Turner Syndrome

Turner Syndrome

Turner Syndrome

Turner Syndrome

Turner Syndrome, relatively common genetic disorder that causes abnormal growth development and infertility in females. Turner syndrome is characterized by certain physical features, including short stature, loose folds of skin on the neck, a small jaw, and a higher incidence of heart, kidney, and thyroid problems. Some individuals with the disease experience learning difficulties. There is no cure for Turner syndrome, but early diagnosis of the disease and continuous medical treatment throughout life can promote growth and effectively manage related medical conditions.

Turner Syndrome occurs in about 1 out of every 2,000 live female births. Girls with the disorder do not develop secondary sexual characteristics, the body changes, such as breast development, that occur during puberty. They typically have underdeveloped ovaries, which prevents the onset of menstruation and also contributes to infertility later in life.

Turner syndrome is caused by a partially or completely missing sex chromosome. Chromosomes are gene-carrying structures found within the nuclei of cells. In the human body, all cells except for sperm and egg cells contain 46 chromosomes arranged in 23 pairs. Of these, 22 of the pairs each consist of chromosomes that are almost identical, while the 23rd pair contains special chromosomes that determine the sex of the individual. The sex chromosome pair in healthy males contains an X and a Y chromosome, while the sex chromosome pair in females contains two X chromosomes. In a female born with Turner syndrome, part or all of one X chromosome in her sex chromosome pair is absent. Scientists do not know what causes this chromosomal abnormalityit apparently occurs randomly and is not linked to factors known to increase the risk of a birth defect, such as a pregnant woman's exposure to drugs, radiation, or disease-causing viruses or bacteria.

Doctors diagnose Turner syndrome based in part on the presence of characteristic physical features. A blood test, ideally given to a baby soon after birth, confirms the diagnosis by detecting the chromosomal abnormality. Early diagnosis followed by regular medical treatment throughout life can offset the most serious problems related to the disease. Treatment options may include regular injections of growth hormone to boost a girl's final adult height. Doctors may also prescribe treatment with the female sex hormone estrogen to promote the development of secondary sexual characteristics and maintain healthy bones. To combat infertility, women may become pregnant using in vitro fertilization, a procedure in which one or more donated eggs are fertilized outside the woman's body and implanted into her uterus.

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