Turner Syndrome

Turner syndrome (TS) happens when one of the two X-chromosomes in individuals assigned female at birth is missing or partially missing. There are many different variations of TS. While TS is a genetic difference, it is not usually passed down from parent to child. It is a random event during the early stages of reproduction.

Turner syndrome affects about 1 in every 2,500 individuals assigned female at birth. People with TS can have a variety of different symptoms, including:

• Being shorter than individuals their age
• Heart conditions
• Problems with the ovaries that can affect a child’s ability to go through puberty and an adult’s ability to become pregnant
• Ear infections
• Abnormal shape of the palate of the mouth
• A fold of skin between the shoulder and the neck
• Breasts that do not develop
• Some differences in fingernails and elbows
• Learning difficulties in school
• Anxiety
• Hypothyroidism
• Celiac disease
  
  

Diagnosing Turner syndrome

Your child’s doctor will use blood tests to diagnose TS. Blood tests that show a missing or partially-missing X chromosome indicate TS. People can be diagnosed with TS at any age, from prenatally through adulthood.

Sometimes, non-invasive prenatal testing (a blood test on the mother and/or ultrasound) indicates the possibility of conditions like TS. Swelling of your child’s hands, feet, and/or neck at birth might alert your child’s doctor to the possibility of TS.

In older children, being shorter than other kids their age or not having any typical changes of puberty such as breast development and/or menstrual periods may lead to testing and diagnosis of TS. Adults who experience infertility (not being able to get pregnant), recurrent miscarriages or going through menopause before the age of 40 can also lead to a diagnosis of TS.

Related conditions

Turner syndrome can affect the development of many different parts of the body, but this varies among affected children, adolescents, and young adults. All children with TS are at risk of ovarian insufficiency, a condition that is associated with lack of pubertal development and infertility.

Other possible conditions include:

• Heart defects
• High blood pressure
• Frequent middle ear infections and hearing loss
• Weakness of eye muscle control
• Nearsightedness
• Kidney malformations
• Autoimmune disorders such as hypothyroidism and celiac disease
• Scoliosis
• Osteoporosis
• Learning difficulties, particularly with math
• Attention deficit disorder
  
  

Impact of Turner syndrome

Because Turner syndrome typically impacts the reproductive system, it’s important to understand how it might affect your child’s current and future health.

The ovaries have 2 primary functions. The first is to produce hormones such as estrogen that are necessary for physical development at puberty (development of breasts and the uterus and, eventually, menstruation). The second is the storage of oocytes (eggs) which allow for future pregnancy.

Most children with TS will develop ovarian insufficiency at an early age.  This means that most will need estrogen replacement for pubertal development, and most will not be able to have biological children (with their own eggs). Children with TS who have some cells with 2 normal X-chromosomes (mosaic TS), are less likely to have ovarian insufficiency. It is important to recognize, however, that some children with TS will start pubertal development such as breast development and later develop ovarian failure and will need hormone replacement therapy to have menstrual bleeding.

Fertility preservation

Some children and adolescents with TS may be candidates for fertility preservation. Although fertility preservation may allow them to have biological children (with their own eggs) in the future, there is no guarantee. Adolescents who are able to have menstrual periods without hormone therapy may be able to have their ovaries hormonally stimulated and their oocytes (eggs) retrieved and frozen for later use. 

The success rate is not known in individuals with TS because only 1 adult with TS has been able to have a baby using eggs that she had frozen as a young adult. Younger children may be candidates for ovarian cryopreservation (freezing an ovary for later use). However, this procedure is experimental because the long-term effects of surgically removing an ovary are unknown and so far, no person with TS who had this procedure done has been able to have a baby as an adult.

Treatment options

Children’s Mercy provides comprehensive care of children, adolescents, and young adults with TS through the Great HeighTS Clinic. This clinic brings together multiple specialists, including endocrinologists, cardiologists, and gynecologists, to provide individualized, expert care for each person with TS.

We are the first multidisciplinary Turner syndrome clinic in the United States. Other centers in the United States have modeled their clinics after ours.

We recognize that TS is a rare condition that affects each child uniquely. Your child’s care team will work closely to monitor for ovarian insufficiency, optimize hormone replacement therapy, and review potential options for fertility preservation.