Endocrine Abstracts

Objective: Deficits in skeletal muscle and function is a recognised feature of Osteogenesis Imperfecta (OI). Less is known about longitudinal change in body composition in OI. Our objective was to perform a retrospective analysis of longitudinal change in body with focus on lean mass and fat mass in children with OI.Methods: Data was collected from 29 children, with a diagnosis of OI, who had at least two DXA scans performed between 2015 and 2022. Assess...

Introduction: The occurrence of apparent epiphyseal dysplasia, which is a manifestation of untreated congenital hypothyroidism, was extensively documented in the 1940s. However, this condition has become rare in the past few decades due to the implementation of neonatal thyroid screening.Case Description: We present a case report of an 18-year-old adolescent male who presented to the emergency department with fever and altered sensorium. He had signs of ...

Objectives: Current international Care Considerations for Duchenne Muscular Dystrophy (DMD) recommend initiation of bisphosphonate following first fracture. Given the extent and burden of osteoporosis, some have advocated initiating therapy prior to fracture, although this is not standard practice. Our objective was to investigate the current clinical practice of clinicians managing osteoporosis and their opinion on treatment prior to fracture in DMD.Met...

Objectives: Delayed puberty is very common in glucocorticoid treated boys with Duchenne Muscular Dystrophy (DMD) and is an additional threat to bone health. The current International Care Considerations for DMD recommend consideration of testosterone for treatment of hypogonadism from the age of 12 years, supported by recent studies that show that testosterone treatment in DMD improves bone density. Our objective was to investigate the current clinical practice amongst clinici...

Introduction: Hypoparathyroidism is a rare paediatric emergency which presents with hypocalcaemia and signs such as tetany, spasticity and in certain cases, confusion, amnesia and high risk of arrhythmias.Case: We present the case of a 15-year-old boy, who came to the local emergency department with confusion, retrograde amnesia and lacerations due to presumed fall. He was previously fit and well, except a possible seizure witnessed by colleagues a year ...

Introduction: Breastfed infants are at risk of vitamin D deficiency because breast milk lacks sufficient vitamin D, particularly if the mother also has low vitamin D levels. Prolonged severe vitamin D deficiency leads to abnormal bone mineralization, resulting in rickets. After starting treatment, there is a risk of hungry bone syndrome due to remineralisation of the bones with significant increase in the bone’s uptake of calcium, phosphate, and magnesium.<p class="ab...