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What is Turner Syndrome?
Dr. Henry Turner first described Turner syndrome (TS) in the 1930s. TS occurs only in females, affecting one of every 2,000 female newborns. Caused by loss of part or all of one X chromosome in some or all cells of the body, TS is rare. However, it is the most common condition affecting the female sex chromosome. Turner syndrome patients may not show any signs at all; however, some patients do have certain outward and inward signs of the syndrome.

The hallmarks of Turner syndrome are short stature and underdeveloped ovaries. People with this condition may also be predisposed to cardiovascular, kidney, and thyroid problems. Although there is no cure for TS, its symptoms may be minimized with the proper treatment.

References
Lifshitz F, ed. Pediatric Endocrinology. 4th ed. New York, NY: Marcel Dekker Inc; 2003.

Lippe BM, Saenger PH. Turner syndrome. In: Sperling MA, ed. Pediatric Endocrinology. 2nd ed. Philadelphia, PA: Saunders. 2002:519-564.

Saenger P, Wikland KA, Conway GS, et al. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab. 2001;86:3061-3069.

Wilson JD, Foster DW, Kronenberg HM, Larsen PR, eds. Williams Textbook of Endocrinology. 9th ed. Philadelphia, Pa: WB Saunders; 1998.


Signs of Turner Syndrome
Girls with Turner syndrome may exhibit certain physical and anatomical abnormalities, particularly short stature and underdeveloped ovaries. Other physical characteristics of females with TS may include a short, thick neck; arms that turn out slightly at the elbows; and a low hairline at the back of the head.

However, it's important to note that growth failure may be the only outward sign of TS. Over time, cardiovascular, kidney, thyroid, ear, and skeletal problems may also arise, but these conditions vary among individuals.

Outward symptoms of Turner syndrome may be easy to see:

  • Short stature
  • Webbing of the neck
  • Low-set, rotated ears
  • Arms that turn out slightly at the elbows
  • Low hairline at the back of the head

Internal signs of Turner syndrome may be harder to identify:

  • Not reaching sexual maturity
  • Menstruation not starting
    • Poorly developed ovaries
  • Joint and bone problems
  • Thyroid problems
  • Swelling of the hands and feet
  • Kidney problems
  • Heart problems
  • Repeated ear infections
  • Infertility
  • A high, arched palate in the mouth
References
Lifshitz F, ed. Pediatric Endocrinology. 4th ed. New York, NY: Marcel Dekker Inc; 2003.

Lippe BM, Saenger PH. Turner syndrome. In: Sperling MA, ed. Pediatric Endocrinology. 2nd ed. Philadelphia, PA: Saunders. 2002:519-564.

Saenger P, Wikland KA, Conway GS, et al. Recommendations for the diagnosis and management of Turner syndrome. J Clin Endocrinol Metab. 2001;86:3061-3069.

Wilson JD, Foster DW, Kronenberg HM, Larsen PR, eds. Williams Textbook of Endocrinology. 9th ed. Philadelphia, PA: WB Saunders; 1998.


Diagnosing Turner syndrome
Because it is a genetic syndrome, TS must be diagnosed at the genetic level. Normally, girls have two X chromosomes (the sex chromosomes) in each cell. Girls with TS have either a missing or an incomplete X chromosome.

TS is usually diagnosed by a special blood test called a karyotype, which is used to look for damaged or missing chromosomes.


Frequently Asked Questions
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 Primatropin 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. Primatropin treatment can help many girls with TS reach their full growth potential, increasing their average adult height.

When should my daughter begin Primatropin therapy?
Primatropin and Primatropin 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 Primatropin 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 Primatropin 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 Primatropin 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 Primatropin 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 Primatropin 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.

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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