Endocrine Abstracts

Background: Hypercalcaemia is a well-recognised feature amongst children with Williams-Beuren syndrome with a reported incidence between 0-43%1. In most cases this is mild however in some, reportedly 6.1% (Sindhar et al.1) it is severe enough for it to be actionable and cause nephrocalcinosis. We present 2 cases of severe hypercalcaemia requiring treatment with bisphosphonates. Case 1: A 16 month old male admitted following...

Introduction: In 2009, the Turner’s Syndrome Support Society UK released a checklist for the management of Turner’s Syndrome patients. The aim of this audit was to evaluate how well we are doing as a Tertiary Paediatric endocrine unit in meeting these required standards of care.Method: We performed a retrospective audit in June 2016 of patients diagnosed with Turner’s Syndrome in our unit between 2007 and 2015 using the Electronic Care Rec...

Introduction: PWS results from lack of expression of genes on the paternally inherited chromosome 15q11.2-q13. Clinical manifestations include hypotonia, altered body composition, reduced growth and a high incidence of obstructive sleep apnoea (OSA). Impaired GH secretion is documented in children with PWS. Recombinant growth hormone (rGH) use poses a therapeutic challenge due to potential life threatening adverse events, namely, the theoretical risk of increased lymphoid tiss...

Introduction: Hashimoto’s thyroiditis is the most common cause of acquired hypothyroidism in children and adolescents affecting ten time more females than males. Diagnosis is based on clinical features and antibodies against thyroid peroxidase (TPO) or thyroglobulin (TG). Addison’s is an autoimmune disease resulting in primary adrenal insufficiency. It is extremely rare in children and easily misdiagnosed. Levothyroxine may precipitate adrenal crisis in individuals w...

We describe the development of a new adolescent gender identity dysphoria (GID) service in Northern Ireland (population 1.8 million). Historically patients with GID <18 years were referred to The London joint Tavistock UCH adolescent GID service on a case by case basis. Following the commissioning of a GID service in Northern Ireland, a team of clinical psychologists, paediatric endocrinology nurse specialists, psychiatrist and paediatric endocrinologists, the first GID cl...

Introduction: Mauriac first described a syndrome in 1930 of growth failure, delayed puberty and hepatomegaly in children with type 1 diabetes. This was in the era prior to long acting insulin analogues being available. With the now widespread availability of various insulin analogues and near patient testing to optimise glucose control, this syndrome was presumed to be of historical interest only. There are increasing reports in the literature of the resurgence of this once fo...

Background: Insulin pump therapy has been linked to improved HbA1c levels, reduced frequency of severe hypoglycaemic episodes and reduced rates of Diabetic Ketoacidosis compared to treatment with multiple daily injections. Insulin pump therapy was started in 2008 in our unit.Aims: To compare the metabolic effect of insulin pump therapy vs multiple daily injections via pen devices in children with type 1 diabetes in our unit.Method:...

We present a patient who was incidentally diagnosed with neonatal diabetes at 4 months of age. Due to his small size his treatment has posed a number of challenges for our team.Case Report: A 4 month old boy presented to the Emergency Department with a petechial rash on his legs. Investigations revealed elevated blood glucose of 26.7 mmol/l but a normal pH of 7.39. He had glycosuria but no ketonuria. There was no history of weight loss or osmotic symptom...

Introduction: NICE CG15 (2004) recommends that diabetic patients aged over twelve years receive seven key care processes. The National Paediatric Diabetes Audit (NPDA) aims to improve outcomes and quality of care in paediatric diabetes. The following describes what proportion of children with type 1 diabetes in our Paediatric Diabetes Unit (PDU) are receiving these seven key care processes in comparison to the NPDA (2013–14).Audit Methodology: Patie...

Introduction: NICE CG15 (2004) states that children with diabetes should receive care to achieve optimum control to reduce risk from diabetes complications. The National Paediatric Diabetes Audit (NPDA) aims to improve outcomes in paediatric diabetes. The following describes the outcomes of care in our Paediatric Diabetes Unit (PDU) in comparison to the NPDA (2013-14).Audit Methodology: Patients aged 1–17 years with a diagnosis of diabetes for &#880...