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What is Turner syndrome?

Turner syndrome, also known as monosomy X or mosaic Turner syndrome, is a genetic disorder that affects 1 in 2,000 newborn females at birth.

It causes growth failure before birth that continues into infancy and childhood, later emphasized by the absence of puberty. If left untreated, girls with Turner syndrome will usually achieve an adult height that is significantly shorter than that of their peers.

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What causes
Turner syndrome?

Each of us is born with two chromosomes. Males have one X chromosome and one Y chromosome; females have two X chromosomes. Females born with Turner syndrome have one normal X chromosome, while the other is either partially or completely missing.

Turner Syndrome is a congenital condition, meaning someone is born with it and it cannot be prevented. While genetic in nature, Turner Syndrome is not usually inherited.

Signs and symptoms

In addition to a noticeable lack of height, about 30% of girls with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, swelling of the hands and feet, skeletal abnormalities, or kidney problems. One-third to one-half of children with Turner syndrome are born with a heart defect.

Other physical traits associated with Turner syndrome include:



Lazy eye or
drooping eyelids

Many moles
on the skin


Missing knuckles
in a finger or toe

lower jaw

A teenage girl with her hair pinned back translates something sitting back to the lens of the doctor.
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Testing and Diagnosis

Turner syndrome may be diagnosed in pregnancy through amniocentesis, a form of prenatal testing. Otherwise, a child may receive a diagnosis soon after birth or at any time through childhood or adulthood, based on physical symptoms.

A genetic test called a karyotype analysis can confirm that one of the X chromosomes is fully or partially missing.

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Treatment for Turner syndrome should be tailored to the needs of a child’s specific symptoms and development.

Children with Turner syndrome often work with a team of doctors, including pediatricians, pediatric endocrinologists, and cardiologists.

Turner syndrome treatment often
focuses on hormones and may include:

Hormone Treatment

Injections of human growth hormone can increase height.

In the photo, two foams for injection of the drug Omnitrope.


Omnitrope is a human growth hormone treatment for growth hormone-related disorders, including Turner syndrome.


Estrogen therapy

Often, people with Turner syndrome need estrogen, a female hormone. Estrogen replacement can help girls develop breasts and begin menstrual periods, as well as improve brain development, heart and liver function, and skeletal health.

Cyclic progestins

These hormones are often added at age 11 or 12 to help induce menstrual periods.

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A group of children playing in the open air. In the foreground running with a smile teenage girl in a blue blouse and shorts of the same color. Behind her, in the background, other children running.


While their life expectancy might be slightly shorter than average, women with Turner syndrome can expect to live essentially normal lives with treatment of related conditions.


Health and support

Advocacy groups can provide information for you or for loved ones who have been diagnosed with Turner syndrome.

Questions about Omnitrope?


To learn more about Omnitrope and our comprehensive patient support services, see our FAQ page for frequently asked questions about Omnitrope.


Contact Us

You can also call our OmniSource team at the number below. We can walk you through the process of getting started with Omnitrope.

Available: Monday – Friday, 8AM – 8PM ET

Phone: 877-456-6794