Turner Syndrome

What is Turner Syndrome?

Turner syndrome (TS) is a genetic female disorder that begins in the womb. It is very rarely inherited. Females usually have two x chromosomes, but in those with turner syndrome, one of the x chromosomes is partially missing or absent.

It affects approximately 1 in 2,500 females worldwide. It is not always diagnosed before birth or shortly thereafter. Sometimes it is not diagnosed until answers are sought for developmental delays and medical problems. Most women with Turner syndrome are infertile, but fertility treatments can be successful.

What are the Symptoms of Turner Syndrome?

One of the main characteristics of Turner syndrome is failure to grow.

Other symptoms of Turner syndrome include:

  • Abnormally wide neck or webbing of the neck
  • Unusually low ears
  • Low back hairline
  • Unusually small lower jaw
  • Abnormally broad chest with widely spaced nipples
  • Scoliosis
  • Swollen feet and hands
  • Narrow toenails and fingernails
  • Outward-pointing elbows
  • Unusual number of moles

Medical conditions that may be a result of Turner syndrome are:

  • Low thyroid
  • Type 2 diabetes
  • Kidney defects
  • Urinary tract infections
  • Ear infections that may lead to hearing loss
  • Osteoporosis
  • Heart problems
  • Hypertension
  • Visual spacial and motor skill difficulties
  • Infertility
  • Abnormal or absent menstrual periods
  • Aorta enlargement (rare)

Turner Syndrome Causes

Turner syndrome is caused by the absence of one X chromosome. The following genetically advanced conditions result in the Turner syndrome disease:

The mother’s egg or father’s sperm are responsible for donating an X chromosome to the baby. An error may occur that makes this not possible, hence the baby missing the X chromosome, and this causes Turner syndrome.

An error resulting from fatal developments can cause Turner syndrome and this is possible when you end up with one X chromosome and the other distorted. Some body cells will end up with complete copies of the X chromosome due to this fatality and another being distorted. The condition is normally referred to as mosaicism.

A condition can develop where certain cells possess a single copy of the X chromosome and others containing X and Y chromosome material. Turner syndrome may put the patient at risk of developing a cancer called gonadoblastoma. Individuals with Y chromosome material often develop as girls.

How is Turner Syndrome Treated?

The treatments for Turner syndrome depends on other medical conditions that are associated with the disorder.

Treatments include:

  • Growth hormone injections
  • Hormone replacement therapy
  • Treatment of other medical disorders and symptoms

Turner Syndrome Prevention

Turner syndrome can be prevented by doctors running various tests to determine the conditions of each of the chromosomes. Doctors also often perform prenatal screening as part of the prenatal testing to ensure there is no Turner syndrome condition.

In some cases, before babies are born, obstetricians engage the mothers to find out if they would like to have further tests to help the baby. There are two tests normally taken in case the mother accepts and these are amniocentesis and chorionic villus sampling. These tests ensure that the baby has a chance of safety from Turner syndrome.

Turner syndrome causes various complications on the baby and parents need to identify the right specialist for good care. It’s advisable to involve a family doctor into the team of care givers where there is possible.

Last Reviewed:
October 11, 2016
Last Updated:
September 10, 2017