Turner Syndrome: Information and Causes

Turner syndrome is a rare chromosomal condition (related to the X chromosome) that alters development in females. One of the two X chromosomes normally found in women is missing or incomplete.  Women with this condition tend to be shorter than average and are usually unable to have children because of an absence of ovarian function.

They are not able to conceive because of a problem with their ovaries. This condition occurs in about 1 in 2,500 female births worldwide, but is more common among pregnancies that do not survive, like miscarriages.

On the subject of the X chromosome, researchers have not found the genes that are responsible for most symptoms of Turner syndrome. They have, however, identified one gene called SHOX that is important for bone growth and development. When one copy of this gene is missing, it causes short stature and skeletal abnormalities in women, therefore causing Turner Syndrome.

Turner syndrome is not inherited in families. Although its exact cause is not known, it appears to be a result of a random error during the formation of either the eggs or sperm.

Achievement Center of Texas Turner Syndrome Center
via Randall Saisho on Thuglink

Symptoms of Turner Syndrome

One of the most obvious symptoms of Turner Syndrome is the short stature in girls. Girls appear shorter than average. For the first three years of their life, their height is normal, but overtime, they have a slow growth rate. At puberty, they do not have the usual growth spurt.

Another symptom of Turner syndrome includes non-functioning ovaries. Normally a girl's ovaries begin to produce sex hormones (estrogen and progesterone) at puberty. In most girls who have Turner syndrome, this of course does not happen. Neither do they start their periods or develop breasts without hormone treatment at the age of puberty.

More symptoms of TS Include:

  • Infertility
  • An especially wide neck (webbed neck) and a low or indistinct hairline
  • A broad chest and widely spaced nipples.
  • Arms that turn out slightly at the elbow.
  • A heart murmur
  • Tendency to develop High Blood Pressure
  • Minor eye problems, corrected by glasses
  • Scoliosis
  • Osteoperosis
  • Middle ear infections
  • Thyroid problems

For more information on symptoms, please click here.

How ACT Helps Those with Turner Syndrome

Overall, the two main features of Turner syndrome are short stature and the lack of the development of the ovaries. This is what will prompt the diagnosis. It can sometimes happen later if puberty does not occur.

Although there is no cure for TS, there are treatments and therapy that can help minimize symptoms, Achievement Center of Texas’ Turner Syndrome Center has a healthcare professional that can get you help that will meet your goals and needs.

Our center can also provides all of the physical and emotional support that we can give. We understand the importance of caring for your child with Turner Syndrome, and seeing to it that that child is liked just the same as someone that is not impacted by Turner Syndrome.