Genetics of Osteoporosis in Children.

In the pathogenesis of paediatric osteoporosis, genetic causes may play an important role. The most prevalent monogenic cause of paediatric osteoporosis is osteogenesis imperfecta, a disorder characterised primarily by liability to fractures. With regard to diagnosis or exclusion of a monogenic cause of paediatric osteoporosis, clinical practice has changed rapidly in recent years. This is largely due to the discovery of many new genetic causes in patients with a clear clinical diagnosis of osteogenesis imperfecta but also due to the identification of genetic causes in patients with isolated or non-syndromal osteoporosis with fractures. In this chapter, known monogenic causes of syndromal and non-syndromal osteoporosis in children will be described. Furthermore, we will discuss when to refer for clinical genetic evaluation as well as the current and future merits of genetic evaluation of children with osteoporosis.