Endocrine Abstracts

An eight-year-old girl developed Insulin Dependent Diabetes Mellitus. Two years previously, she had been referred to the Department of Endocrinology with concerns regarding short stature, but had not attended. She was mildly dysmorphic and her height and weight both plotted to below the 0.4th centile for age (Height Standard Deviation Score = -3.75, Weight Standard Deviation Score = -2.28). Her mother was also noted to be short at 147.2cm. There was no family history of deafne...

Childhood obesity is increasing in prevalence and is associated with insulin resistance and Type II diabetes in later life. Site-specific differences in adipose tissue accumulation and associated insulin sensitivity may contribute to these problems.The aims of our study were: 1. To isolate and characterise, subcutaneous (SC) and visceral (V) preadipocytes using small biopsies from pre-pubertal children (ages:4-8years(n=3)) undergoing elective abdominal surgery, with normal...

Neonatal diabetes or monogenic diabetes of infancy can manifest as a transient or permanent condition. TNDM is most commonly caused by imprinting disorders on chromosome 6q24 (TNDM1.Uniparental Isodisomy Chromosome 6, Paternal Duplication of 6q24, loss of maternal methylation). Recently it has been identified that over half of those with maternal hypomethylation at 6q24 have relaxed maternal methylation at other imprinted loci and that the majority of these patients have mutat...

Obesity is associated with the development of the metabolic syndrome, and the current epidemic of childhood obesity raises enormous concerns regarding future pandemics of diabetes and cardiovascular disease.We report preliminary data from 26 obese caucasian children (age 3.8-17.8yrs; 16 prepubertal/10 adolescents; mean Body Mass Index Standard Deviation Score (BMI SDS) +3.85 - range 2.61-6.66) who attend our paediatric obesity clinic. BMI SDS was calculated using British 1...

Physiology shows vitamin D has a role in the immune system and glucose metabolism. Experimental and epidemiological studies demonstrate associations between type 1 diabetes mellitus (T1DM) and vitamin D levels. Vitamin D deficiency appears undesirable in T1DM, although its significance in aetiology and progression is controversial.We reviewed the outcome of implementing vitamin D screening at T1DM diagnosis. Methods were review of diabetes register, hosp...

Background: Hyperinsulinism–hyperammonaemia (HI/HA) syndrome is caused by gain of function mutations in the GLUD1 gene. Patients present with recurrent hyperinsulinaemic hypoglycaemia (HH) together with asymptomatic, persistent elevation of plasma ammonia levels. Leucine sensitivity is an important feature of this condition.Objectives: The aim of this study was to understand the genotype phenotype correlations in patients with HH due to GLUD1 mutati...

Introduction: TNDM due to genetic aberrations at 6q24 is the commonest cause of diabetes presenting within the first week of life. TNDM predisposes to diabetes mellitus in later life. We report on the clinical presentation of the largest worldwide cohort of 6q24 TNDM cases.Results: 164 cases were analysed. The mean age of presentation was 8 days with a mode of 1 day and maximum age of presentation of 90 days. On average, babies recovered by 4.5 months wi...

Type 2 diabetes (T2DM) is increasing in children in the UK and worldwide, most likely related to the rising prevalence of obesity. We are developing a UK national cohort of children (under 18 completed years) with diabetes defined by WHO criteria, suspected type 2, BMI above 85th centile; but who do not have genetically confirmed monogenic diabetes, secondary diabetes, or any evidence of pancreatic autoimmunity. The aim of this study is to describe the characteristics of the f...