Endocrine Abstracts

Introduction: Factors determining remission and relapse in children with thyrotoxicosis include ethnicity, age and thyroid hormone levels at diagnosis. We investigated if similar factors influence remission and relapse in a contemporary cohort of children with autoimmune thyrotoxicosis treated by dose titration of carbimazole.Methods: Forty-seven children (39 females) with thyrotoxicosis, treated with carbimazole, were followed up for ≥2 years. Ini...

Background: A key element of the transition process is encouraging young people (YP) to become more independent in their healthcare. However it is not known what skills YP feel they need before being ready for transfer to adult services.Method: A simple questionnaire was designed for YP to rate out of 5 A. their current status in terms of 5 aspects of independence in healthcare (5 “yes, I do it all of the time” to 1 “no, my family does it ...

Background: Obese young people are likely to suffer significant morbidity in adult life. Successful intervention during adolescence may have far-reaching benefits. Evidence is emerging that patient-responsive clinical services may deliver improved outcomes.Aims: To assess the perceptions of obese young people about weight and weight-management services.Method: Annonymised, postal questionnaire survey of 116 obese young people (9&#1...

Objective: To evaluate longitudinal growth in 21-hydroxylase deficiency CAH, factors contributing to this and outcome for BMI, weight (Wt) and height (Ht) in adolescence.Methods: Multi-level longitudinal models were used to evaluate growth patterns of 28 males and 29 females with CAH. Age at adiposity rebound was derived from the roots of the fitted curves and compared to UK 1990 references. The influence of hydrocortisone (HC) and fludrocortisone (FC) d...

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...

Previous research concerning the cognitive profile of children with CHI has identified a high incidence of significant learning difficulty (Rother et al. 2001, Jack et al. 2003). Both studies report an incidence of 30 to 50% cognitive skills within the learning disability range in both study populations. Furthermore, Rother et al. (2001) suggested that all children investigated demonstrated some form of cognitive difficulty, ranging from learning disabilit...

CDGP is a common growth disorder, often dominantly inherited. Genetic association is thus very likely. There are many possible candidates but none are yet linked to CDGP. We assessed the possible contribution of L, LR genes (mutations in each cause very delayed or absent puberty), CART (mediates the effect of L on GnRH pulse generation), and GPR54 (a hypothalamic G-protein coupled receptor, which is mutated in familial hypogonadotrophic hypogonadism) genes.<p class="abstex...

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause of severe hypoglycaemia in children. CHI arises from mutations in ion channel genes (ABCC8/KCNJ11), which lead to inappropriate insulin secretion. CHI is also associated with increased cell proliferation and altered islet cell development. The aim of this study was to investigate the composition of the islet capsule in CHI and to relate this to the organisation of islet cells.</p...

Background: Congenital Hyperinsulinism in Infancy (CHI) is characterised by inappropriate insulin release from islet β-cells. We currently attribute hypoglycaemia to β-cell dysfunction because of defects in the ion channel genes ABCC8 or KCNJ11. However, the CHI pancreas is also associated with the inappropriate expression of foetal-like transcription factors and enhanced cell proliferation. We hypothesised that islet cell differentiation and neogen...

Background: The mechanisms responsible for inappropriate insulin release from β-cells in Congenital Hyperinsulinism in Infancy (CHI) have largely focused upon defects in KATP channels. Little is known about insulin biogenesis, the profiles of insulin in insulin-containing secretory granules or whether the impact of KATP channel defects (due to mutations in ABCC8 or KCNJ11) is the same in diffuse- and focal disease.<p class="abst...