Endocrine Abstracts

Background: Type 1 diabetes (T1D) is characterised by autoimmune destruction of pancreatic beta cells leading to insulin deficiency. Prompt referral and treatment is important to prevent diabetic ketoacidosis (DKA) which remains the commonest cause of death in this condition. NICE guidance 2004, advises same day referral to specialist paediatric Diabetes team when childhood diabetes is suspected.Aim: The aim was to audit the timeliness of referrals of ch...

Introduction : Most common cause of rickets is vitamin D deficiency. Genetic mutations in the metabolism and function of Vitamin D is a rarer cause of rickets.Case report : A16 month old male presented with bilateral clavicular swelling, constipation, generalised weakness and poor growth. He also had delay in motor milestones and was only able to sit with support. He was born in the UK to consanguineous parents of Asian origin.Exam...

Background: CH has an incidence of 1 per 3500 live births per year. Early diagnosis and treatment are essential to prevent severe morbidity of mental retardation and developmental delay in children. The newborn screening programme has played a major role in management of CH.Objectives: The aim of the first audit was to identify our practice in management of CH once the newborn screening laboratory notified about an abnormal result. Following the first au...

Introduction: In children, tumours occupying the pituitary fossa are mainly craniopharyngioma (80–90%) and pituitary adenomas (2–3%). We present two cases of pituitary adenoma and the challenging management when complete surgical resection is not possible. Case 1: A 13.5 year old girl presented with tall stature. Pituitary hormone profile revealed high IGF1 123 nmol/l (24.5–66) and prolactin 722 mU/l (102–496). Growth hormone (GH) was not completely suppres...

Introduction: The pathogenesis of short stature and growth failure in Turner syndrome (TS) is multifactorial, and includes low birthweight, ovarian failure and skeletal dysplasia. Although abnormalities of the GH-IGF1 axis are implicated, patients are not GH-deficient (GHD) and consequently non-GHD doses of GH are utilised ie. 45–50 μg/kg per day or 9.8 mg/m2 per week. Although initially used in GHD patients, IGF1 titration is increasingly being used in al...