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Genetic, Chromosomal & Metabolic Conditions

Turner Syndrome

Lea este articulo en EspanolTurner syndrome, a medical disorder that affects about 1 in every 2,500 girls, is a genetic condition in which a female does not have the usual pair of two X chromosomes. Girls who have this condition usually are shorter than average and infertile due to early loss of ovarian function.

About Turner Syndrome

Turner syndrome (TS) was first described in 1938 by Dr. Henry Turner, an endocrinologist, who noted a set of common physical features in some of his female patients. It is the result of a chromosomal abnormality in which a female infant is born with only one X chromosome (instead of two) or is missing part of one X chromosome.

In most cases, untreated females with this disorder are short in stature (average final adult height is 4 feet 7 inches) and may have a variety of related physical features and medical problems.

Because females with TS don’t have proper ovarian development, they usually don’t develop all of the secondary sexual characteristics (the physical changes or features that usually develop at puberty) during adolescence and are infertile (the inability to become pregnant) as adults. However, advances in medical technology, including hormonal therapy and in vitro fertilization, can help women with this condition.

Other health problems that may happen with TS include kidney and heart abnormalities, high blood pressure, obesity, diabetes mellitus, vision problems, thyroid problems, and abnormal bone development.

Girls with TS usually have normal intelligence, but some may experience learning difficulties, particularly in mathematics. Many also have a problem with tasks requiring spatial skills, such as map reading or visual organization. Hearing problems are also more common in girls with Turner syndrome.

Although they aren’t at increased risk for psychological problems, some girls do have problems with body image or self-esteem and some also might be hyperactive.

Despite these physical differences and other problems, with appropriate medical care, early intervention, and ongoing support, a girl with Turner syndrome can lead a normal, healthy, and productive life.

Diagnosing Turner Syndrome

During a physical examination, a doctor may look for certain physical features of Turner syndrome, which can include:

  • short stature (below-average height)
  • “webbing” of the skin of the neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck)
  • a low hairline at the back of the head
  • low-set ears
  • abnormal eye features, including drooping of the eyelids
  • abnormal bone development, especially the bones of the hands and elbows
  • a lack of breast development at the expected age (usually by age 13)
  • an absence of menstruation (amenorrhea)
  • a larger than usual number of moles on the skin

Girls with TS can vary widely in their characteristics or symptoms. Some have many features or symptoms; others have only a few.

A special blood test that looks at chromosomes — a karyotype — is used to diagnose Turner syndrome. Several physical characteristics may be noted at birth, which can alert a doctor to the possibility of TS and prompt him or her to order a karyotype. Results that indicate Turner syndrome show 45 chromosomes instead of the normal 46. In some girls with TS, two X chromosomes are present, but one is misshapen or missing a piece.

Treating Turner Syndrome

Because TS is a chromosomal disorder, there’s no cure for the condition. However, a number of treatments can help:

  • Growth hormone, either alone or with other hormone treatment, may improve growth and will usually increase final adult height — often into the normal range if treatment is started early enough. The U.S. Food and Drug Administration (FDA) has approved growth hormone for the treatment of Turner syndrome, and most insurance plans now cover this special treatment.
  • Estrogen replacement therapy is often started when the girl reaches 12 or 13 years of age to stimulate the development of secondary sexual characteristics (breast development and menstrual periods). This therapy will not reverse infertility, however.
  • Cardiac surgery may be necessary to correct specific heart defects.
  • Recently developed reproductive technologies can help women with Turner syndrome become pregnant. Fertilized donor eggs can be used to create embryos, which can be inserted into the uterus of a woman with TS. With the help of hormone treatment, the woman can carry a developing fetus to term.

Learning Differences

Most girls with Turner syndrome have normal intelligence. However, some have learning problems, and early consultation with a developmental pediatrician may help them.

Girls with TS can be screened to determine whether cognitive problems may affect their education. Also, a special set of tests (called psychoeducational evaluation) can identify specific problems. A girl’s doctor can help determine whether this testing is appropriate for her.

The Turner Syndrome Society of the United States stresses the importance of assessing a girl’s intellectual, learning, motor skills, and social maturity before enrolling her in kindergarten. If learning problems are identified, early preventive and intervention strategies, if needed, can help.

If Your Daughter Has TS

Although your daughter may have specific medical problems and different physical characteristics due to Turner syndrome, you can do many things to help her develop daily living skills and cope with new or challenging situations. Note: height-related issues may be less important to girls who have improved growth with growth hormone treatment.

  • Follow her lead regarding how much information she wants to share with others. Make sure she knows the facts and then allow her to explain TS to her friends and relatives, if she wants.
  • Treat her according to her age (not her size) when considering the amount of responsibility given to her and the types of social activities she enjoys.
  • Arrange your home so that it’s comfortable for her (provide sturdy footstools in the bathroom and kitchen and easy access to clothing, closets, personal care items, and other necessities). Kitchen chairs or stools that have rungs are especially helpful, as it can be tiring for her if her feet don’t reach the floor.
  • Carefully assess her classroom environment. Ask for help from teachers to provide appropriate accommodations in the classroom so that she can reach water fountains, classroom materials, and supplies. The same suggestions apply to the school’s library and gymnasium.
  • Help her cope with new situations and encourage her to ask her friends for help, too.
  • Compliment her often on her strengths and coping skills. Be patient, positive, and open to discussions about her limitations and fears.
  • Allow her to try on different clothing styles until she finds what flatters her or suits her personality. This can help build a more positive body image and self-esteem.
  • Encourage participation in activities in which height isn’t an issue, such as skating, diving, horseback riding, babysitting, or volunteer work. Volunteering, in particular, can be a big confidence booster.
  • If she is depressed or having problems with her self-esteem, consider counseling and treatment by a mental health professional. Don’t ignore your gut instinct if you think she’s sad or withdrawn.
  • Take care of yourself. You won’t be able to provide good care for your daughter if you neglect your own needs. Your community may offer TS support groups or you may want to join the Turner Syndrome Society of the United States. Or consider starting your own support group for parents.

Remember that although Turner syndrome can affect your daughter in many ways, it’s only a small part of her total physical, emotional, and intellectual being.

Don’t hesitate to enlist the help of her doctor, developmental pediatrician, or other medical specialists and mental health professionals. And don’t let your daughter’s diagnosis or medical problems define who she is.

Reviewed by: Elana Pearl Ben-Joseph, MD
Date reviewed: October 2014
Originally reviewed by: Judith Ross, MD