Osteoporosis in children and adolescents: when to suspect and how to diagnose it

Abstract

Early recognition of osteoporosis in children and adolescents is important in order to establish an appropriate diagnosis of the underlying condition and to initiate treatment if necessary. In this review, we present the diagnostic work-up, and its pitfalls, of pediatric patients suspected of osteoporosis including a careful collection of the medical and personal history, a complete physical examination, biochemical data, molecular genetics, and imaging techniques. The most recent and relevant literature has been reviewed to offer a broad overview on the topic. Genetic and acquired pediatric bone disorders are relatively common and cause substantial morbidity. In recent years, there has been significant progress in the understanding of the genetic and molecular mechanistic basis of bone fragility and in the identification of acquired causes of osteoporosis in children. Specifically, drugs that can negatively impact bone health (e.g. steroids) and immobilization related to acute and chronic diseases (e.g. Duchenne muscular dystrophy) represent major risk factors for the development of secondary osteoporosis and therefore an indication to screen for bone mineral density and vertebral fractures. Long-term studies in children chronically treated with steroids have resulted in the development of systematic approaches to diagnose and manage pediatric osteoporosis.Conclusions: Osteoporosis in children requires consultation with and/or referral to a pediatric bone specialist. This is particularly relevant since children possess the unique ability for spontaneous and medication-assisted recovery, including reshaping of vertebral fractures. As such, pediatricians have an opportunity to improve bone mass accrual and musculoskeletal health in osteoporotic children. What is Known:• Both genetic and acquired pediatric disorders can compromise bone health and predispose to fractures early in life.• The identification of children at risk of osteoporosis is essential to make a timely diagnosis and start the treatment, if necessary. What is New:• Pediatricians have an opportunity to improve bone mass accrual and musculoskeletal health in osteoporotic children and children at risk of osteoporosis.• We offer an extensive but concise overview about the risk factors for osteoporosis and the diagnostic work-up (and its pitfalls) of pediatric patients suspected of osteoporosis.

New developments and therapies in pediatric endocrinology

“…The first example of translation into therapeutic advancement due to advances in knowledge is the development of drugs to increase bone mass as a result of increased knowledge of the key genes involved in the regulation of bone mass [1,2]. Genetic analysis of patients with osteoporosis or high bone mass conditions has paved the way for these advances.…”

Impact of gender-affirming treatment on bone health in transgender and gender diverse youth

“…Although DXA is considered the golden standard technique for the evaluation of BMD, it has the limitations of being a 2D technique, thus providing an areal density that can result in an underestimation of BMD in short bones. To overcome this limitation, the bone mineral apparent density (BMAD) can be calculated and represents an estimated volumetric BMD; however, it is not commonly used in clinical practice ( 53 , 54 ).…”

Bone Mineral Density and Bone Markers in Juvenile Idiopathic Arthritis Patients

“…A child's formative years are crucial for developing a robust musculoskeletal system. Genetic predisposition, organ function, chronic systemic illnesses, drug use, muscle abnormalities, and metabolic disorders are all known to affect bone structure and quality [1] . One of the most prevalent chronic inflammatory illnesses affecting children and teenagers under the age of 16 is juvenile idiopathic arthritis (JIA) [2] .…”