Endocrine Abstracts

Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition which leads to glucocorticoid deficiency. During childhood, aims of treatment are to prevent adrenal crisis and to achieve optimal adult height and normal puberty. In adults, aims of treatment are to prevent adrenal crisis, ensure normal fertility and avoid long-term consequences of glucocorticoid use. Current regimens with glucocorticoids cannot optimally replicate the normal physiological cortisol level...

Introduction: Diagnostic cut-offs for plasma cortisol on Short Synacthen Test (SST) are controversial, made more complicated by modern assays and paediatric normative values extrapolated from adult data. Some advocate a division between biochemical and clinical AI, with different cut-offs and management strategies. For asymptomatic children, with a low-index of suspicion, and borderline SST results our department has evolved a tendency to advise hydrocortisone replacement in t...

Hydrocortisone therapy should be individualised in patients with adrenal insufficiency to avoid over and under replacement. We assessed hydrocortisone absorbtion at different times of day which may impact on treatment regimens. We assessed the oral absorption of hydrocortisone in 48 patients (21M) aged between 6.1 and 20.3 years with congenital adrenal hyperplasia due to P450c21 deficiency. Hydrocortisone dosing ranged between 11.5 and 22.6 mg/m2 per day in three or...

Background: Hypocortisolaemia is common in neonates1 and infants following cardiac surgery.2 In critically ill children with other pathologies, hypocortisolaemia may result from accelerated cortisol metabolism and reduced protein binding. However, the timing and frequency of normalisation of cortisol concentrations following infantile critical illness is poorly described.Objective: To describe the natural history of hypocortisolaemi...

Introduction: Loss of function mutations in SGPL1, a key component of sphingolipid metabolism, are associated with accumulation of sphingolipid intermediates giving rise to a multisystemic disease incorporating primary adrenal insufficiency (PAI) and progressive renal and neurological disease. Sphingolipid accumulation is implicated in mitochondrial pathology.Objective: To investigate the impact of SGPL1 deficiency on mitochondrial morphology/ f...

The aim of cortisol replacement in adrenal insufficiency is to mimic the normal cortisol circadian rhythm. Timing of the last dose varies. Paediatric practice doses as close to midnight or after as possible compared to no dose after 18.00 h in adults. Using a detailed questionnaire, we ascertained side effect prevalence in 226 patients with adrenal insufficiency (77 CAH, 82 Addison, 67 hypopituitarism) and compared frequency of problems with timing glucocorticoid replacement. ...