Endocrine Abstracts

Successful minimally invasive parathyroidectomy for primary hyperparathyroidism depends on accuracy of pre-operative localisation studies. Ultrasound (US) and sestimibi (SM) scanning remain the imaging modalities of choice reserving MRI, CT and PET for patients who have not been cured by previous explorations or for whom other localization techniques are uninformative or discordant. The aim of this study was to review the accuracy of US and SM in the pre-operative localisation...

Background: Our practice is to commence newly diagnosed children and young people (CYP) with diabetes, over 5 years old, on multiple daily insulin (MDI), using fixed Insulin to Carbohydrate ratios (ICRs) with meals across the day. ICRs are subsequently adjusted according to blood glucose response, individualising insulin treatment. We know intensified insulin therapy includes use of varied ICRs, reflecting varying insulin sensitivity at different times of day. We do not know w...

Low IGFBP2 is associated with the metabolic syndrome, but high IGFBP2 is longitudinally associated with worsening renal function. IGFBP2 binds IGF2 (and IGF1) and modified IGF bioavailablilty. The aim of our study was to identify whether baseline IGFBP2 concentrations were associated with all-cause and cardiovascular mortality in type 2 diabetes.554 subjects (59.3% male, mean age 63.7 (S.D. 10.7)) with type 2 diabetes from the Salford Diab...

Background: 3-M syndrome is associated with severe proportionate pre- and postnatal growth restriction, and is caused by mutations in CUL7, OBSL1, or CCDC8 genes.Aims and methods: To define baseline growth and GH–IGF1 axis status as well as response to r-hGH in relation to mutation status in 3-M children, using retrospective analysis of data from clinical notes.Results: 50 individuals (19 CUL7, 19 <...

Associations of Insulin-like growth factor-II with cardiovascular risk have been inadequately studied. We studied longitudinal associations of IGF-II with cardiovascular risk factors in people with type 2 diabetes. Subjects and methods: 462 type-2 diabetes patients aged 26 to 86 years from the Salford Diabetes cohort were analysed. Longitudinal clinical information was extracted (years 2002–2009) from an integrated database of primary care and hospital data. IGF-II was me...

Insulin-like growth factors have fundamental roles in metabolism and apoptosis. Circulating IGF-I and IGF-II are primarily sequestrated with IGFBP-3 in ternary complexes with the acid-labile subunit. We hypothesized that polymorphisms of the IGFBP3 gene may impact circulating IGF-II concentrations.Methods: 478 Caucasian patients were selected from the Salford Diabetes Cohort for analysis. Thirteen haplotype tagging single nucleotide polymorphisms (SNPs) ...

Aim: To describe the prevalence and natural history of retinopathy in a cohort of children and young people with type 1 diabetes attending a tertiary hospital diabetes clinic.Methods: We analysed follow-up data from 2008 to 2010 on all children eligible for retinopathy screening using the ‘Twinkle’ diabetes database and the regional retinal screening database.Results: 88% (149/169) of eligible children were screened in 20...

Background: Galactokinase catalyses the first committed step in galactose metabolism, the conversion of galactose to galactose-1-phosphate. Galactokinase deficiency is an extremely rare form of galactosaemia and the most frequent complication reported is cataracts. Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia in the newborn period.Aims: To report the diagnostic pitfalls with bedside blood glucose testing in a neonate with combined ...

Introduction: Two insulin regimes are commonly used in type 1 diabetes (T1D): twice daily (BD) premixed insulin (short and intermediate acting), and multiple daily injections (MDI) of short acting insulin with once daily bolus of long acting insulin. MDI is associated with better glucose control in adults, but the evidence base is weaker for children.Objectives: We aimed to compare children started on MDI to BD from diagnosis, on HbA1c as a measure of gl...

Congenital adrenal hyperplasia (CAH) is one of the most common autosomal recessive disorders. About 5–8% of cases are caused by the deficiency of steroid 11β-hydroxylase (CYP11B1) due to mutations in CYP11B1 gene. CYP11B1-inactivating mutations can be found without particular hot-spot spread over the entire gene. A good phenotype-genotype correlation exists for the patients suffering from 11β-hydroxylase deficiency (11OHD). The prediction of diseas...