Turner Syndrome 2008

Background: Fetuses with prenatal diagnoses of 45,X Turner syndrome (TS) and abnormal fetal ultrasounds have poor prognoses for survival, but with modern medical management, those that do survive to birth may have good clinical outcomes. Fetuses with incidental diagnoses of mosaicism for 45,X associated with normal ultrasounds have a high survival rate and may have no or only mild features of TS.

Current Guidelines: At present, appropriate treatment for girls with TS may include growth-promoting therapy and pubertal induction with the dual aims of optimizing adult height and facilitating psychosocial adjustment. Current recommendations advocate mimicking normal physiology as much as possible, with use of microdose estradiol to initiate puberty. Healthcare providers should play a role in helping girls psychosocially adapt to ovarian failure. We now recognize there is an unacceptably high rate of premature mortality in adults with TS, mainly because of complications from congenital heart disease. Cardiac magnetic resonance imaging is recommended to screen for individuals at high risk for serious complications.