Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is a life-time disorder affecting 1 in 10 000–15 000 infants and in 90–95% of cases is due to a reduction in the activity of the adrenal 21-hydroxylase enzyme. CAH is frequently diagnosed in the newborn period with virilisation of the genitalia in females and salt-wasting (SW) in both sexes, the latter associated with very low levels of 21-hydroxylase enzyme activity. The simple virilising (SV) form presents during childhood with ...

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 Children’s Hospital and at the Christie Hospital and is the Director of t...

Gene arrays are a powerful tool to search for novel targets of drug action and disease-specific patterns of gene expression. GH has pleiotropic actions and thus a wide range of potential gene targets. Using an accessible tissue, namely peripheral blood mononuclear cells (PBMNCs), we have started to explore the use of gene arrays in the context of the in-vivo response to GH treatment.PBMNCs were obtained with consent and ethical permission from 2 prepuber...

Ghrelin, a novel GH-releasing n-octanoylated peptide, has been identified as an endogenous ligand for the 'orphan' GH secretagogue receptor. When administered iv or icv, Ghrelin causes a greater increase in serum GH concentrations than hexarelin or GHRH. However Ghrelin has a number of other actions: it promotes food intake, raises serum glucose and inhibits insulin secretion, increases ACTH and cortisol secretion and influences cardiac function.In orde...

Introduction. We have reported a family with atypical Laron syndrome with no obvious defect in the growth hormone receptor but with an apparent defect in growth hormone (GH) signaling. We aimed to assess how this signaling defect alters GH-dependent gene expression.Methods. Atypical Laron fibroblasts (Lfib) and normal fibroblasts (Nfib) were exposed to 200ng/ml of recombinant GH for 24 hours. mRNA was extracted and reverse transcribed using...

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 ...

Background: Infants born small for gestational age (SGA) usually show catch-up growth during the first few years of post-natal life. However, some infants remain small and little is known about the factors governing their growth failure. IGF-I receptor mutations account for a minority of cases therefore we have initiated an assessment of signalling molecules downstream of the receptor.Method: Skin biopsies were obtained with local ethics approval from he...

Objective: To assess the understanding of congenital adrenal hyperplasia (CAH) among families of Caucasian White (W) and Asian (A) with CAH, and also to evaluate the need for interpreters for Asian families attending the North West Regional CAH clinic.Design: A parent directed questionnaire was administered by two interviewers, one of whom spoke Urdu,Punjabi and Bengali to 18 A families ( M = 8 F=18) and 39 W families (M=20 F=22) with children with CAH, ...

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...

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...