TURNER SYNDROME

What is Turner syndrome?

Turner syndrome (TS) is a genetic condition that occurs when a female infant is born with a missing or changed X chromosome. Chromosomes contain the genes that determine physical and developmental features. TS occurs in about 1 in 2,000-2,500 female births worldwide. The reason for the missing or changed X chromosome appears to be a random event. Thus, any girl can be born with TS.

What are the features and risks associated with Turner syndrome?

The features of TS can vary widely from patient to patient, so the condition may not be diagnosed until a girl reaches the age of puberty or even later. The most common features of TS are short stature and ovaries that do not produce hormones or ova (female eggs required for fertility). As adults, most women with TS are unable to become pregnant without medical help.

Apart from short stature, other physical features may include:

· eye problems (drooping eyelids,"lazy" eye)

· high palate (roof of mouth)

· small jaw

· low hairline at the back of the head

· wide and short neck, sometimes with an excess of skin that joins the neck with the collar bone (called "neck webbing")

· broad chest

· curvature of the spine (scoliosis)

· arms that turn out more than usual at the elbows

· missing 4th or 5th knuckle

· puffiness of the hands and/or feet (lymphedema)

· narrow fingernails

· knock knees

· increased numbers of moles on the skin

Girls and women with TS also are at risk for congenital (present at birth) abnormalities of the heart and kidneys, high blood pressure, chronic or recurrent middle ear infections, hearing loss, diabetes, and nonverbal learning disabilities (like difficulty with math). Other possible medical problems include overweight, cataracts and brittle bones. Their physical conditions, health concerns and infertility mean that some girls and women with TS are at risk of low self-esteem, anxiety, and depression.

How is Turner syndrome diagnosed?

Physical features may suggest TS, but the only reliable way to diagnose the condition is by a karyotype analysis. In this test, a blood sample is taken and looked at under a microscope to detect missing or altered chromosomes.

How is Turner syndrome treated?

Because TS is a genetic disorder, there is no cure, but some of its symptoms can be treated individually. Two options are: Growth hormone therapy. A synthetic form of human growth hormone is given by injection to most children with TS to increase their height. Treatment is usually started in the pre-school or early school years. Hormone replacement therapy. Most girls with TS need estrogen (hormone) therapy to develop the physical changes that ordinarily would occur at puberty (breast growth and menstruation). Estrogen is available as a patch, pill, or injection. After menstruation begins, a second hormone, progesterone, is added to ensure regular menstrual cycles.

What should you do with this information?

It is important to identify girls with TS early so that treatment can begin to promote normal growth and development. Parents should seek out a pediatric endocrinologist, an expert in hormone-related conditions in children. Regular doctor visits are necessary to monitor the effects of treatment and to test for possible health complications. Although TS is a lifelong condition, it can be successfully managed.