ESPE Abstracts

In XLH, excess fibroblast growth factor 23 (FGF23) causes hypophosphatemia and consequent rickets, skeletal deformities, and growth impairment. The efficacy and safety of burosumab, a fully human monoclonal antibody against FGF23, was evaluated in two Phase 2 trials in children with XLH. In CL201, 52 children with XLH (5–12 years old, Tanner ≤2) were randomized 1:1 to receive subcutaneous burosumab every 2 (Q2W) or 4 (Q4W) weeks, with doses titrated up to 2 mg/kg to...

Background: Pseudohypoparathyroidism type 1a (PHP1a) is characterized by Albright hereditary osteodystrophy (AHO) and multi-hormone resistance, most commonly to parathyroid hormone (PTH) and thyroid-stimulating hormone. This rare disorder is caused by inactivating mutations involving exons 1–13 of the imprinted GNAS gene that encodes the alpha-subunit of the stimulatory G protein (Gαs). Due to paternal imprinting of Gαs transcripts, GNAS mutati...

Background: Hypoparathyroidism (HP) is the most common first endocrinopathy in patients with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED or APS1), an autosomal recessive condition caused by mutations in the AIRE gene. Treatment of HP has not changed over the decades and parathyroid hormone is used only rarely.Aim: To describe clinical characteristics and course of HP in a cohort of patients with APECED and eva...

Purpose: To evaluate the efficacy of supervised Artificial Neural Network (sANN) in bone age assessment and compare the diagnostic performance of sANN-based TW3 skeletal maturity assessment on hand radiographs with that of experienced child endocrinologists.Materials and methods: This study developed an optimized artificial intelligence TW3 bone age assessment system by using the sANN and rating for the 20 hand bones (13RUS+7carpal) from A to I. 8332 of ...

Background: Extracorporeal shock wave therapy (ESWT) is widely used in the clinic for non-union of fractures. However, effect of ESWT on longitudinal bone growth has not been well studied. We explored the in vitro and in vivo effects of low/high dose radial shock wave treatment (SWT) on growth plate (GP) cartilage. A positive or negative effect on growth could be harnessed for therapeutic growth modulation while no change establishes safety.<p class="abst...

Context: Abnormal growth and short stature are observed in patients with mitochondrial disease but it is unclear whether there is a relationship between growth, stature and muscle phenotype.Objectives: To examine growth and final height in patients with genetically confirmed mitochondrial disease, to describe growth patterns in the principle underlying genetic subgroups and to establish whether stature is related to disease severity.<p class="abstext...