Endocrine Abstracts

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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