Some patients with Turner syndrome have a karyotype showing mosaicism. This article describes the case of a boy with 45,X0/46,XY mosaicism, often referred to as mixed gonadal dysgenesis, who was evaluated for short stature. Different types of Turner syndrome mosaicism and their associated phenotypes, as well as the management of short stature in these patients, are discussed.
- Christina M Jacobsen
- Laurie E Cohen
