低身長の小児における遺伝子検査に関する国際ガイドライン

Short stature may be caused by a multitude of conditions including genetic and non-genetic causes. Over the last decade, advances in genetic sequencing technologies have revolutionized our understanding of the underlying physiology of growth and greatly increased our ability to identify genetic etiologies of short stature. The current guideline provides a general overview of the approach to the evaluation of a child with short stature followed by recommendations identifying factors in the medical and family history, physical examination, radiographic, and laboratory work up which increase the likelihood of identifying a genetic etiology. An algorithm is proposed for the genetic work up of individuals with short stature based on their clinical presentation. The benefits and risks of genetic testing are discussed as well.