Searchable abstracts of presentations at key conferences in endocrinology

ea0023oc3.8 | Oral Communications 3 | BSPED2009

Determinants of remission and relapse in a cohort of children with thyrotoxicosis treated with dose titration of carbimazole

Banerjee Indi , Amin Rakesh , Okecha Elizabeth , Subbarayan Anbu , Skae Mars , Hall Catherine , Gleeson Helena , Ehtisham Sarah , Patel Leena , Clayton Peter

Introduction: Factors determining remission and relapse in children with thyrotoxicosis include ethnicity, age and thyroid hormone levels at diagnosis. We investigated if similar factors influence remission and relapse in a contemporary cohort of children with autoimmune thyrotoxicosis treated by dose titration of carbimazole.Methods: Forty-seven children (39 females) with thyrotoxicosis, treated with carbimazole, were followed up for ≥2 years. Ini...

ea0023p34 | (1) | BSPED2009

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

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

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

ea0021p94 | Clinical practice/governance and case reports | SFEBES2009

An evaluation of the knowledge, motivation and weight-management service needs of obese young people

Williams Marc , Kendall Deborah , Gleeson Helena , Amin Rakesh , Banerjee Indi , Ehtisham Sarah , Patel Leena , Clayton Peter , Hall Catherine

Background: Obese young people are likely to suffer significant morbidity in adult life. Successful intervention during adolescence may have far-reaching benefits. Evidence is emerging that patient-responsive clinical services may deliver improved outcomes.Aims: To assess the perceptions of obese young people about weight and weight-management services.Method: Annonymised, postal questionnaire survey of 116 obese young people (9&#1...

ea0019p320 | Steroids | SFEBES2009

Sexual dichotomy in long term growth trajectories of children with 21-hydroxylase deficiency congenital adrenal hyperplasia (CAH)

Chandrasekhar Sudha , Patel Leena , Gemmell Islay , Amin Rakesh , Banerjee Indi , Hall Catherine , Jones Julie , O'Shea Elaine , Clayton Peter

Objective: To evaluate longitudinal growth in 21-hydroxylase deficiency CAH, factors contributing to this and outcome for BMI, weight (Wt) and height (Ht) in adolescence.Methods: Multi-level longitudinal models were used to evaluate growth patterns of 28 males and 29 females with CAH. Age at adiposity rebound was derived from the roots of the fitted curves and compared to UK 1990 references. The influence of hydrocortisone (HC) and fludrocortisone (FC) d...

ea0017oc17 | Diabetes 2 | BSPED2008

The genotype–phenotype relationship in congenital hyperinsulinism of infancy (CHI): the Northern Congenital Hyperinsulinism (NORCHI) Service 2 year experience

Skae M , Ellard S , Blankenstein O , Rigby L , Patel L , Amin R , Didi M , Banerjee I , Clayton P , Hall C

CHI is a disorder of dysregulated insulin release characterised by severe recurrent hypoglycaemia. Mutations in genes encoding the beta-cell sulphonylurea receptor (ABCC8) and inward-rectifying potassium-channel (KCNJ11) are the commonest genetic cause of CHI, followed by that encoding glutamate dehydrogenase (GLUD-1). Histologically, disease pathology is subdivided into diffuse or focal disease; the latter associated with paternal mutations and somatic lo...

ea0017p38 | (1) | BSPED2008

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

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

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

ea0009p55 | Growth and development | BES2005

Constitutional delay of growth and puberty (CDGP)is associated with the GPR54 gene but not with Leptin (L), Leptin Receptor (LR) and Cocaine and Amphetamin Regulated Transcript (CART) genes

Banerjee I , Trueman J , Patel L , Hall C , Price D , Hirschhorn J , Palmert M , Read A , Clayton P

CDGP is a common growth disorder, often dominantly inherited. Genetic association is thus very likely. There are many possible candidates but none are yet linked to CDGP. We assessed the possible contribution of L, LR genes (mutations in each cause very delayed or absent puberty), CART (mediates the effect of L on GnRH pulse generation), and GPR54 (a hypothalamic G-protein coupled receptor, which is mutated in familial hypogonadotrophic hypogonadism) genes.<p class="abstex...

ea0045p51 | Miscellaneous/other | BSPED2016

Altered islet architecture in congenital hyperinsulinism in infancy

Mal Walaa , Salomon-Estebanez Maria , Han Bing , Padidela Raja , Skae Mars , Craigie Ross , Cosgrove Karen , Banerjee Indi , Dunne Mark

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause of severe hypoglycaemia in children. CHI arises from mutations in ion channel genes (ABCC8/KCNJ11), which lead to inappropriate insulin secretion. CHI is also associated with increased cell proliferation and altered islet cell development. The aim of this study was to investigate the composition of the islet capsule in CHI and to relate this to the organisation of islet cells.</p...

ea0045p52 | Miscellaneous/other | BSPED2016

Enhanced islet cell neogenesis and endocrine cell differentiation are pathognomonic with congenital hyperinsulinism in infancy

Hardwick Elise , Han Bing , Salomon-Estebanez Maria , Padidela Raja , Skae Mars , Craigie Ross , Cosgrove Karen , Banerjee Indi , Dunne Mark

Background: Congenital Hyperinsulinism in Infancy (CHI) is characterised by inappropriate insulin release from islet β-cells. We currently attribute hypoglycaemia to β-cell dysfunction because of defects in the ion channel genes ABCC8 or KCNJ11. However, the CHI pancreas is also associated with the inappropriate expression of foetal-like transcription factors and enhanced cell proliferation. We hypothesised that islet cell differentiation and neogen...

ea0045p54 | Miscellaneous/other | BSPED2016

The profiles of insulin secretory granules are markedly different in β-cells of patients with either focal or diffuse Congenital Hyperinsulinism in Infancy (CHI)

Han Bing , Mohamed Zainab , Salomon-Estebanez Maria , Padidela Raja , Skae Mars , Craigie Ross , Cosgrove Karen , Banerjee Indi , Dunne Mark

Background: The mechanisms responsible for inappropriate insulin release from β-cells in Congenital Hyperinsulinism in Infancy (CHI) have largely focused upon defects in KATP channels. Little is known about insulin biogenesis, the profiles of insulin in insulin-containing secretory granules or whether the impact of KATP channel defects (due to mutations in ABCC8 or KCNJ11) is the same in diffuse- and focal disease.<p class="abst...