Turner Syndrome: Research Activities and Scientific Advances

Turner syndrome affects women throughout their lives, with effects on growth and development as well as fertility and cardiovascular health. The NICHD is at the forefront of research on Turner syndrome and its effects on women's reproductive, cardiovascular, and psychosocial health.

Institute Activities and Advances

Institute research is aimed at understanding the impact of Turner syndrome during various stages of a woman's life, including as a newborn, child, adolescent, and a woman of childbearing age.

Much of this research is conducted by the NICHD's Section on Women's Health within its Division of Intramural Research (DIR). A main focus is the cardiovascular effects of Turner syndrome in women. Section research has shown that malformations of cardiac veins are more common than originally thought, occurring in more than 20% of women with Turner syndrome. Research also discovered a new abnormality of the aorta, common in up to half of women with Turner syndrome. The abnormality, called elongated transverse arch of the aorta, appears to put women at risk for aortic complications. Other topics of research on women with Turner syndrome include:

  • Characteristics that put these women at high risk for aortic dissection
  • Comparing the effectiveness of drugs to prevent dilation of the aorta
  • Psychosocial functioning (shyness, social anxiety)
  • The impact of infertility, childlessness, sex-steroid effects, and altered body image on social functioning
  • Hormonal and genetic aspects of gender-based differences in immunological, metabolic, and cognitive function

NICHD also supports research on Turner syndrome through the Fertility and Infertility (FI) Branch. Topics within this portfolio include:

  • The impact of Turner syndrome on neurodevelopment and neural function
  • Development of a new, low-cost newborn screening test for Turner syndrome to decrease the number of girls who are not diagnosed until age 10 or later

In addition, the FI Branch supports research on the genetics and epigenetics of reproduction. Much of this research has indirect implications for Turner syndrome. Topics include:

  • Identifying genes important for reproductive success and mutations that compromise fertility
  • Identifying genetic networks that influence reproductive development
  • Understanding gametogenesis, including the role of DNA methylation
  • Research on normal and premature reproductive aging
  • Research on polycystic ovarian syndrome, infertility, and cryptorchidism
  • The effects of assisted reproduction techniques on imprinting and methylation
  • The consequences of inactivation of the X chromosome

Other Activities and Advances

  • The NICHD led the Turner Syndrome Consensus Study Group in hosting an international, multidisciplinary meeting on Turner syndrome in 2006. The Group published clinical practice guidelines in 2007, Care of girls and women with Turner Syndrome: A guideline of the Turner Syndrome Study Group External Web Site Policy (PDF - 160 KB), to help guide health care providers in their care of those with the syndrome.
  • The Reproductive Medicine Network, established by the FI Branch in 1990, carries out large, multicenter clinical trials of diagnostic and therapeutic interventions for male and female infertility and reproductive diseases and disorders, including infertility related to Turner syndrome.
  • The National Centers for Translational Research in Reproduction and Infertility (NCTRI) (Formerly the Specialized Cooperative Centers Program in Reproduction and Infertility Research [SCCPIR]) is a national network of research-based centers, supported by the FI Branch, that aims to promote interactions between basic and clinical scientists with the goal of improving reproductive health.”
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