Endocrine Abstracts

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 ...

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...

In severe CHI which is unresponsive to medical therapy, pancreatic resection is undertaken to prevent further hypoglycaemia from dysregulated beta-cell insulin secretion. Traditionally, 95% subtotal pancreatectomy has been the surgery of choice (Lovvorn et al. 1999), with associated risks of post-operative complications such as lifelong diabetes and malabsorption. Since the introduction of 18F-DOPA PET-CT imaging, clinicians have been able to effectively differentia...

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...

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: Persistent Müllerian Duct syndrome (PMDS) is characterised by the presence of Müllerian structures in a 46XY male. PMDS can result from either a defect in Anti-Müllerian hormone (AMH) production or in the AMH receptor. AMH causes the Müllerian ducts to atrophy, enabling the testes to move transabdominally to the deep inguinal rings and into the scrotum. In the absence of AMH action, PMDS can cause problems with testicular descent. We present a f...

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...

Carriage of the exon 3 deletion in the GH receptor (GHR) gene has been reported to enhance growth response to GH therapy. JAK2 and PI3K are involved in signal transduction from the GH (JAK2/PI3K) and IGF1 (PI3K) receptors. We have investigated whether a single nucleotide polymorphism within these genes influences growth response to GH therapy. DNA was taken, with ethical approval, from 104 children treated with GH therapy. Diagnoses were: GHD (n=44), TS (n=23), S...

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...

Carriage of the exon 3 deletion in the GH receptor (GHR) gene has been reported to enhance growth response to GH therapy in a range of conditions. JAK2 and PI3Kinase are involved in signal transduction from the GH (JAK2/PI3Kinase) and IGF-1 (PI3Kinase) receptors. We have investigated whether single nucleotide polymorphisms within these genes influence growth response to GH therapy. DNA was taken, with ethical approval, from 97 children treated with GH therapy in a single growt...