Endocrine Abstracts

Background: Osteoporosis and vertebral fracture development are common in young people with Duchenne muscular dystrophy (DMD) and can lead to chronic back pain and reduced quality of life. The current standards of care recommend initiation of bisphosphonate treatment following identification of fractures. Given the extent of fractures in these young people, initiation of treatment prior to fractures seems logical. This study aimed to explore the opinions of young people with D...

Introduction: Sporadic primary hyperparathyroidism (sPHPT) is rare in children. There are few large cohorts characterising presentation, investigations and outcomes. Surgical practice is also changing; minimally invasive parathyroidectomy (MIP) and intra-operative parathyroid hormone (IOPTH) monitoring are being performed more frequently.Method: Retrospective casenote review of children with sPHPT who had parathyroidectomy between 1977-2022 at a single t...

Introduction: ADH1, caused by gain of function (GoF) variants in the Calcium Sensing Receptor (CASR), leads to hypoparathyroidism, hypocalcaemia, seizures, hyperphosphatemia, hypomagnesaemia, and severe hypercalciuria. Conventional treatment (alphacalcidol and calcium) can cause nephrocalcinosis, renal impairment and may not reduce seizures. Our previous data on six patients showed that CSPI via insulin pump increases serum calcium and reduces seizures, hospital admis...

Introduction: We present a case of severe hypocalcaemia in a 6-week-old baby, secondary to genetic hypoparathyroidism.Case report: A 6-week-old female presented with seizures. She is the first child to non-consanguineous parents of Asian-Pakistani ethnic origin. She was delivered at term and had an uneventful neonatal period. There was no family history of calcium disorders. Blood investigations showed low serum adjusted calcium of 1.26 mmol/l (2.2-2.6 m...

Background: The calcium sensing receptor (CaSR) plays a pivotal role in systemic calcium metabolism by regulating parathyroid hormone (PTH) secretion and urinary calcium excretion. Autosomal dominant hypocalcaemia type 1 (ADH1) is a disorder of extracellular calcium homeostasis caused by activating germline gain-of-function mutations of the CaSR.Case: A 13-year-old girl was referred from primary care with hypocalcaemia. She was under CAMHS for eating dis...

Introduction: We present the case of a 14-year-old boy with refractory hypercalcaemia secondary to Denosumab cessation. This case is unique due to his extensive treatment course and relapse during therapy.Background: Denosumab is a monoclonal antibody used in the treatment of osteoporosis, skeletal metastasis, and giant cell tumour of bone. In skeletally immature patients, studies have proven its effectiveness in suppressing bone resorption and alleviati...

Introduction: Achondroplasia, caused by a variant in the fibroblast growth factor receptor 3 (FGFR3) gene is the most common form of disproportionate short stature. It is associated with reduced life expectancy, but it is not clear to what extent cardiovascular disease (CVD) is responsible for this. As such, the primary aim of this systematic review was to identify the prevalence of cardiovascular disease in individuals with this condition.Methods: A sys...