Turner syndrome
Turner syndrome is a genetic condition that primarily affects females, characterized by the absence or alteration of one of the X chromosomes. It is estimated to occur in about one in every 2,500 girls and is not typically inherited. Common physical features include short stature, webbed neck, prominent ears, and puffy hands and feet, often noticeable at birth. Additionally, individuals with Turner syndrome may experience ovarian failure leading to infertility, incomplete sexual development, and various cardiovascular issues, including hypertension and heart defects.
Treatment options focus on managing symptoms rather than correcting the chromosomal abnormality. Hormonal therapies, such as human growth hormone and estrogen, can assist in growth and development, though many women may not menstruate or develop secondary sexual characteristics without intervention. Supportive therapies, including counseling and peer support groups, can also help address emotional and psychological challenges. Early diagnosis through genetic testing and monitoring of associated health conditions is crucial for improving outcomes and quality of life for those affected by Turner syndrome.
Turner syndrome
ALSO KNOWN AS: Gonadal dysgenesis, Bonnevie-Ullrich syndrome, 45 XO, monosomy X
ANATOMY OR SYSTEM AFFECTED: Cells, endocrine system, reproductive system
DEFINITION: A genetic condition in which cells are missing all or part of an X chromosome
CAUSES: Genetic defect
SYMPTOMS: Short stature, puffy hands and feet at birth, webbed neck, prominent ears, soft fingernails that turn up at end, ovarian failure leading to infertility and incomplete sexual development, cardiovascular problems
DURATION: Chronic
TREATMENTS: Hormonal therapy for some symptoms
Causes and Symptoms
Turner syndrome affects an estimated one out of every 2,500 girls born. The disorder is congenital, which means that it begins at conception. Males normally have one X and one Y sex chromosome. Normally, females have two X chromosomes. Females with Turner syndrome have only one X chromosome (an XO pattern) in each of their cells or two X with one being incomplete. Some women with Turner syndrome have both types of cells in their body, a condition known as "mosaicism." Although the exact cause is unknown, scientists believe that the disorder may result from an error during the division of the parent’s sex cells. It is not usually a heritable condition passed down through families.
Shortness is the most common feature of Turner syndrome. The average height of a woman with this condition is 4 feet, 8 inches. Other physical features associated with the syndrome include puffy hands and feet at birth, a webbed neck, prominent ears, a low hairline at the back of the neck, drooping eyelids, dry eyes, flat and broad chest, soft fingernails that turn up at the end, and vaginal dryness.
Ovaries may or may not develop in those with Turner syndrome, and most patients experience ovarian failure. Since the normally produce estrogen, girls and women with Turner syndrome lack or produce an inadequate amount of this essential hormone, resulting in infertility, incomplete sexual development, and increased risk of osteoporosis.
Cardiovascular disorders are the single source of increased in patients with Turner syndrome. Women with Turner syndrome are at higher risk of hypertension, renal abnormalities, type 2 diabetes, hypothyroidism, ear infection, diabetes, obesity, cataracts, and celiac sprue. Learning disabilities also appear to be more common among girls and women with Turner syndrome than in the general population.
Treatment and Therapy
No treatment is available to correct the chromosome abnormality that causes this condition. Nevertheless, early injections of human growth hormone (HGH) can restore much of the growth deficit. Low amounts of androgens may be administered along with HGH in affected girls older than eight years (when their bodies would normally produce these hormones) to assist in gaining height. Unless they take hormone therapy, women and girls with Turner syndrome typically will not menstruate or develop breasts and pubic hair. Hormone therapy also reduces the risk of bone loss. Although infertility cannot be altered, may be possible through in vitro fertilization and delivery through cesarean section. Girls and women with Turner syndrome should be monitored and treated for associated conditions.
Support groups, psychotherapy, and stress-relief activities can be beneficial for girls with Turner syndrome, who may have difficulty with self-esteem or other psychic-emotional problems related to their condition.
Perspective and Prospects
Turner syndrome was first identified by Henry Turner in 1938. In 1959, C. E. Ford discovered that a involving sex chromosomes causes the syndrome.
Turner syndrome can sometimes be found in utero on a routine ultrasound. Genetic testing, either by chorionic villus sampling during the first trimester or by amniocentesis during the second, can confirm whether a fetus has Turner syndrome. This can facilitate postnatal care for the child, such as monitoring for heart defects and resolving middle ear infections to prevent hearing loss.
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