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What is the diagnosis of Turner Syndrome?

By  ,  Onlymyhealth editorial team
Jul 24, 2014
4.8 / 5(4 Ratings)
Quick Bites

  • Turner syndrome affects females leading to an incomplete sex chromosome.
  • Some signs are visible at the time of birth.
  • Older girls experience absence of puberty.
  • The syndrome can be diagnosed during fetal development.

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What is Turner Syndrome?

Turner syndrome is a condition affecting only the females which results into a missing or incomplete sex chromosome. The condition can lead to many other medical and developmental conditions such as short stature, failure to begin puberty, infertility, heart problems, and learning disabilities.

The syndrome is diagnosed at an early stage, during infancy or early childhood. However, there can be a delay in diagnosis in adolescent girls or young women who show mild signs and symptoms.

Turner Syndrome Diagnosis

What are the Symptoms of Turner Syndrome?

In Infants

The signs and symptoms of the syndrome can differ significantly. In some cases, physical features and poor growth can be a sign of the syndrome in early age. Signs that can be seen during infancy or at birth include:

  • Widened or web-like neck
  • Receding or small jaw
  • High and narrow mouth roof
  • Low set of ears
  • Less hair on the back of the head
  • Drooping eyelids
  • Wide chest with wide space between nipples
  • Short fingers and toes
  • Outward tuning elbows
  • Swelling of hands and feet
  • Smaller height at the time of birth
  • Delayed growth
  • Sensitivity to noise

Turner Syndrome Diagnosis

In Older Girls

In some young girls, the signs and symptoms of Turner symptoms cannot be seen evidently. Symptoms in young women or adolescent girls include:

  • Short stature
  • Learning disabilities
  • Inability to understand to pick on social quos easily
  • Absent puberty due to ovarian failure
  • Sexual development that stalls
  • Early end to menstrual cycles not due to pregnancy

 

What is the Diagnosis for Turner Syndrome?

A diagnosis of the syndrome is sometimes made the development of fetus. Some features shown on an ultrasound show that the baby may be suffering from Turner syndrome or any other genetic problem affecting the development inside the womb. The mother may be asked to undergo few tests to diagnose the problem. One of these procedures may be undertaken:

  • Chorionic villus sampling
  • Amniocentesis

Image courtesy: Getty Images

Read more on Turner Syndrome.

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