Endocrine Abstracts

Introduction: The vitamin D (25OHD) status of a population will reflect genetic and environmental factors. We evaluated all 25OHD assays undertaken at a regional centre in an area at high risk of vitamin D deficiency, over a 10 year period on the basis that this would provide insight into annual, seasonal and age based trends in 25OHD status. We planned to correlate vitamin D measurement with trends in vitamin D prescribing.Methods: Data (66 694 samples)...

Background: Diabetic ketoacidosis (DKA) remains the leading cause of morbidity and mortality in children with type 1 diabetes. In the past few years, both the International Society for Paediatric and Adolescent Diabetes (ISPAD) and the British Society for Paediatric Endocrinology and Diabetes (BSPED) have recommended key changes in the management of DKA. These changes incorporate new evidence to reduce the incidence of cerebral oedema and the increased use of insulin pumps.</p...

Introduction: Even though fatigue is a common complaint in GH deficiency (GHD), its pathophysiology remains poorly understood. Fatigue can reflect central or peripheral disease processes. 31-Phosphorus magnetic resonance spectroscopy (31P-MRS) is a non-invasive technique used to measure skeletal muscle bioenergetics in vivo. Specifically, mitochondrial oxidative phosphorylation and proton efflux can be measured dynamically and in ‘real time’. The ai...

Background: Craniopharyngiomas are rare tumours with an annual incidence of 0.5–2/100 000. Though benign they still represent a management challenge because of morbidity that includes pituitary hormone deficiency, visual impairment, adipsia and morbid obesity. We retrospectively assessed the outcomes of craniopharyngioma patients in our centre over a 10-year period.Methods: All children (n=16) diagnosed with craniopharyngioma and treated in t...

The human CYP17A1 enzyme exerts two activities, 17a-hydroxylase and 17,20 lyase, catalysing key steps in human adrenal steroid biosynthesis. An in frame deletion of 3 bp in exon 1 of the CYP17A1 gene, resulting in the loss of phenylalanine in position 53 (F53del), is one of the first CYP17A1 mutations described (JBC 1989, 264:18076). Reported patients have invariably presented with severe hypokalaemic hypertension, reflecting 17α-hydoxylase deficiency, and s...

Background: Infants presenting with life threatening hyponatraemia and hyperkalaemia present a diagnostic conundrum that can reflect abnormally low aldosterone production (e.g. congenital adrenal hyperplasia (CAH), renal resistance to aldosterone associated with infected urinary tract malformations or single gene disorders also associated with failure of the kidney to respond to aldosterone (pseudohypoaldosteronism). Although incidence figures for individual c...

Introduction: Transition from child to adult healthcare is a period of vulnerability for young people with diabetes. We hypothesised that patient satisfaction with services and patient wellbeing would be positively associated with a satisfactory clinical progression.Methods: We included data from 150 young people recruited in 2012 to a longitudinal study of transition (http:research.ncl.ac.uk/transition). Young people’s satisfaction with services (&...

Background: Many adolescents and young adults with DMD receive long-term glucocorticoids (GC), a well-recognised cause of hypogonadotrophic hypogonadism. Pubertal induction is routinely offered to DMD adolescents in our centre but few individuals remain on supplementation into adulthood and it is unclear whether these men have age-appropriate endogenous testosterone production. Salivary testosterone (SalT) measurement is available but has not been used to assess androgen statu...

Mutations in CYP11A1, like those in STAR cause lipoid congenital adrenal hyperplasia manifesting with adrenal and gonadal insufficiencies along with derangements of the renin/angiotensin system. Increased adrenal size is usually a feature of STAR but not of CYP11A1 mutation. Milder forms presenting without all of these features have also been described. We present six patients from four families with CYP11A1 mutations discovered by ...

Background: Duchenne muscular dystrophy (DMD) is the most common muscular dystrophy, resulting in death at a young age. Corticosteroids improve muscle function and slow disease progression. However long-term steroid therapy is a significant risk factor for osteoporosis.Aim: To assess the effect of oral bisphosphonate (risedronate) treatment on bone mineral density in a cohort of steroid-treated children with DMD.Method: Annual bone...