Endocrine Abstracts

Type 1 pseudohypoaldosteronism (PHA1), defined as resistance to aldosterone, is characterised by salt wasting, hyperkalemia and metabolic acidosis and is associated with high renin and aldosterone levels. The autosomal recessive form is characterised by generalised salt wasting and is due to a defect in the epithelial sodium channel. Whilst there are individual case reports on this condition, there are little published data on long-term outcome including neurodevelopment.<...

Aims: To compare glycaemic control and change in body mass index (BMI) in children and adolescents newly diagnosed with type 1 diabetes (T1D) and started on either twice daily insulin (BD) or multiple daily insulin (MDI).Methods: This study looked retrospectively at all children newly diagnosed with T1D at our hospital from January 2006 to June 2007. There were 44 children and the outcome measures used were change in haemoglobin A1c (HbA1...

Aims: To compare glycaemic control and weight gain in children with type 1 diabetes changing from twice daily premixed insulin to multiple daily injections (MDI) with either insulin glargine or insulin detemir.Methods: A retrospective study of 41 consecutive children and adolescents with type 1 diabetes, changed to MDI between January 2005 and April 2007, with outcome measures of HbA1C change and body mass index SDS (BMI-SDS) change after 12 months of MD...

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...

Background: TMEM38B is a ubiquitously expressed monovalent cation-specific channel protein hypothesized to play a role in intracellular calcium homeostasis. To date, only two unique recessively inherited exon deletions in TMEM38B have been reported in 17 individuals with osteogenesis imperfecta (OI). Data on bone histomorphometry and bone material property have not previously been presented.Cases: Targeted next generation sequencing was performe...

Introduction: Non-syndromic autosomal recessively inherited non-goitrous congenital hypothyroidism (CHNG) can be caused by mutations in TSHR, PAX8, TSHB, and NKX2-5. We aimed to investigate mutational frequencies of these genes and genotype/phenotype correlations in consanguineous families with CHNG.Design: Since consanguinity in individuals with a presumptive genetic condition is often an indicator of an autosomal recessive inherita...