Turner Syndrome

Woman with Turner syndrome at work.
Woman with Turner syndrome at work.

Basic Phenotype

Turner Syndrome (TS) occurs when there is only one copy of the X chromosome and occurs in about 1 in 2,500 newborn girls and affects each individual differently. Females with TS are usually infertile and shorter than average, , and other health conditions may include treatable heart defects (30-50%), minor physical features, skeletal differences, or kidney issues. Women with TS usually have an increased chance for learning disabilities. (Shankar et al. 2018)

Other Important Life Outcomes

  • “Growth hormone and low-dose estrogen therapy, beginning before the onset of puberty can increase the height and also neurocognitive and behavioral outcomes for women with Turner syndrome.” (Ross 2011) Advances in treatments have allowed girls with Turner syndrome to attain a normal adult height (over 5 feet). (Bondy 2007) Studies show that being short has no impact on adult quality of life, so families can talk to their doctor to make this decision based on what they prefer. (Carel et al. 1992)
  • “In-vitro fertilization is an option for some women with Turner syndrome-with the provision that they undergo a complete evaluation of their cardiovascular system, including magnetic resonance imagining, and do not show indications of cardiovascular issues such as a dilated aorta, history of coarctation, or bicuspid aortic valve disease.” (Hovatta 2006) Women with Turner syndrome may also choose other options for having children such as adoptions and surrogacy.
  • “Women with Turner syndrome usually have intellectual function in the normal range with standard varations, but they have relative weaknesses in visual-spatial, executive, and social cognitive domains.” (Hong et al 2011). Research shows that women with Turner syndrome often do well in school, including earning college degrees. (Gould et al. 2013) Speaking and reading are commonly strengths for them. (Mazzocco 2006) Most adults with TS function well and live independently.
  • Because some girls with Turner syndrome may have a hard time understanding social cues (like how to join a conversation), parents may need to get extra help for them to develop and grow their social skills. (McCauley et al. 2001) With support as needed, women and girls with Turner syndrome can make friends and enjoy meaningful relationships just like anyone else. (Gould et al. 2013)

Other Resource

Understanding a Turner Syndrome Diagnosis

References

  1. Shankar, R. K., & Backeljauw, P. F. (2018). Current best practice in the management of Turner syndrome. Therapeutic advances in endocrinology and metabolism, 9(1), 33-40.
  2. Ross JL, Quigley CA, Cao D, et al. Growth hormone plus childhood low-dose estrogen in Turner’s syndrome. N Engl J Med. 2011;364(13): 1230–1242
  3. Bondy, C.A. (2007). Care of girls and women with Turner syndrome: A guideline of the Turner Syndrome Study Group. J Clin Endocrinol Metab, 92(1):10–25.
  4. Carel JC, Ecosse E, Bastie-Sigeac I, Cabrol S, Tauber M, Léger J, Nicolino M, Brauner R, Chaussain JL, & Coste J. (2005). Quality of life determinants in young women with Turner’s syndrome after growth hormone treatment: results of the StaTur population-based cohort study. J Clin Endocrinol Metab, 90(4):1992-7.
  5. Hovatta O, Hreinsson J, Fridström M, Borgström B. Fertility and pregnancy aspects in Turner syndrome. Int Congr Ser. 2006;1298:185–189
  6. Hong DS, Reiss AL. Cognition and behavior in Turner syndrome: a brief review. Pediatr Endocrinol Rev. 2012;9(suppl 2):710-712
  7. Gould, H., BA, Bakalov, V., Tankersley, C., & Bondy, C. (2013). High levels of education and employment among women with Turner syndrome. J Womens Health (Larchmt), 22(3): 230–235.
  8. Mazzocco MM. The cognitive phenotype of Turner syndrome: Specific learning disabilities. Int Congr Ser. 2006;1298:83–92
  9. McCauley E., Feuillan P., Kushner H., & Ross J.L. (2001.) Psychosocial development in adolescents with Turner syndrome. J Dev Behav Pediatr, 22(6):360-5.