Endocrine Abstracts

Background: Previous reports suggest that epilepsy and autism are more common in children with autoimmune diseases such as type 1 diabetes (T1D). While each condition is common in the general population, only small numbers of children have the two conditions together, so there is currently little coordinated support. We sought to describe the incidence in our own population.Methods: Retrospective review of the Diamond database and clinical notes for chil...

Queen’s Medical Centre, Nottingham, United KingdomTyrosinemia type-1 is a rare autosomal recessive disorder. It usually presents in an acute form in early infancy. Rarely, it can also present as a chronic form with gradual onset. The key presenting features are failure to thrive, liver dysfunction and/or Fanconi syndrome. We present a perplexing case of a 2-year-old girl with tyrosinemia type-1, who initially presented with failure to thrive and hypophosphatemic rickets w...

Background: The GST is commonly used in children and adolescents for the diagnosis of growth hormone (GH) deficiency. Evidence supports the use of sex steroid priming to improve diagnostic accuracy in GH provocation tests. This project, undertaken on behalf of the BSPED Clinical Committee, aims to identify current practice and develop consensus in sex hormone priming and GST protocols for the development of standardised UK protocols.Method: (1) Audit of ...

Background: Conventional treatment of X-linked hypophosphataemic rickets (XLH) involves administration of oral phosphate and vitamin D analogues. Newer therapies such as Anti Fibroblast Growth Factor 23 antibodies (burosumab) have now become available. An important treatment goal is to heal rickets; assessed by normalisation of serum alkaline phosphatase (ALP) levels and resolution of radiological signs of rickets.Objectives: (1) Assess disease severity ...

Introduction: Children with adrenal insufficiency require emergency hydrocortisone for serious illness in addition to any regular requirements. Individualised emergency plans for patients during sick days, detailing their oral and intramuscular hydrocortisone requirements, should be maintained, alongside appropriate alerts on hospital and pre-hospital systems to ensure health professionals are aware of their requirements promptly if they present acutely unwell. Following a chi...

Background: NICE guidelines (NG18) state that paediatric patients aged <18 years old with suspected diabetes mellitus (DM) should be immediately referred to specialist care to confirm diagnosis and provide immediate treatment. The Nottingham University Hospitals (NUH) Paediatric Endocrine team advise primary care to investigate suspected hyperglycaemia using a POCT (point of care testing) glucose meter at the primary care facility to avoid the delay incurred by sending a s...

Aim: To compare the BMI z-score of children with type 1 diabetes (T1DM) in Nottingham with that of national and local background populations and to identify factors associated with increased BMI.Methods: A retrospective observational cohort study of patients with T1DM aged 2–15 years under the care of the paediatric diabetes team at Nottingham Children’s Hospital, between April 2013 and March 2014. Mean BMI-z-score for the year was com...

Background: Current NICE guidance states that insulin pump therapy (CSII) can be considered in Type 1 diabetes (T1DM) patients who suffer disabling hypoglycaemia in an attempt to reach glycaemic control or whose HbA1C remains high (>69 mmol/l) despite careful management on multiple daily injections (MDI).Aims: Our aims were to determine impact of CSII therapy on glycaemic control, BMI, incidence of severe hypoglycaemia and episodes of diabetic ketoac...

Background: Pubertal induction with incremental doses of oestrogen replacement is an important component of care offered to hypogonadal patients with Turner Syndrome (TS). Low dose oral ethinylestradiol (EE) has been extensively used in the UK but natural 17-β oestradiol (more physiological, cheaper and easily monitored in blood) is becoming increasingly popular. We undertook this audit to compare the efficacy and acceptability of oral (EE) and patch (Evorel) oestrogen pr...

Background: Turner syndrome (TS) is characterised by a wide phenotype and age at presentation. We reviewed our over-12s Turner clinic over a period of 10 years to evaluate pattern of diagnosis, co-morbidities and management.Subjects and method: Retrospective data analysis of patients with TS who attended the over-12s clinic (2008–2017, n=28). Data is median (IQR) or mean±SD as appropriate.Result: The age at diagn...