Endocrine Abstracts

Introduction: Management of paediatric cortisol deficiency requires regular parent and child education and effective liaison with the emergency services. Best practice in the management of these patients is largely based upon local consensus. An annual steroid review service was introduced by the CNS team to provide education and improve parental understanding of the issues regarding cortisol deficiency in children. Emergency alert systems for the local children’s emergen...

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...

We present two families illustrating complex management issues introduced by mutational analysis in CAH.Family 1. A female index case presented at birth with ambiguous genitalia and was diagnosed with severe salt losing CAH. She is a compound heterozygote with two severe mutations: 659G (intron 2 splice site mutation) from her mother and CYP21 deletion from her father. Mother and mother's identical twin sister have compound heterozygosity for the mild mu...

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...

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...

Aim: There is emerging evidence that survivors of BMT not only suffer long term endocrine sequelae, but also have an increased risk of cardiovascular disease. The UKCCSG guidelines suggest that BMT survivors should be monitored for cardiac and lung toxicities of previous treatments using cardiac ECHOs and pulmonary function tests (PFTs). We aimed to examine body composition, aerobic fitness, ECHOs and PFTs in adolescent and young adult survivors on GHTx....

Background: There is emerging evidence that BMT survivors not only suffer long term endocrine sequelae, but also have increased risk of cardiovascular disease and T2DM. We examined body composition and cardiovascular and metabolic risk factors in adolescent and young adult survivors.Method: We enrolled 36 BMT survivors (20 male). Seven were pre-pubertal, 9 pubertal, and 20 post-pubertal. We measured body composition by DEXA scan and BMI, and fasted lipid...

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...