ESPE Yearbook of Paediatric Endocrinology

In Brief: This is a timely and well-written review on disorders of biomineralization and their fundamental mechanisms and by leading experts in the field. This is mandatory reading for any aspiring endocrinologist.Commentary: Biomineralization is a critical physiological process, and deviations from it can cause various diseases. Recent progress has furthered our understanding of the genetic, molecular, and cellular underpinnings of the disorders of biom...

In Brief: This comprehensive review classifies the known high bone mass (HBM) disorders based on Gene Ontology (GO) nomenclature. The authors emphasize the importance of functional genomics in the discovery of new HBM genes and discuss strategies to improve understanding of the underlying pathogenic mechanisms and inform the development of therapeutic approaches.Commentary: HBM disorders are typically defined by a high areal bone marrow density (BMD) <em...

In Brief: Osteogenesis imperfecta (OI) is a genetically and phenotypically heterogeneous disorder which leads to significantly reduced quality of life (QoL) and high morbidity primarily due to frequent fractures, musculoskeletal pain, reduced mobility and loss of ambulation. This meta-analysis shows that QoL is significantly lower in children and adults with OI compared to normative data and controls.Commentary: Quality of life (QoL) is a multidimensiona...

In Brief: Prolonged bisphosphonate treatment is associated with atypical femoral fractures (AFF). However, AFFs also occur in bisphosphonate-naïve patients, so bisphosphonate is not a prerequisite for AFF. This study found a higher yield of (likely) pathogenic variants in AFF patients with a clinical suspicion of monogenic bone disorder, stressing the importance of careful clinical evaluation of patients who present with this condition.Commentary: A...

In Brief: The 11th edition of the ‘Nosology’ is significantly expanded, now covering 771 conditions linked to 552 genes. In a major shift from previous editions, it has adopted a dyadic naming system that defines disorders based on both their phenotypic and genetic features. It continues to be a vital tool for diagnosing and communicating about genetic skeletal disorders.Commentary: The first Nosology of genetic skeletal disorders was published...

In Brief: Individuals with achondroplasia carry a lifelong burden of reduced physical and mental health. The Lifetime Impact of Achondroplasia Study in Europe (LIAISE; NCT03449368) found that, across an individual’s lifetime, achondroplasia is associated with multisystem complications, reduced QoL and functionality, increased pain and increased healthcare resource utilization.Commentary: Individuals with achondroplasia present with a range of clinic...

In Brief: Clinical symptoms of Pseudohypoparathyroidism (PHP) and related disorders present during late childhood and adulthood. This study found that newborns with this group of conditions require specific care at birth due to increased risk of neonatal complications.Commentary: Pseudohypoparathyroidism (PHP) and related disorders, newly referred to as inactivating PTH/PTHrP signalling disorders (iPPSD), are rare endocrine diseases. Their many clinical ...

In Brief: Hypophosphatasia is a clinically heterogenous disorder. By analysing observational data on 215 children (54.4% girls) with hypophosphatasia from the Global Hypophosphatasia Registry, the authors found growth impairment in patients aged <2 years. However, short stature was not a characteristic feature of children with hypophosphatasia, and height was not correlated with disease severity.Commentary: Hypophosphatasia is an inborn error of meta...