Endocrine Abstracts

Introduction: Familial hypercholesterolaemia (FH) has a gene frequency of at least 1/500 with >80% those affected remaining unidentified. Affected individuals have elevated LDL levels from birth which is a major cause of treatable premature coronary artery disease. NICE guidance recommends statin treatment from the age of 10 yrs for children with a confirmed diagnosis of FH. We were the first centre in England to have commissioned contact tracing and cascade testing to con...

Introduction: The Tier 3 paediatric weight management service at University Hospital Southampton comprises a Paediatric Endocrine Consultant, a Clinical Nurse Specialist and Specialist Dieticians. Children may be referred if they have an endocrinopathy, metabolic co-morbidity or obesity syndrome. We offer at least two years of engagement within the service prior to discharge.Service Evaluation: Twenty-six Tier 3 patients were under follow-up between 1<su...

Introduction: Exposure to deficient/excess glucocorticoids can lead to long-term health problems in patients with adrenal insufficiency. An age-appropriate low dose hydrocortisone formulation is not available therefore manipulation a 10 mg tablet is required with potential for inaccurate dosing.Aims: To assess the variability in manipulation procedures recommended by healthcare professionals and undertaken by parents/carers. To quantify the dose-variabil...

Introduction: Exposure to deficient/excess glucocorticoids can lead to long-term health problems in patients with adrenal insufficiency. Historically and age-appropriate hydrocortisone formulation has not been available. Adrenal crisis is associated with significant morbidity and mortality.Aims: To assess prescribing practice for oral hydrocortisone and sick day advise across the UK.Methods: Paediatric endocrinologists and parents[...

Introduction: The insulin tolerance test (ITT) is the gold standard method to assess GH and/or ACTH deficiency. Safety concerns with the use of this test were raised more than 20 years ago from overtreatment of hypoglycaemia and consequent cerebral oedema, resulting in some centres using alternative tests. We have re-appraised use of the ITT in a contemporary setting and evaluated: i) timing of the glucose nadir, ii) time to resolution of hypoglycaemia, iii) adverse events and...

Adrenal insufficiency (AI) is characterised by lack of cortisol production from the adrenal glands which is treated with replacement doses of hydrocortisone. At times of physiological stress there is an increased requirement for exogenous glucocorticoids, which if untreated can lead to an adrenal crisis. Currently there are no unified guidelines for those <18 years old in the UK; this can lead to a substantial variation in the management of AI in both an emergency and peri...