Endocrine Abstracts

Leukaemia is the most common childhood cancer with an excellent 5-year survival rate of >80%, but many survivors face long-term health consequences. Low risk patients who were treated with chemotherapy-only are at risk of obesity and the metabolic syndrome. Endocrine and cardiometabolic abnormalities are common in high risk patients who required adjunct cranial irradiation and/or haematopoietic stem cell transplantation (HSCT) with/without total body irradiation (TBI). Gro...

Introduction: ABCC8 gene mutations cause transient and permanent forms of neonatal diabetes with variable modes of inheritance. Almost all patients present with diabetes under 6 months old with rare cases upto 12 months. We report 2 siblings with diabetes and identical homozygous mutations of the ABCC8 gene, one of whom presented classically under 6 months old and the other unusually at 3 years of age.Cases: The index case, a British Pakistani f...

Introduction: Bolus calculator glucose meters (BCGM) facilitate self-management of patients with type 1 diabetes (T1DM). However, their effectiveness is dependent on the accuracy of the data entered, use of their smart functions and adherence to the insulin dosages advised. This study investigates whether optimising the use of BCGM is associated with better glycaemic control in children and adolescents with T1DM, and obstacles to preventing their effective use.<p class="ab...

The PTEN gene is a tumour suppressor gene with high risk of breast, thyroid, endometrial, colorectal, kidney tumours and melanoma, mucocutaneous lesions, macular pigmentation, and macrocephaly. Germ line heterozygous pathogenic variants in this gene leads to a spectrum of disease now called PTEN hamartoma tumour syndrome (PHTS). Cowden syndrome (the predominant phenotype of PHTS) is estimated to affect 1:200,000 individuals - however it may be under-diagnosed. Guidelines for s...

Introduction: The ultimate goal of a diabetes transition service is to provide coordinated, uninterrupted and developmentally appropriate healthcare, which promotes skills in decision-making, communication, autonomy, and self-care, with an essential component required to achieve this, being adequate resourcing.Methods: Data from Yorkshire and South West London CYP diabetes networks were collected via questionnaire. The primary focus was to ascertain whic...

Introduction: Multiple endocrine neoplasia type 1(MEN1) is an autosomal dominant disorder resulting from pathogenic variant in tumour suppressor gene MEN1 and is characterized by parathyroid, pancreatic islet and anterior pituitary tumours. We describe an unusual case of MEN1 patient who presented with pancreatic neuroendocrine neoplasms (pNEN) prior to onset of puberty.Case report: A Caucasian boy with a diagnosis of ma...

Background: To assess whether the improved service provision introduced under the new Paediatric Diabetes Best Practice Tariff, which includes increased contact with the multi-disciplinary team and greater access to psychology support, has impacted positively on the quality of life (QoL) and glycaemic control of young people with diabetes.Method: In 2011, n=55 children and young people with diabetes completed the Generic Paediatric Quality of Li...

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...

Introduction: Phytoestrogens are derived from plants that are structurally and functionally similar to oestrogens. Their health benefits are widely extolled, although excessive consumption in children may cause adverse effects.Case 1: A 5.7-year old female presented with a one-month history of breast development and a 3-day history of vaginal bleeding. Prior to presentation, she was taking a health drink containing fennel and sesame seeds, in addition to...

Introduction: Hypoglycaemia is a rare side-effect of 6-mercaptopurine (6MP) with unclear mechanism(s). The occurrence of hyperinsulinism accompanying the hypoglycaemia is reported here for the first time in children on 6MP for acute lymphoblastic leukaemia (ALL).Case1: Caucasian female, diagnosed with ALL aged 4 years, was treated under UKALL2003 regime A. During an admission for neutropaenic sepsis, asymptomatic hypoglycaemia was noted pre-breakfast for...