Some children experience slow growth due to factors such as diet, emotional stress, or disease. For a small number of children and adults, their short stature is caused by a medical condition that either slows or stops growth. Norditropin® is used to treat some of these conditions.
What is Turner syndrome?
Turner syndrome is a genetic disorder in girls, which can cause short stature, ovarian failure, and certain health problems. It is a rare disorder, present in approximately 1 in 2,500 females.
What causes Turner syndrome?
Inside every cell of our bodies are 23 pairs of chromosomes, which contain the genes that control traits such as eye color, hair color, and height. Turner syndrome is caused by a problem with a particular pair of chromosomes—the ones that determine a baby’s gender. Normally, girls have two X chromosomes, while boys have an X and a Y chromosome.
If your daughter has Turner syndrome, one of the following may be the case:
She has only one X chromosome
She has two X chromosomes, but one has an abnormality in or is missing the part that affects physical development, height, and other characteristics
What are the physical features of Turner syndrome?
Turner syndrome may affect girls in different ways, but shorter-than-normal height is among the most common signs. In fact, more than 95% of adult women with Turner syndrome are shorter than average. Girls with Turner syndrome may start to slow down in their growth as early as 18 months of age, and continue to grow slowly through childhood.
Girls with Turner syndrome may share other common conditions:
Heart defects
Short neck with a webbed appearance
Low hairline at the back of the neck
Differently shaped, low-set ears
High-arched palate
Drooping eyelids
Short stature
Ovarian failure
Broad chest
Lymphedema (puffy hands and feet)
You won’t see all of these traits in every girl with Turner syndrome—but most do have ovarian failure.
Surprising fact: Short stature in girls with Turner syndrome is not due to a lack of growth hormone, but, for unknown reasons, the girl does not respond to the growth hormone she makes herself.
What about puberty?
Puberty is the time when a child’s body matures into an adult body. For girls with Turner syndrome who have ovarian failure, puberty doesn’t happen naturally on its own. And, they typically don’t experience the growth spurt that often accompanies puberty. Often, it’s the absence of this growth spurt or delay in puberty that may prompt a doctor to look for the presence of a condition that is preventing normal growth.
How is Turner syndrome diagnosed?
About one-third of patients with Turner syndrome are diagnosed as newborns due to puffy hands and feet (lymphedema) or thicker-than-normal neck skin. Another third are diagnosed in mid-childhood by their short stature, and other patients are diagnosed in adolescence when they fail to enter puberty or as adults because of recurrent pregnancy loss.
To diagnose Turner syndrome, your child may be referred to a pediatric endocrinologist, a doctor who specializes in hormone diseases in children. The pediatric endocrinologist will do a blood test to examine her genetic makeup. This test, called a “karyotype,” arranges the chromosomes to identify any that are missing. It also tells which are abnormally shaped or have missing pieces.
Puffy hands and feet
Thick neck skin
Short stature
Failure to enter puberty or recurrent pregnancy loss in adulthood
Puffy hands and feet
Thick neck skin
Short stature
Failure to enter puberty or recurrent pregnancy loss in adulthood
After the diagnosis.
After diagnosing your child with Turner syndrome, your child’s pediatric endocrinologist may recommend a treatment such as growth hormone, and will likely ask for regular follow-up visits to monitor your child’s growth and make sure that treatment is working well.
Parents and caregivers can find community, support, and educational resources through growth-related patient advocacy groups. Visit the Turner Syndrome Foundation and Turner Syndrome Society to learn more.
Find support.
Parents and caregivers of children with growth disorders can find support, community, and education through growth-related patient organizations, such as the MAGIC Foundation.
Norditropin® stories.
Learn more about what life is like for families whose children are being treated with Norditropin®.