Endocrine Abstracts

Autoimmune Polyglandular Syndrome (APS1), also known as Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED), is a rare but frequently debilitating disorder, usually presenting in childhood and adolescence; it is typically caused by homozygous AIRE mutations. The cardinal manifestations are chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism and autoimmune adrenal insufficiency; the development of any two of these three classic features leads to...

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...

Background: Hyperosmolar hyperglycaemic state (HHS) is an acute metabolic complication of diabetes that can lead to significant morbidity and mortality if managed incorrectly. With <1% prevalence, there is limited published literature available on HHS and most management guidelines worldwide are based solely on expert advice and opinions.Aims: To study the precipitating causes and identify baseline practises of HHS management, to highlight areas for ...