Endocrine Abstracts

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...

Background: Population data has shown an increased incidence in Type 1 Diabetes Mellitus (T1DM) following pandemic influenza A (H1N1). Worldwide studies have shown an increase in the incidence of T1DM in 2020 and 2021. Both locally and regionally in Northern Ireland we noticed a similar increase and decided to investigate further.Method: From March 2021 we tested newly diagnosed T1DM patients in Antrim Area Hospital for Anti-SARS-CoV-2 antibodies. If ant...

Case report: A previously well 16 year old female presented with a one day history of being unwell with agitation and confusion on the background of a three month history of polydipsia and polyuria. Initial biochemistry was in keeping with severe diabetic ketoacidosis (DKA): pH-6.75, HC03- 2.6 mmol/l, blood glucose- 21 mmol/l and ketones >4 mmol/l. Hypokalaemia of 3.3 mmol/l. She was admitted to ICU given the severity of DKA, biochemical disturbance and altered mental stat...

Introduction: Rickets was once considered to be a disease of the Victorian Era but it has become increasingly common in recent years. The most common cause is Vitamin D deficiency; however it is important to investigate for rarer causes if Vitamin D deficiency has been excluded.Case report: A healthy, Caucasian 3 year old girl was referred due to bowing of her femora, apparent since she started walking at 13 months. She was reported to be clumsy and tire...

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...

In Northern Ireland hypopaks (contains samples for glucose, lactate, hydroxybutyrate, insulin, growth hormone (GH), cortisol, amino acids, organic acids and acylcarnitines) are used to investigate hypoglycaemia in children. We aimed to assess the appropriateness of hypopak requests, to determine their usefulness in diagnosing endocrine and metabolic conditions and to determine if GH is helpful. Data for hypopaks received between 01 April 17 and 31 March 18 was analysed. Hypopa...

Introduction: When hypoglycaemia (blood glucose <2.6 mmol/l) is detected in a child a ‘Hypopak’ is sent, which tests for blood glucose, lactate, hydroxybutyrate, insulin, growth hormone, cortisol, amino acids, acylcarnitines, and urine organic acids. We aimed to determine whether samples were sent appropriately and completely, and whether a diagnosis ensued.Methods: All Hypopak samples received by the laboratory between 1/4/17 and 31/3/18 w...