Genetics, Gonadal Dysgenesis

Gonadal dysgenesis is the name given to any of a multitude of conditions that can cause impaired development of the gonads, i.e., the testes or ovaries . The most notable of these conditions is Turner syndrome, a disorder affecting 1 in every 2500 live female births, with an array of associated symptoms and complications . Although there are many syndromes of which gonadal dysgenesis is a component, this article will focus on Turner syndrome, 46, XX, 46, XY, and mosaic forms of gonadal dysgenesis. Understanding the genetics behind gonadal dysgenesis allows clinicians to better predict the disorder’s phenotypic presentation, in turn, improving both screening methods for associated medical problems and the ongoing care of those medical problems. This article will explore the cellular, biochemical, and molecular basis behind the genetic processes that cause gonadal dysgenesis and study the clinical implications of this subset of disorders.