Endocrine Abstracts

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...

The aim of treatment in patients with acromegaly is to achieve serum GH/ IGF-I concentrations associated with cure or normalisation of mortality. Using the West Midlands acromegaly database (n=501) we assessed a number of parameters in the follow up of patients with acromegaly including the reliability of basal fasting GH in predicting nadir or mean GH during oral glucose tolerance test (OGTT) or growth hormone day curve (GHDC) respectively, the degree of discordance be...

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...

In childhood an appropriate response to GH treatment is achieved by titration of growth response against dose administered, with careful observation for side-effects. In order to evaluate the potential use of IGF monitoring in children treated with GH, a cross-sectional study has been carried in 215 children and adolescents (134 with GH deficiency, 54 with Turner syndrome and 29 with non-GHD growth disorders) treated with GH for 0.2 to 13.7 years.IGF-I ...

Voltage-gated calcium channels (VGCC) play a fundamental role in the control of insulin secretion from pancreatic B-cells since they govern rises in cytosolic Ca2+ in response to depolarization-dependent agonists, such as glucose. Here, we have examined the function and expression of VGCC in human B-cells. We isolated tissue from patients with B-cell adenoma (AD) and Hyperinsulinism in Infancy (HI) following surgery and used transplantable human islets as controls. ...

Background: Cardiometabolic risk is linked to being small for gestational age (SGA, birthweight <-2SDS). Using data from the Avon Longitudinal Study of Parents and Children (ALSPAC), an ‘omic signature in SGA catch-up children predicts pre-hypertension in adolescence. Suboptimal fetal growth (SFG) alone may be linked with greater cardiometabolic risk. Therefore, we focused on cardiometabolic risk in children born following pregnancies at higher risk f...

Objectives: Patients with homozygous 6Ψ mutations have GH insensitivity (GHI). We previously described spectrum of clinical and biochemical phenotypes of 11 6Ψ patients (David et al. JCEM 2007;92:655) and now report 9 additional patients. Response to rhIGF-I therapy has not previously been assessed.Methods: 20 6Ψ patients (12 M, 11 families, mean age 4.0±2.2 year) were diagnosed genetically in our centre. Continuous ...

Background: Pancreatic neuroendocrine tumors (pNETs) are slow growing, malignant tumors that show different survival outcomes by race. They are often diagnosed in late stages, with few treatments available. PNETs are the second most common pancreatic cancer and are rapidly increasing in incidence. Current size-based guidelines were largely developed in White patients and recently have been called into question for Black patients. We investigated differences of primary tumor si...

Introduction: Adverse neurodevelopmental outcomes have been recognised in children with hypoglycaemia due to early and late presenting congenital hyperinsulinism (CHI). The Vineland Adaptive Behaviour Scales II (VABS-II) is a standardised measure used to assess parent reported adaptive behaviour. The test measures five domains; motor, communication, daily living skills (DLS), socialisation, and maladaptive behaviour. We have used VABS-II to identify specific neurodevelopmental...

Introduction: Congenital hyperinsulinism (CHI) is an important cause of hypoglycaemia in infancy requiring intensive medical and surgical support. Carbohydrate requirement (CHO) represents a simple index of severity but does not predict the failure of medical treatment and hence the requirement for pancreatectomy.Aims: To design and validate a severity tool for use in early onset CHI patients.Methods: To design the Manchester CHI s...