Turner Syndrome

Turner Syndrome: Overview Image

Turner syndrome, a rare disease that only affects females, stems from an abnormality in one of a girls X chromosomes, leaving her with only one fully functional X chromosome. As a result, girls with Turner syndrome (also known as Ullrich-Turner syndrome) tend to be sexually underdeveloped and infertile. Other common symptoms of Turner syndrome include a short stature and a webbed neck. About one in 2,500 girls has Turner syndrome.

While symptoms of Turner syndrome may be apparent at birth, the condition often isn’t officially diagnosed until puberty. One of the main reasons for delayed diagnosis is the fact that early symptoms, such as short stature, are often dismissed and attributed to delayed growth. Similarly, the sexual underdevelopment associated with Turner syndrome cant be identified until puberty.

Turner Syndrome versus Turner’s Syndrome

Turner syndrome, occasionally called “Turner’s syndrome,” is named for H.H. Turner, the doctor who discovered the disease in 1938.

Turner Syndrome: A Womans Disease

Humans have 23 pairs of chromosomes that contain the genetic information that determines our physical, mental and, at times, emotional characteristics. In fact, each human cell contains a single pair of sex chromosomes. While the pair of male sex chromosomes consists of a single “X” and a single “Y” chromosome, women, on the other hand, normally have two X chromosomes.

In women affected by Turner syndrome, one of the X chromosomes may be altered or missing altogether. This absence affects a girls estrogen levels, retarding and hindering her sexual development.

Male fetuses that miss the X chromosome don’t survive because a Y chromosome can’t function on its own. A single X chromosome can survive, however, and the resulting child is a girl with Turner syndrome. Currently, the exact cause of Tuner syndrome remains unknown.

Symptoms of Turner Syndrome

Those living with Turner syndrome typically experience symptoms that may include any of the following:

  • a hollow appearance to the chest
  • arms that are mildly turned out from the elbow to the wrist (when hanging loosely by a girls sides)
  • droopy” eyelids
  • lack of menstruation
  • lack of secondary sex characteristics
  • low hairline at the back of the head
  • short stature
  • webbed neck.

If a girl exhibits any combination of the above symptoms, doctors will generally perform a karyotype, a blood test that looks at the bloods chromosomal makeup to identify whether or not a girl is missing part of an X chromosome. Karyotypes are typically the most common test used to diagnose Turner syndrome.

Turner Syndrome Facts