Endocrine Abstracts

Children referred to paediatric endocrinology clinics have variable degrees of short stature and growth failure. There is a wide range of potential aetiologies ranging from normality to an abnormal growth pattern which will lead to adult height below the target height range. Early investigation and diagnosis of short stature is important to prevent delays in the access to appropriate therapies which will improve final height. Genetic variants impacting cellular pathways, hormones and growth factors can result in short stature and a significant proportion of short patients presenting to clinic remain undiagnosed despite extensive investigation. Genetic testing of children with short stature has led to the identification of new causes of short stature, clarified the physiology of human growth and can indicate the correct therapeutic approach. The investigation of short stature patients should combine clinical assessment, endocrine evaluation and genetic sequencing. It is important for clinicians to understand the genetic tools available and their interpretation.