Endocrine Abstracts

Prader-Willi Syndrome (PWS) is a rare genetic disorder with a multitude of problems, often attributed to hypothalamic dysfunction. A child with PWS has a genetic predisposition to develop obesity due to appetite dysregulation, hyperphagia and excess calorie intake on the one hand; hypotonia, decreased muscle mass and decreased ability to spend the calories on the other hand. Although, there is no cure for PWS, lives of children with PWS can be significantly improved with speci...

Introduction: Continuous Subcutaneous Insulin Infusion (CSII) therapy is an established treatment of Type 1 Diabetes Mellitus (T1DM). NICE recommends a target HbA1c of ≤6.5% to minimise long-term complication risks1. CSII can be considered in patients <12 years and in those with high HbA1c (≥8.5%) on multiple daily insulin injections, despite a high level of care1. The aim of this audit is to review diabetes control over time in T1DM patie...

Introduction: The use of Closed Loop (CL) system has slowly progressed from using a short time overnight to prolonged periods under everyday living conditions. In the last few years, Do-It-Yourself Closed Loop (DIY-CL) technology has become openly available as part of ‘patient-led’ global initiative (#Wearenotwaiting) outside the conventional regulatory pathways, raising many medico-legal and ethical dilemmas.Methods: Majority of the DIY-CL use...

Case history: An eight-year-old white male presented to his General Practitioner with a six-month history of cough and malaise. Blood tests revealed isolated hypercalcaemia (4 mmol/l). He was referred to the Children’s Emergency Department for urgent management. On examination, uveitis and lymphadenopathy were noted. Repeat blood tests confirmed hypercalcaemia. Despite hyperhydration and Furosemide, the serum calcium remained persistently elevated.I...

Introduction: PATRO children is an international, non-interventional, longitudinal study of the long-term safety of a biosimilar recombinant human growth hormone (Omnitrope, Sandoz). In particular, the study assesses the diabetogenic potential of Omnitrope and the risk of malignancies. The long-term efficacy is a secondary objective of the study. Here we present safety and efficacy data of UK patients recruited since 2008, following an interim analysis in May 2017.<p class...

Introduction: Diabetic Ketoacidosis (DKA) is a medical emergency and major cause of mortality in children with type 1 diabetes (T1D). Careful evaluation is needed to identify expected and more unusual complications of DKA.Case report: A 16 year old male with poorly controlled T1D presented with severe DKA; he reported excessive vomiting and had severe abdominal pain. He informed taking ‘Ecstasy’ (3,4-methylenedioxymethamphetamine; MDMA) twice i...

Introduction: Lifestyle, exercise and diet vary hugely between summer and winter months population-wide. We compared diabetes control in children with type 1 diabetes (T1D), during summer and winter months.Methods: All children under 18 years with T1D attending our diabetes clinics were eligible. Those diagnosed within one year, changed insulin regimen between seasons or with incomplete data were excluded. Summer or winter months were defined by British ...

Introduction: PWS children have higher body fat content and lower lean muscle mass as compared to normal population. Bioelectrical impedance analysis (BIA) estimates lean muscle mass and total fat content separately and thus is more useful than BMI. Continued weight gain despite treatment, can be distressing to patients and parents. We hoped to resolve this dilemma through serial body composition measurements.Materials and methods: Patients and families ...

Introduction: In total of 5α-reductase 2 is vital in sexual development of male foetus; its deficiency causes impaired virilisation due to defective conversion of testosterone to dihydrotestosterone and is an important cause of Disorders of Sexual Development (DSD). We report 3 cases of severe primary acquired auto-immune hypothyroidism, which show a similar picture of 5α-reductase deficiency (5ARD) on urine steroid profile (USP) and reversible following adequate thy...

Introduction: Diabetic ketoacidosis (DKA) can be easily confirmed with the triad of hyperglycaemia, metabolic acidosis and ketonaemia/ketonuria when suspected. DKA presenting as acute abdomen sometimes is well known, but not vice versa. We describe a rare presentation of acute abdomen with stress hyperglycaemia masquerading as DKA.Case Report: 2 year old boy presented with abdominal pain for 8 hours, vomiting & lethargy and tachypnoea & tachycard...