Searchable abstracts of presentations at key conferences in endocrinology

ea0021pl8biog | Clinical Endocrinology Trust Lecture | SFEBES2009

Clinical Endocrinology Trust Lecture

Clayton P E

P E Clayton, Endocrinology and Diabetes Group, Manchester Academic Health Sciences Centre, University of Manchester, Manchester, UK AbstractPeter Clayton is Professor of Child Health and Paediatric Endocrinology in the Faculty of Medical and Human Sciences at the University of Manchester. He is an honorary consultant at the Royal Manchester ChildrenÂ’s Hospital and at the Christie Hospital and is the Director of t...

ea0024oc2.4 | Oral Communications 2 (Brief Communications) | BSPED2010

Morbidity and Mortality of Infants with Salt Wasting Congenital Adrenal Hyperplasia in an Unscreened Population

Hird B E , Patel L , Tobi S , Clayton P E

Due to the non-specificity of symptoms in male neonates affected by salt-wasting (SW) CAH, it is hypothesised that a proportion die prior to diagnosis in countries lacking a newborn screening (NBS) programme, such as the UK. The aim of this study was to analyse 17-hydroxyprogesterone (17-OHP) in stored NBS blood spot samples, to detect undiagnosed cases of CAH. Samples were retrieved from storage for neonates who were born between 1994 and 2006, who subsequently died before 7 ...

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...

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...

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 ...

ea0023oc1.5 | Oral Communications 1 | BSPED2009

The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor obscurin-like 1

Hanson D , Murray P G , Sud A , Temtamy S A , Aglan M , Superti-Furga A , Holder S E , Urquhart J , Hilton E , Manson F D C , Scambler P , Black G C M , Clayton P E

3-M syndrome is an autosomal recessive primordial growth disorder characterized by pre- and post-natal growth restriction, facial dysmorphism and radiological abnormalities. Mutations in the gene CUL7 have been previously shown to cause 3-M syndrome. CUL7 is a member of the cullin family of E3 ubiquitin ligases involved in targeted protein degradation.We identified a large cohort of 3-M syndrome patients who did not carry CUL7 mutations but...