Turner Syndrome

Abstract

Turner syndrome (TS) affects approximately 1 out of every 1500–2500 live female births, with clinical features including short stature, premature ovarian failure, dysmorphic features and other endocrine, skeletal, cardiovascular, renal, gastrointestinal and neurodevelopmental organ system involvement. TS, a common genetic syndrome, is caused by sex chromosome aneuploidy, mosaicism or abnormalities with complete or partial loss of function of the second X chromosome. Advances in genetic and genomic testing have further elucidated other possible mechanisms that contribute to pathogenic variability in phenotypic expression that are not necessarily explained by monosomy or haploinsufficiency of the X chromosome alone. The role of epigenetics in variations of gene expression and how this knowledge can contribute to more individualized therapy is currently being explored. TS is established as a multisystemic condition, with several endocrine manifestations of TS affecting growth, puberty and fertility having significant impact on quality of life. Treatment guidelines are in place for the management of these conditions; however, further data on optimal management is needed.