Endocrine Abstracts

The TRH test is used in the diagnosis of hypothalamic-pituitary (hp) disorders in children. It is unclear how often the result of this test is helpful. We have examined the results of TRH testing in 143 children investigated primarily for disordered growth. Children with hp axis tumours were excluded.The TSH response to TRH (5microg/kg iv) was defined as abnormal if the peak TSH was <5mU/L (pituitary), or if the peak TSH at 60 mins was higher than at ...

Congenital isolated ACTH deficiency (IAD) is a rare inherited disorder that is clinically and genetically heterogeneous. Patients are characterised by low or absent cortisol production secondary to low plasma ACTH despite the absence of structural pituitary defects and normal secretory indices of other pituitary hormones. When tested, there is often no ACTH response to exogenous CRH. Onset may occur in the neonatal period, but often is first observed in later childhood. Candid...

ATP-evoked signalling events are known to promote release of insulin from pancreatic beta-cells in a Ca2+-dependent manner. In rodent beta-cells and insulin-secreting cell lines, this is mediated by purinergic receptors and there is evidence for the involvement of both P2X and P2Y subtypes. Here,we have used human insulin-secreting cells to examine the expression of purinoceptors in control and disease tissue. Intact islets and isolated beta-cells were obtained from...

Candidate gene approaches have identified loss of heterozygosity (LOH) at putative tumour suppressor gene (TSG) loci in sporadic pituitary tumours. This study reports a high-resolution genome wide allelotyping in a large cohort of somatotrophinomas and non-functioning pituitary adenomas (NFA). Samples were first subjected to whole genome amplification by primer extension amplification (PEP) to circumvent limitation imposed by insufficient DNA for the whole genome analysis with...

Growth hormone deficiency (GHD) is associated with adverse changes in lipid profile. There are no longitudinal studies of lipid abnormalities in childhood-onset GHD into adulthood. In order to more accurately define the metabolic consequences of GHD in childhood progressing through to adulthood we have examined lipid levels in a group of untreated severely GHD patients with a mutation in the GHRH receptor gene from a rural community in Northeast Brazil.1...

Background: Using small for gestational age (SGA) as a surrogate for fetal growth restriction, previous studies link adverse intrauterine environments to greater cardiometabolic risk. However, a fetus may undergo suboptimal fetal growth (SFG) without being SGA. The Manchester BabyGRO Study focused on recruiting pregnancies at greater risk of SFG, including pregnancies with low PAPP-A, where a pattern of reduced skeletal growth has been described(1). Associatio...

Background: Using small for gestational age (SGA) as a marker for fetal growth restriction (FGR), studies link an adverse intrauterine environment to cardiometabolic risk markers in childhood. Focusing on 3–6 year old children, where the majority were born following pregnancies at greater risk of suboptimal fetal growth (SFG) but only a minority were born SGA, cardiometabolic risk markers were measured and blood samples collected for metabolomic analysis....

Introduction: Patients with Cystic fibrosis are now living longer due to advances in nutritional and medical care. As a consequence a larger number are developing related co-morbidities such as cystic fibrosis related diabetes (CFRD). CFRD is the most common co-morbidity in CF, with the prevalence being up to 50% by the age of 30.Aims: To assess current practice in relation to the UK CF Trust guidelines 2004 – Screening for CFRD should begin at age ...

Introduction: Paediatric obesity is a growing concern for the health service. There is currently no consensus for routine screening of metabolic profiles and medical treatment in obese paediatric patients.Aims/methods: We aimed to determine medium-term outcomes of Metformin treatment on BMI, glucose and insulin levels in obese paediatric patients. In a retrospective review, data were collected from obese paediatric patients on Metformin for insulin resis...

Introduction: There is limited data on the psychological sequelae of obesity in paediatric patients.Aims/methods: We aimed to assess the prevalence of psychological comorbidities in obese paediatric patients. Internationally validated self-report questionnaires were offered to 19 patients and their parents from a tier three paediatric obesity clinics. These included the Paediatric Index of Emotional Distress (PI-ED); Beck Youth Inventory exploring self-p...