Endocrine Abstracts

Background: Infants presenting with life threatening hyponatraemia and hyperkalaemia present a diagnostic conundrum that can reflect abnormally low aldosterone production (e.g. congenital adrenal hyperplasia (CAH), renal resistance to aldosterone associated with infected urinary tract malformations or single gene disorders also associated with failure of the kidney to respond to aldosterone (pseudohypoaldosteronism). Although incidence figures for individual c...

Objectives: Hypophosphatasia (HPP) is a rare genetic disorder. Early diagnosis is challenging due to the disease’s complexity and low physician awareness.1 This study aimed to demonstrate how a digital health approach that scans electronic health records (EHR) may lead to earlier diagnosis of HPP.Methods: Patients with HPP were identified in the Optimum Patient Care Research Database (OPCRD), a UK database of 13.7 m...

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...

Introduction: Endocrine complications are common in patients with thalassaemia major. Currently, there is no literature studying the prevalence of endocrine abnormalities within a British cohort of children with transfusion-dependent thalassaemia. Existing literature is mostly based on Greek and other Mediterranean thalassaemia populations, and variations in local management guidelines may result in different clinical outcomes. This study aimed to audit recomm...

Endocrine presentation of a renal disorder. Baby boy born at full term with Birth weight of 4.3 kg and discharged the next day. Baby initially breastfed but losing weight. Advised combination feeding with expressed breast milk and formula milk. Even after increasing feed volume by health visitor baby losing weight. On Day 28 was admitted to the Children’s Assessment Unit following a health visitor referral. Baby had a 2 day history of abdominal discomfort and loose stools...

Introduction: The ESPE e-Learning web portal is a free, globally accessible online tool to enhance learning in Paediatric Endocrinology and Diabetes. Since August 2022, the e-learning content includes 30 accredited hours of ESPE/ISPAD e-learning Continuing Medical Education (CME) courses with ten core modules each in Paediatric Endocrinology, Paediatric Endocrinology in Resource Limited Setting (RLS) and Paediatric Diabetes. The CME modules were created by wor...