Turner syndrome

Abstract

Turner syndrome occurs in 1 of every 2000 to 5000 live female births and is now recognized to encompass a broad range of chromosomal karyotypes and clinical phenotypes. Many of these individuals appear completely normal save for their short stature. This article reviews the major clinical and physiologic abnormalities that can occur and places special emphasis on the problems of short stature and gonadal failure. Evidence is reviewed that indicates that there is a potential for increased height with growth hormone treatment. Also discussed is the spectrum of gonadal function, ranging from the onset of spontaneous puberty and the potential for fertility to complete gonadal failure.