Searchable abstracts of presentations at key conferences in endocrinology

ea0005p144 | Endocrine Tumours and Neoplasia | BES2003

Metaiodobenzylguanidine scintigraghy (MIBG) and familial screening are not useful in phaeochromocytoma

Gardner S , Amin R , Atkinson C , Turner H , Wass J

Fifty patients (male:female 23:27) with a phaeochromocytoma or paraganglionoma have been seen within the Oxford hospitals since 1985. Further information has been located on 48. Patients had a median age of 42.6 years (range 19.4-74.6) and a median follow up of 13.9 months postoperatively (range 0.6-146.3). The adenoma was unilateral in 44 cases (88%, left 20, right 22) and bilateral in 4 cases (8% 2 Von Hippel-Lindau disease (VHL) 1 Neurofibromatosis type 1 (NF1) 1 Sporadic)....

ea0066p20 | Diabetes 1 | BSPED2019

Identifying barriers and solutions to the optimal management of a patient with T1DM and a severe life limiting dermatological condition

Wijesinghe Nimasha , Drew Samantha , Cunjamalay Annaruby , Howard Sasha R , Amin Rakesh , Peters Catherine

Background: We present a case of a 10 year old female with T1DM, referred to our tertiary centre for complex diabetes care due to her other severe chronic dermatological condition. We discuss the difficulties with optimizing diabetes control in such a chronic debilitating condition which has a pervasive effect on T1DM treatment.Case: To our knowledge this is only the second reported case of a child with T1DM and Epidermolysis Bullosa. Severe Recessive Dy...

ea0039ep39 | Diabetes | BSPED2015

Young people with type 1 diabetes of non-white ethnicity and lower socioeconomic status have poorer glycaemic control in England and Wales – a national population-based study

Khanolkar Amal R , Amin Rakesh , Taylor-Robinson David , Viner Russell M , Warner Justin T , Stepenhson Terence

Introduction: The impact of ethnicity and socioeconomic status (SES) on glycaemic control in children with type 1 diabetes (T1D) is poorly understood in England and Wales.Methods: We studied 18 478 children and young people with T1D aged <19 years attending diabetes clinics in England and Wales and included in the 2012–2013 National Paediatric Diabetes Audit (NPDA). Self-identified ethnicity was categorized as white, Asian, black, mixed, other a...

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...

ea0051p038 | Pituitary and growth | BSPED2017

Growth hormone neurosecretory dysfunction as part of the spectrum of growth hormone deficiency disorders which benefit from growth hormone treatment

Caiulo Silvana , Gan Hoong-Wei , Hughes Claire R. , Amin Rakesh , Spoudeas Helen , Peters Catherine , Hindmarsh Peter , Shah Pratik , Dattani Mehul

Objectives: Current provocative tests for GH deficiency (GHD) are neither 100% sensitive nor specific. GH neurosecretory dysfunction (NSD) refers to the presence of growth failure, normal stimulated GH responses, but impaired spontaneous GH secretion. We describe our experience in managing GHNSD over 7 years.Methods: We retrospectively reviewed a cohort of 106 children admitted for 12-h overnight GH profiles (with 20-min sampling) between 2010 and 2016. ...

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...

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...