Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0017p13 | (1) | BSPED2008

Short-term height gain in boys with constitutional delay of growth and puberty treated with testosterone esters or enantate

Gardner C , Kumar P , Banerjee I , Didi M , Blair J

In boys with constitutional delay of growth and puberty (CDGP), puberty may be induced with a short course of testosterone, either as esters or enantate injections. While both types of testosterone are known to be effective in inducing puberty, there are no studies comparing their efficacies. We have compared height gain, a quantitative marker of puberty, between boys treated with a short course of testosterone esters and enantate injections in a retrospective, observational s...

ea0036P81 | (1) | BSPED2014

A case report of TRβ mutation leading to raised T4 levels presenting with abnormal body habitus

Tomlinson N D , Banerjee I , Chatterjee K , Smith T D , Mukherjee A

Introduction: We present a 5-year-old girl with thyroid hormone resistance, subsequently discovered to be heterozygous for TRβ mutation. This case highlights the necessity to investigate, in detail, all children with persistently high thyroxin with normal TSH levels in order to aid future management and the necessity to follow them up.Case report: SD was born at term by normal delivery weighing 3.34 kg (50th centile). She was referred at 6 months of...

ea0024oc2.3 | Oral Communications 2 (Brief Communications) | BSPED2010

The phenotype of late-presenting congenital hyperinsulinism

Ilangaratne C , Rigby L , Skae M , Flanagan S , Ellard S , Banerjee I , Clayton P , Members NORCHI

Background: Children with hypoglycaemia due to Congenital Hyperinsulinism (CHI) usually present in the neonatal period but late presentations also occur. The phenotype of late-presenting CHI has not been well described.Aim and methods: We have reviewed the clinical course of children (n=22) presenting with CHI after 1 month of age in relation to mode of presentation, rapid KATP genetic mutation analysis, neurodevelopment, clinical progr...

ea0024bc1.2 | (1) | BSPED2010

Knowledge, perceptions and actions of obese paediatric patients

Magee L , Gleeson H , Skae M , Banerjee I , Patel L , Clayton P , Ehtisham S

Introduction: The UK has seen a steady rise in childhood obesity over the last 30 years, with nearly a third of children aged 2–15 now overweight or obese. Childhood obesity represents a significant health burden, costing the NHS many millions of pounds.Aim: The aim of this study was to investigate the knowledge, perception and actions of obese patients at the Royal Manchester Children’s Hospital (RMCH), to guide recommendations for improving t...

ea0023p10 | (1) | BSPED2009

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

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

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

ea0017oc6 | Endocrinology 2 | BSPED2008

A common polymorphism of the growth hormone receptor (GHR) and response to GH: a report of 97 cases (Manchester) and literature meta-analysis

Solomon M , Renehan A , Morjaria R , Patel L , Whatmore A , Shaikh G , Amin R , Banerjee I , Clayton P

Background: A polymorphism of the GHR gene, deletion of exon 3 (d3 GHR), has been associated with improved growth response to GH in some studies. We investigated the effect of this polymorphism across several diagnoses, evaluating parameters of growth outcome from a single institution (Manchester) and combined these with those derived from the literature using meta-analytical approaches.Methods: GHR genotype was assessed by PCR and related to clinical an...

ea0024bc1.4 | (1) | BSPED2010

Lessons from Klinefelter syndrome (47,XXY): a common DSD but with significant variation in presentation

Gopal-K J S , Patel L , Ehtisham S , Amin R , Hennayake S , Banerjee I , Clayton P E , Skae M S

Background: Klinefelter syndrome (KS) is the commonest sex chromosomal disorder. Characteristic features include male phenotype with hypogonadism and progressive testicular failure, gynaecomastia and learning difficulties. The association between mediastinal germ cell tumours (GCT-M) and KS is well established, with KS occurring in 20% of GCT-M patients and the reported incidence of GCT-M in KS being 1.5 per 1000 (Nichols, 1991). Genital anomalies are also known to be rarely o...

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 ...

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...