ESPE Yearbook of Paediatric Endocrinology

In brief: This systematic review, conducted by an international group of experts, provides an overview of the phenotype of patients with hypophosphatasia and proposes updated diagnostic criteria for this disease in children and adults.Commentary: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the alkaline phosphatase (ALPL) gene, which encodes the tissue nonspecific alkaline phosphatase (TNSALP) enzyme. Low alka...

In brief: This observational analysis, based on data from the Global Hypophosphatasia Registry, reports the clinical profiles, prior to initiation of asfotase alfa enzyme replacement therapy, in a large cohort of children with hypophosphatasia (n=151), by age (<6 months vs 6 months to 18 years) and geographic region (USA/Canada, Europe, and Japan).Commentary: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in th...

In brief: This article describes the functionalities of the Global ALPL gene variant classification project, which aims to reclassify variants of uncertain significance (VUS) in the ALPL gene and to continuously assess and update genetic, phenotypic, and functional variant information in hypophosphatasia.Commentary: Hypophosphatasia (HPP) is a rare genetic disorder caused by loss-of-function mutations in the alkaline phosphatase ( A...

In brief: This retrospective study reports on the relationship between serum phosphorus and fibrous dysplasia-related skeletal complications (fractures, orthopaedic surgery, and scoliosis) in a large cohort of patients (n=240).Commentary: Fibrous dysplasia (FD) / McCune-Albright syndrome (MAS) is a rare mosaic disorder caused by postzygotic gain-of-function mutations in Gαs, resulting in continuous receptor activation. FD can range from an isolated,...

In brief: The IMPACT Survey collected a comprehensive dataset (including demographics, clinical characteristics and clinical signs, symptoms and events and their impact) on the experience of individuals with osteogenesis imperfecta (OI) (n=2312 individuals across self- and proxy reports), and their caregivers (n=560). Individuals with OI reported numerous and evolving symptoms that affect their quality of life, notably pain and fatigue, which are consistently present.<p cl...

In brief: This up-to-date and very clear review describes the diagnosis and management of primary or secondary bone fragility in children and adolescents.Commentary: The field of bone fragility in children has evolved considerably in recent years, particularly in terms of diagnosis and management. This progress has been made possible in particular by the discovery of new genes involved in childhood-onset bone fragility, and also by a better understanding...