Endocrine Abstracts

Background: Fibroblast growth factor 23 (FGF23) is a key protein in bone homeostasis regulatingserumphosphateand calcitriol (1,25(OH)2D3) concentrations. Analytical performance and reference ranges of FGF23 assays differ by molecule assayed (intact or C-terminal FGF23) and manufacturer. We aim to establish reference interval values for both cFGF23 and iFGF23 in a paediatric population.Methods: Writt...

Background: Glucocorticoid treatment is commonly used for Duchenne Muscular Dystrophy (DMD) in young people, but is associated with a high incidence of fragility fractures. This systematic review aims to assess the current evidence for pharmacological and non-pharmacological treatment for osteoporosis in children and adults with DMD, with the goal of guiding future management strategies.Methods: Three online databases (E...

Background: Osteoporosis commonly occurs as a result of long-term glucocorticoid use and muscle weakness in individuals with Duchenne muscular dystrophy (DMD), rendering them highly susceptible to fragility fractures of vertebrae and long bones. Existing clinical guidelines for the management of osteoporosis in DMD primarily focus on paediatric management. In particular, management during transition from paediatric to adult care is not clarified in current int...

Background: Achondroplasia, the most common skeletal dysplasia, carries a highest risk of developing foramen magnum stenosis (FMS), particularly in young children, leading to cervicomedullary compression and potentially fatal outcomes. Early detection of spinal cord changes through routine MRI screening can help reducing the morbidity and mortality in this population. Considering recent evidence, the bone team at Evelina London Children’s Hospital impleme...

Introduction: Pycnodysostosis (PYCD) is a rare autosomal recessive disorder caused by a mutation in cathepsin K (CTSK) gene resulting in increased bone density. The condition is characterised by short stature, acro-osteolysis of distal phalanges, osteosclerosis with increased bone fragility, dysplastic clavicula, delayed closure of sutures, mandibular hypoplasia, dental crowding and upper airway obstruction, causing obstructive sleep apnoea syndrome (OSAS). We...

We report a Pakistani family of three adults and five children affected with same disorder. An 8-year-old boy referred to us for the management of osteogenesis imperfecta according to mother he was not gaining height, increasing head size, and bowing of legs since the age of 2 years. He had dental caries and brittle teeth. Two of his maternal uncles and one maternal aunt were suffering from the same disease; their children also showed similar complaints. A paternal uncle and a...

Introduction: Hypoparathyroidism is an uncommon condition in children characterized by hypocalcemia and hyperphosphatemia due to defective synthesis /secretion of parathyroid hormone (PTH), end organ resistance or an inappropriately activated calcium-sensing receptor (CaSR). Clinical symptoms include muscle spasms, stridor, seizures, and syncope. It is rare for a child with this condition to present with cardiac failure at diagnosis. The therapeutic approaches...