Endocrine Abstracts

Background: Zoledronate is a nitrogen-containing bisphosphonate (BP) recognised for its antiresorptive potency. The pharmacokinetic/pharmacodynamic of zoledronate remains unclear. Although adverse events from overuse of BP is rare, there have been reports of over-treatment resulting in pathophysiological consequences. The current administration regimen is not tailored to the individual’s therapeutic response to zoledronate. Quantifying post-dose serum con...

Background: The active form of vitamin D, 1,25(OH)2D, plays a key role in regulating calcium and phosphorus metabolism and bone homeostasis. In paediatrics, maintaining optimal 1,25(OH)2D levels is crucial for supporting musculoskeletal growth. The hormone also serves as a diagnostic indicator for multiple disorders such as vitamin-D dependent rickets. Current Literature lacks comprehensive reporting of age-specific reference ranges in pa...

Objective: This systematic review aimed to identify and analyze skeletal muscle outcomes in patients with osteogenesis imperfecta (OI), a condition characterized by structural and metabolic abnormalities in skeletal muscle. Specifically, the review focused on assessing muscle mass and function using various imaging modalities.Methods: A systematic search was conducted in MEDLINE and EMBASE databases. Inclusion criteria c...

Background: X-linked hypophosphataemia (XLH) is a genetic condition that causes significant skeletal deformities and is associated with lifelong disability and pain. In October 2018, the NHS in England recommended burosumab, an anti-FGF23 antibody, for treating XLH with radiographic evidence of bone disease in children aged 1 year and over, and in young people with growing bones. The clinical and cost effectiveness of burosumab for treating adults with XLH is ...

Introduction: Metabolic bone disease of prematurity (MBDP) is a common condition in preterm and low birth weight infants, characterised by under-mineralisation of bone due to inadequate mineral supply, which can increase the risk of fractures. Screening is undertaken using biochemical markers, typically serum phosphate (PO4), alkaline phosphatase (ALP) and parathyroid hormone (PTH), although the objective clinical utility of these markers individually has not ...

Introduction: Stuve–Wiedemann Syndrome (SWS) is a rare genetic condition with autosomal recessive inheritance characterized by the association of typical facial appearances, skeletal manifestations including bowed legs and dysautonomia. Only two patients with long survival have been reported in 2001. We report three children whose periodic clinical evolution could be observed in our hospital until the age of 9 years. We report a case of SWS with associate...

Background: Infants born to mothers who are deficient in vitamin D are at risk of developing vitamin D deficiency and hypocalcaemia.We present a case report on infantile hypocalcemic seizures secondary to vitamin D deficiency followed by persistent hypomagnesemia.Case description: A 4-week-old term male baby born by uncomplicated pregnancy was brought due to acute onset seizures which terminated with IV lorazepam. He was...