Turner Syndrome 2008Bondy C.A.
Developmental Endocrinology Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Md., USA
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.
Carolyn A. Bondy
National Institute of Child Health and Human Development
National Institutes of Health CRC 1-3330
10 Center Dr, Bethesda, MD 20892-1862 (USA)
Tel. +1 301 496 4686, Fax +1 301 402 0574, E-Mail email@example.com
Published online: January 21, 2009
Number of Print Pages : 5
Number of Figures : 2, Number of Tables : 0, Number of References : 19
Hormone Research (From Developmental Endocrinology to Clinical Research)
Vol. 71, No. Suppl. 1, Year 2009 (Cover Date: January 2009)
Journal Editor: Czernichow P. (Paris)
ISSN: 0301-0163 (Print), eISSN: 1423-0046 (Online)
For additional information: http://www.karger.com/HRE