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 ...

Introduction: Non-alcoholic steatohepatitis (NASH) is part of the spectrum of non-alcoholic fatty liver disease (NAFLD). NASH commonly occurs in patients with type 2 DM and is less recognised in type 1 DM. The natural history of NASH in adult patients suggests potential development of progressive fibrosis and cirrhosis. However, secondary glycogenosis, commonly occurs in type 1 DM, is reversible when good glycaemic control is achieved, but may be misidentified as NASH b...

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...

Background: Cortisol profiles during treatment with standard hydrocortisone (StdHC) formulations are unphysiological. Some patients, with low cortisol levels between doses, experience symptomatic hypocortisolaemia and may benefit from modified release hydrocortisone (MRHC). Plenadren is a MRHC licensed for once daily dosing in adults.We offered Plenadren to patients with symptomatic hypocortisolaemia, documented to occur at times of low cortisol levels, ...

Introduction: Impairment of the hypothalamic–pituitary–adrenal (HPA) axis has been reported widely in children treated with inhaled corticosteroids (ICS). The integrity of HPA axis has been assessed using low (500 ng/1.73 m2 body surface area) and standard (250 mg) dose short synacthen tests (SST). Serum cortisol is measured at 0, 15, 20, 25, 30 and 35 min intervals in the low dose SST (LDSST) and at 0, 30 and 60 min in the standard dose SST (SDSST). The L...

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...

Background: Salivary biomarkers are attractive diagnostic tools for paediatric practice, enabling non-invasive sampling at home. Salivary cortisol (SCl) and cortisone (SCn) are sensitive markers of adrenal insufficiency during inhaled corticosteroid treatment(1). SCn is reported to be the best correlate of plasma cortisol. Measurements of SCl may not be necessary, reducing cost and sample volumes.Eleven beta hydroxysteroid dehydrogenase type 2...

Background: Low thyroid hormone concentrations in the first few weeks of life in preterm infants may be linked with poor neurodevelopment. We conducted a multi-centred randomised controlled trial of thyroxine (T4) supplementation in babies born under 28-weeks’ gestation (TIPIT study). A post hoc subgroup analysis was undertaken to examine brain growth and development.Methods: Seventy-eight infants received T4 supplementation an...

Congenital Hyperinsulinism (CHI), a common cause of persistent hypoglycaemia in infancy can be associated with feeding problems (FP). The extent of FP in CHI is not known. The commonest genetic cause of CHI is mutations in ATP-sensitive potassium (K+ATP) channel genes (ABCC8 and KCNJ11).Aims: To define FP in CHI patients presenting to a regional centre, in relation to medication and K+ATP ...

Background: Despite optimal management, children with inflammatory bowel disease (IBD) may suffer from growth retardation. The role of rhGH in these children is unclear.Design: Randomised controlled trial of rhGH (0.067 mg/kg per day) for 6 months.Subjects: Twenty-two children with IBD and HtSDS<−2 or HtSDS<−1 and HVSDS<−1. Eleven were in the control group (C) and eleven in the treatment group (Rx).</p...