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First described in 1938 by Dr. Henry Turner, Turner syndrome (TS) is a condition that occurs in 1 out of every 2,000 females and is identified by a difference in the genetic makeup of those who are affected.


Most girls and women have two complete X chromosomes (the sex chromosomes for females). Turner syndrome is caused by the absence of all or part of the second sex chromosome in some or all of the cells of the body. The most consistent features of TS are short stature and lack of ovarian development; however, there are other symptoms and characteristics that can appear in varying degrees, depending on each person's unique genetic makeup.

Symptoms and Characteristics of TS

  • low set and prominent ears

  • small jaw

  • high, narrow mouth palate

  • neck webbing (short thick neck)

  • short stature

  • short teeth roots

  • turned up nails

  • lymphedema (puffy hands and feet)

  • infertility

  • chronic middle ear infections

  • hearing loss

  • distinctive heart, liver, and kidney abnormalities

  • autoimmune disorders such as under-active thyroid and celiac disease

  • difficulty with nonverbal communication skills, spatial relationships, such as driving or riding a bike, and executive functions

Turner syndrome is most often diagnosed during fetal life, in infancy,during the late pre-teen period (8-12 years), or in late adolescence/early adulthood. The age of diagnosis has been decreasing with better awareness of TS in the medical community.

The diagnosis of Turner Syndrome is made by a blood test called a karyotype. Karyotype analysis shows if one of the X chromosome pair is missing from the full chromosome set, or if there are any structural differences in the X chromosomes. 


Before birth, diagnosis of TS can be made by taking a sample of amniotic fluid or other fetal tissue to look at the fetal karyotype.  Ultrasound is also used to screen for patterns often seen in TS, such as fluid buildup around the neck, and kidney or heart abnormalities. 


Because ultrasound and maternal serum screening (blood tests) are not always 100% reliable, genetic karyotype testing is essential after the baby is born so that the diagnosis of TS can be confirmed.


There is a range of health, developmental, social, and learning challenges which might affect girls and women with TS to different degrees, so it is important to diagnose TS as early as possible.


Early diagnosis helps doctors determine whether the girl or woman has health issues that need treatment or need to be followed. 

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