Endocrine Abstracts

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: Optimal care in Type 1 Diabetes (T1DM) requires intensive insulin management with regular dose adjustments. A Download clinic (DC) was created for all patients attending the Paediatric Diabetes clinic. Patients downloaded their glucometers, pumps and Continuous Glucose Monitors (CGM) either at home or hospital. After analysis, the diabetes team provided feedback by email and phone.Objectives: To analyse the effects of the DC on the metaboli...

Cardiac complications including cardiac arrest in Diabetic Ketoacidosis (DKA) have been reported in adults but is not common in children. We present a case of a 3½ year old child with new onset Type 1 Diabetes who presented in severe DKA and went into cardiac arrest needing prolonged resuscitation after starting insulin infusion due to rapid drop of serum potassium (K+). Serum K+ on presentation was 2.8 mmol/l and dropped to 1.5 mmol/l within 2.5 h of starting insulin lea...

Background: Twin sisters with infantile epilepsy developed biochemical hyperthyroidism after commencing Topiramate, which resolved post cessation. This case-report describes the events and has found limited evidence in the literature.Case presentation: MCDA twins, 9 months of age, were admitted with seizure activity. Additionally twin 2, had neurocutaneous melanosis and a viral respiratory illness. Medications on admission were: Levetiracetam, Vigabatrin...

Background: Multiple endocrine neoplasia type 1 (MEN1) is a rare autosomal dominantly inherited condition predisposing to primary hyperparathyroidism (PHPT), pituitary tumors, gastroenteropancreatic tract neuroendocrine tumors (NET), thymic tumours and skin lesions. Clinical features are rare in the paediatric population and guidance exists on the screening for complications of MEN1.Objective: To describe clinical features and treatment outcomes in a sin...

Background: Iodine deficiency is the most common cause of acquired hypothyroidism worldwide. Incidence of iodine deficiency may be rising due to usage of vegan diet.Case presentation: We present siblings aged 2.5 years boy and 6 years old girl from family who are strict vegans. Both children have been on vegan diet since birth. Boy attended hospital urgently due to significant concerns about hypothyroidism. His TSH level 2 months before admission was 187...

Introduction: Duplications of the SOX3 gene at Xq27.1 are known to be associated with a spectrum of forebrain midline defects, isolated or multiple pituitary hormone deficiencies, spina bifida and sometimes learning difficulties. We report three cases of SOX3 duplication with hypopituitarism and differing presentations.Case reports: 1) A male infant presented in neonatal period with poor feeding, prolonged jaundice, central hypothyroidism and inadequate ...

Introduction: Daytime support from the diabetes-team reduces pressure on acute services however out-of-hours less support exists and diabetes related attendances to A&E are a potentially avoidable burden on resources. With the introduction of paediatric diabetes best-practice-tariff, recommendations included 24 h access to trained diabetes professionals for patients with known diabetes. In 2013 our three institutions created a consultant led out-of-hours paediatric diabete...

Introduction: Hypoglycaemic episodes (Hypos) can happen at any time in type 1 diabetes patients; sometimes quite unpredictably. Carrying ‘hypo supplies’ at all times is basic to good diabetes care; often delegated to parents for children with diabetes. The primary aim was to assess how this basic care activity is practised in real life; secondary aim was to correlate lack of hypo supplies with diabetes control or other patient characteristics.M...

Introduction: Most adolescents with GID have no overt functional or phenotypic abnormalities to explain their presentation. Currently all female to male (FtM) persons undergo detailed evaluation of adrenal function. This study aimed to determine whether subtle abnormalities of adrenal were present and what the appropriate investigation schedule should be.Methods: Over the past 4 years, 55 biological females aged mean age 16.54 years (13.46–18.37) we...