on the right side of his neck in ...

ea0024p49 | (1) | BSPED2010

Timing of the first Guthrie test in preterm infants (32 weeks gestation or less) in Scotland and the efficiency of rescreening

Ahmid Mahjouba , Jones Jez , Mackenzie J , Stewart A , Donaldson M

Background: Premature infants are at risk of delayed screening for congenital hypothyroidism (CH), which may markedly affect initial treatment time and neurodevelopmental outcome. Rescreening preterm infants at four weeks (30 days) of life has been recommended to detect cases with delayed TSH elevation.Aim: To examine the performance of the CH screening programme in preterm infants aged ≤32 weeks in terms of timing of the initial Guthrie tests, and...

ea0024p50 | (1) | BSPED2010

Why the confusion in Hashimoto’s encephalopathy?

Anand G , Jayasekara A , Ibitoye R , Ray N , McShane M A , Ryan F J

Neurological complications of thyroid disease are well recognised; however the distinct clinical entity of encephalopathy associated with autoimmune thyroid disease has been only occasionally reported in the paediatric population. We describe a case of Hashimoto’s encephalopathy (HE) in a teenage girl.A 13-year-old girl presented with seizures and prolonged confusion. Baseline blood tests, CSF analysis and CT Brain were essentially normal. She was d...

ea0024p51 | (1) | BSPED2010

Birth weight, thyroid function, calcitonin levels and growth in children with congenital hypothyroidism

Ray N , Ahmed M L , Shine B , James T , Taj N , Ryan F J

Children with congenital hypothyroidism (CH) due to anatomical defects (AD) have different thyroid hormone levels at presentation from those with dyshormonogenesis (DH). We set out to explore these differences at initial presentation and at follow up. We also compared calcitonin levels and growth in these subjects with healthy controls. Data for the CH children were collected from hospital notes for birth weight, gestation, sex, initial laboratory thyroid function, starting do...

ea0024p52 | (1) | BSPED2010

UK trends in the treatment of young patients with thyrotoxicosis using radioiodine

Turner N , Driver I , Cheetham T

Background: Radioiodine (RI) treatment of benign thyroid disease in young people has received a lot of attention recently with authorities in the US highlighting an encouraging short and medium term safety record. In this audit we surveyed treatment centres in the UK to assess the trend in RI administration in patients aged 21 years and under.Methods: Over sixty Medical Physics Departments, dispersed to represent a suitable geographical coverage pattern ...

ea0024p53 | (1) | BSPED2010

A novel disorder of increased energy expenditure with severe failure to gain weight and increased brown fat

Padidela R , Azizun N , Bennett K , James C , Aufieri R , Eaton S , Hussain K

Introduction: Obesity is one of the biggest health challenges we currently face. Obesity results from imbalance of energy consumption and expenditure. Genetic studies on monogenic forms of obesity and Genome Wide Association studies have revealed neuronal mechanisms of genesis of obesity and/or leanness. We report a novel disorder of increased energy expenditure with severe failure to gain weight and increased brown fat.Case report: The proband is a whit...

ea0024p54 | (1) | BSPED2010

Association of malaria in pregnancy with maternal metabolic biomarkers, cord blood IGF-I and birth size in Nigerian infants: ‘The Ibadan Growth and Vascular Health Study’

Ayoola O O , Whatmore A J , Cruickshank J K , Clayton P E

Malaria is commoner amongst pregnant than non-pregnant women in Nigeria and is associated with a significant risk of having a low birth weight (LBW) baby which increases later risk of disease, in particular hypertensive heart disease in this population.We have established a birth cohort in Nigeria and in this study; we aimed to identify possible biomarkers in maternal and/or cord blood related to birth size on the background of malarial status in pregnan...

ea0024p55 | (1) | BSPED2010

A review of the endocrine transition service over the last 10 years

Davison T , Ray N , Ryan F , Karavitaki N

Transitional care has become a high priority for the Department of Health (1). The paediatric and adult endocrinology teams have been running a joint transition service since October 2000. A review of this service was undertaken in order to examine its effectiveness and aid service improvement.The details of all 81 patients, who had been through transitional care since October 2000, were acquired. Both their electronic records and adult endocrinology not...

ea0024p56 | (1) | BSPED2010

Hyperandrogensim secondary to topical testosterone exposure

Carroll A , McDonnell C , Moloney S , Murphy N P

Topical testosterone gels are now a widely used method of testosterone replacement therapy and have been shown to be convenient and effective. The unintentional transfer of testosterone gel to children or partners by skin contact with the application site causing hyperandrogenism has been described.A 3-year-old well girl was referred for assessment of precocious puberty. Pubic hair had been first noted by her mother 9 months earlier. There was no history...

ea0024p57 | (1) | BSPED2010

Retrospective audit of endocrine late effects in survivors of childhood cancer

Balapatabendi M D , Srinivasan J , Greening J , Ross E

Introduction: The Paediatric Oncology Late Effects Clinic in Leicester was established in 1999, in order to monitor cancer survivors for the development of secondary co-morbidity, including that relating to endocrinopathy from treatment for the underlying oncological diseases.Aim: As a retrospective audit of our clinical service against the current existing guidelines (UKCSSG, SIGN), specifically to monitor the endocrine standards with respect to axiolog...

ea0024p58 | (1) | BSPED2010

Persistent hypernatremia in infants…think diabetes insipidus

Iyer D , Karandikar S

Introduction: Central diabetes insipidus (CDI) in infants is rare and is often associated with intra-ventricular haemorrhage, congenital toxoplasmosis, intracranial tumours and anatomical abnormalities of the brain. We describe two cases of CDI associated with brain malformations, diagnosed at very young age with good response to oral DDAVP.Case 1: A 34-week IUGR girl born to consanguineous parents (first cousins) developed hypernatraemia on day three of...

ea0024p59 | (1) | BSPED2010

An unusual spectrum of phenotype in autoimmune polyendocrinopathy syndrome type 1: a case series of 5 patients within a single centre

Dias R P , Hakeem V , Peters C , Baker J , Hindmarsh P C , Dattani M T

Introduction: The Autoimmune Polyendocrinopathy Syndromes (APS) comprise 4 clinical subtypes (1–4), APS type 1 is an autosomal recessive disorder caused by mutations in the AIRE (Autoimmune Regulator) gene. It should include at least 2 of the following 3 major criteria: chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HPT) and adrenal insufficiency (AI) although 50% of patients develop all 3 features, usually before the age of 20 years. In addition, there are ...