Pediatric and Adolescent Turner Syndrome

Turner syndrome (TS) is a genetic condition caused by complete or partial absence of one of the two X chromosomes. It is a rare condition, affecting approximately 1 out of every 2,500 female newborns.

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What is Pediatric and Adolescent Turner Syndrome?

Turner syndrome occurs when all or part of one of the X chromosomes is lost at 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.

What are the different types of Pediatric and Adolescent Turner Syndrome?

There are two types of Pediatric and Adolescent Turner Syndrome:

Pure Turner Syndrome

45, x – one X chromosome is missing

Mosaic Turner Syndrome

(i.e. 45x/46xx) – Patients may have milder to no physical stigmata, they may go through puberty normally, have menses, occasionally get pregnant, and may go through menopause prematurely

What are the signs and symptoms of Pediatric and Adolescent Turner Syndrome?

Before birth (if detailed prenatal ultrasound finds these):

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

At birth, or during infancy and early childhood, some (but not all) physical findings can include:

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:

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 and Adolescent 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 or amniotic fluid 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 and Adolescent Turner Syndrome?

TS is a rare genetic condition caused by partial or complete absence of one of the two X chromosomes.

How is Pediatric and Adolescent Turner Syndrome treated?

There is no cure for TS, but there are medical interventions to help reduce symptoms.

Medication

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 breast development
Combined hormone therapy eventually for bone health

In addition:

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.