Pediatric Turner Syndrome

Pediatric Turner Syndrome

Pediatric Turner Syndrome

Turner syndrome (TS) is a rare chromosomal condition caused by complete or partial absence of one of the two X chromosomes.


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What is Pediatric Turner Syndrome?

Turner syndrome occurs when all or part of one of the X chromosomes is lost before or soon after conception. The physical signs of TS can vary widely from patient to patient, so diagnosis sometimes occurs later in life. The most common features of TS are short stature and ovaries that do not work properly. Other physical features include eye problems and curvature of the spine (scoliosis).

This missing or incomplete chromosome prevents the female body from maturing naturally. Turner syndrome can cause a variety of medical and developmental problems, including short stature, failure to start puberty, infertility, and kidney and heart defects.  There is no cure for TS, but there are medical interventions to help reduce symptoms, such as:

  • Growth hormones to help reach close-to-average heights
  • Hormone replacement therapies to help with proper development


It is a rare condition, affecting approximately 1 out of every 2,500 female newborns.

What are the signs and symptoms of Pediatric Turner Syndrome?

Before birth:

  • A large collection of fluid on the back of the neck
  • Heart or kidney abnormalities

At birth, or during infancy and early childhood:

  • A wide or webbed neck
  • A receding or small lower jaw
  • A high, narrow palate
  • Low set ears
  • A low hairline at the back of the head
  • A broad chest
  • Short fingers and toes
  • Arms that turn outward at the elbow
  • Fingernails and toenails that are narrow and turned upward
  • Swollen hands and feet, especially at birth
  • Smaller than average height at birth
  • Delayed growth
  • Drooping eyelids
  • Heart and kidney defects

Older girls, teens, and young women:

  • A wide or webbed neck
  • Short stature, usually less than five feet tall
  • No growth spurts at expected times
  • Delayed or incomplete sexual development during puberty due to ovarian failure
  • Infertility
  • Learning disabilities, in some cases

How is Pediatric Turner Syndrome diagnosed?

Prenatal diagnosis of Turner syndrome is sometimes possible. If your doctor notices certain features in your unborn daughter – like a large collection of fluid on the back of the neck or heart or kidney abnormalities – he or she will take a sample of your blood to evaluate the baby’s DNA present there (karyotype).

To confirm the diagnosis, your doctor may perform:

  • Amniocentesis – taking a sample of amniotic fluid from your uterus
  • Chorionic villus sampling – removing a small piece of tissue from the placenta

If your daughter is not diagnosed in the womb, but doctors suspect Turner syndrome at birth, during infancy, or at any time during childhood, they will order a blood test called a karyotype, which shows the number and visual appearance of the chromosomes.

Some cases of Turner syndrome are not diagnosed until late childhood or the early teen years when girls aren’t showing typical signs of puberty and growth.

What are the causes of Pediatric Turner Syndrome?

Turner syndrome is a chromosomal condition that occurs randomly in live female births.

How is Pediatric Turner Syndrome treated?


  • Growth hormone therapy - increase her height as much as possible during her childhood and teenage years
  • Estrogen therapy - so that she can begin puberty and achieve adult sexual development

Follow up

  • Your daughter should have regular checkups to manage common Turner syndrome complications like hearing loss, high blood pressure, eye problems, diabetes, thyroid and musculoskeletal conditions.
  • Your daughter will also be referred to a cardiologist, who will monitor her heart with regular ultrasounds.
  • To maintain her optimal health, it is important that your daughter develops healthy lifestyle habits, including a nutritious diet and regular exercise.
  • Some women with Turner syndrome can eventually become pregnant with fertility treatment using donated eggs or embryos, but these pregnancies are usually considered high-risk.

Pediatric Turner Syndrome Doctors and Providers

Frequently Asked Questions

  • Is Turner syndrome fatal?

    No. Girls and women with Turner syndrome can lead full and productive lives with proper medical monitoring of any associated conditions, like heart valve abnormalities.

  • Is there any chance of fertility?

    Spontaneous pregnancy is rare in women with Turner syndrome, but there are available options for some women, such as in-vitro fertilization. Some girls and women are ‘mosaic’ and do not manifest as many of the typical features of the syndrome. In these instances, the chances of spontaneous pregnancy can be higher.

  • Where can I find more information/support for my daughter?

    The Turner Syndrome Society of the United States provides educational materials, resources for families, and information about support groups. Contact this organization, or ask your doctor about local peer and parent support groups.