About Turner syndrome

It can be overwhelming to learn that your daughter has been diagnosed with Turner syndrome (TS) , a rare genetic condition that impacts the reproductive system, heart and endocrine (hormone) system.

Wherever you may be on your journey, you can take comfort in knowing that our experienced and compassionate team is here to guide you every step of the way. And that first step is understanding the condition, including its causes, symptoms and treatment.

Is turner syndrome common in children?

Turner syndrome is very rare. It only affects 1 in 2,500 girls. TS can be diagnosed while you are still pregnant (in utero) or shortly after birth. A karyotype is a blood test that can count chromosomes. Your child will be diagnosed with TS if they have 45 chromosomes instead of the normal 46.

Causes of turner syndrome

Typically, a child is conceived with 46 chromosomes – 23 from the mother and 23 from the father. The 23^rd pair of chromosomes determines a child’s sex: One X chromosome from the mother and an X or Y chromosome from the father. Girls typically have two X chromosomes (XX). But in TS, they may be missing all or part of the second X chromosome. It is a random error that occurs when cells divide.

Types of turner syndrome

There are 2 types of turner syndrome: Monosomy X TS and mosaic TS.

About 50% of all girls who have TS will have monosomy disorder. This means that person will have 45 chromosomes instead of 46.

If your child has mosaic TS, the chromosome changes in some cells, but not all. Mosaic TS can affect any cell in the body and some have X chromosomes and some do not.

Mosaic Turner syndrome (TS) is a condition in which cells inside the same person have different chromosome packages. Mosaic TS can affect any cell in the body. Some cells have X chromosomes and some don’t. Every 3 out of every 10 girls with TS will have some form of Mosaic TS.

Signs of turner syndrome

Signs and symptoms of turner syndrome can vary based on the severity of the condition. Common signs include:

Amenorrhea (no menstruating)
Broad chest
Deep-set nails
Drooping eyelids and other abnormal eye features
Feeding difficulty as a baby
Low hairline on the back of the neck
Many small brown moles
Puffy hands and feet at birth
Shorter stature (average adult height of 4 feet, 7 inches)
Skeletal problems
Small jaw
Vision trouble
Webbed neck (wide neck with skin folds)
Widely spaced nipples

What can you do about turner syndrome?

There is no cure for turner syndrome, but there are many treatments and therapies to help manage its symptoms and complications, including:

Cardiac care (and sometimes surgery)
Early evaluation, interventions and treatments for social-emotional or cognitive issues
Estrogen replacement therapy
Fertility treatments
Growth hormones