About Turner Syndrome

What is Turner syndrome?

Turner syndrome (TS) is a genetic disease that only affects females (about one in 2,000 worldwide). Normally, most cells in a girl's or woman's body contain two X chromosomes, whereas those of males have one X chromosome and one Y chromosome. These chromosomes are often referred to as sex chromosomes because the genes on these chromosomes determine the sex of a person. TS occurs when a female is missing all or part of one of her X chromosomes. This leads to many different symptoms; some of which include:

• Short stature
• Slowed development of the ovaries
• A webbed neck
• Increased possibility of cardiovascular, kidney, and thyroid problems
• Potential for skeletal disorders and hearing problems

The exact cause of Turner syndrome is not known and currently there is no cure; however, many of the symptoms of the disease can be managed with treatment.

Why are girls with Turner syndrome short?

The most common feature of TS, abnormally short stature, affects nearly 100% of girls with TS. The missing or incomplete X chromosome contains a gene that helps children grow to a normal height. From birth through their teen years, girls with TS grow more slowly than healthy children. The average adult height of healthy women is 5'4" while women with TS average about 4'8" unless they receive growth hormone treatment.

How does Nutropin therapy help?

When tested, growth hormone levels may appear normal in girls with TS, yet studies have shown that growth hormone therapy improves growth despite this fact. For this reason, your healthcare provider may not feel the need to test your daughter's growth hormone level. Nutropin treatment can help many girls with TS reach their full growth potential, increasing their average adult height.

When should my daughter begin Nutropin therapy?

Nutropin and Nutropin AQ are indicated for the treatment of TS. Treatment often begins when a child's height falls below the 5th percentile on the normal growth curve for females (in other words, 95% of children her age are taller than she). For girls with TS, this often happens between the ages of 2 and 5. Starting Nutropin therapy early provides the greatest potential for growth.

Will my child need other medications?

Your child may need other medications and, unless your healthcare provider tells you otherwise, they should not be stopped while your daughter is on Nutropin therapy. There are many other medications that girls with TS may have to take. For example, the steroid, oxandrolone is sometimes included with growth hormone treatment to help maximize growth. Most girls with TS will also need estrogen replacement therapy to help keep their bones strong and to maintain (or begin) sexual development.

And because girls with TS are at risk to develop thyroid abnormalities, thyroid medication may be needed as well. Remember to list all of the medications your daughter takes when talking with her healthcare provider.

How long will my child have to take Nutropin therapy?

Healthcare providers recommend continuing growth hormone therapy until a satisfactory height is reached or until there is evidence that your daughter will not grow more. If treatment is stopped too early, your daughter may not reach her full growth potential. When a girl enters puberty, her body starts to produce more estrogen, which promotes bone fusion and stops bone growth. Therefore, it is important for you to discuss puberty and estrogen replacement with your healthcare provider. Estrogen replacement therapy should be timed to limit this potential negative effect on growth, yet still allow for puberty to occur at a normal age.

Does Nutropin therapy have to be given at any special time of day?

In healthy girls, growth hormone levels usually peak during the night. So to mimic this normal pattern, healthcare providers generally recommend giving Nutropin therapy in the evening. Your healthcare provider will review your child's treatment plan—taking into account the other medications she's taking—and determine the best time of day to give your child her injection.

Will Nutropin therapy be covered by insurance?

The FDA approved Nutropin for girls with TS in 1996. It is generally covered by insurance, though documentation from the healthcare provider's office is needed. Genentech has created a resource, www.NutropinAccessSolutions.com, to assist you in the process of obtaining authorization.

Special safety information for patients with Turner syndrome:

Patients with TS should be evaluated carefully for middle-ear infection and other ear disorders, since these patients have an increased risk of having both problems.
Patients with TS should be monitored closely for cardiovascular disorders.

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