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, hormo...

In recent years there has been significant progress in defining the genetic aetiology of neonatal diabetes with disease-causing variants identified in over 30 genes. These genes are all recognised as having a critical role in the development, function, or destruction of the pancreatic beta-cell. Targeted next generation sequencing allows for the rapid, simultaneous screening of all 30 known neonatal diabetes genes. This analysis provides an accurate genetic diagnosis for over ...