Turner Syndrome: Symptoms, Causes, and Treatment

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Table Contents Definition Introduction Symptoms of Turner syndrome Causes of Turner syndrome Risk-Factors of Turner syndrome Complications of Turner syndrome Treatment of Turner syndrome Conclusion 2

Definition Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. 3

Introduction Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and appropriate care can help most girls and women lead healthy, independent lives. 4

Symptoms of Turner syndrome 5

Causes of Turner syndrome Monosomy. The complete absence of an X chromosome generally occurs because of an error in the father's sperm or in the mother's egg. This results in every cell in the body having only one X chromosome. Mosaicism. In some cases, an error occurs in cell division during early stages of fetal development. This results in some cells in the body having two complete copies of the X chromosome. Other cells have only one copy of the X chromosome. 6

Causes of Turner syndrome X chromosome changes. Changed or missing parts of one of the X chromosomes can occur. Cells have one complete and one altered copy. Y chromosome material. In a small percentage of Turner syndrome cases, some cells have one copy of the X chromosome and other cells have one copy of the X chromosome and some Y chromosome material 7

Risk factors of Turner syndrome The loss or alteration of the X chromosome occurs randomly. Sometimes, it's because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development. Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with Turner syndrome will have another child with the disorder. 8

Complications of Turner syndrome Heart problems. Many infants with Turner syndrome are born with heart defects or even slight abnormalities in heart structure that increase their risk of serious complications. Heart defects often include problems with the aorta, the large blood vessel that branches off the heart and delivers oxygen-rich blood to the body. High blood pressure. Turner syndrome can increase the risk of high blood pressure a condition that increases the risk of developing diseases of the heart and blood vessels. 9

Complications of Turner syndrome Autoimmune disorders. Turner syndrome can increase the risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. Skeletal problems. Problems with the growth and development of bones increase the risk of abnormal curvature of the spine (scoliosis) and forward rounding of the upper back (kyphosis). Learning disabilities. Girls and women with Turner syndrome usually have normal intelligence. 10

Complications of Turner syndrome Hearing loss. Hearing loss is common with Turner syndrome. In some cases, this is due to the gradual loss of nerve function Vision problems. An increased risk of weak muscle control of eye movements (strabismus), nearsightedness and other vision problems can occur with Turner syndrome. Kidney problems. Turner syndrome may be associated with malformations of the kidneys. 11

Complications of Turner syndrome Mental health issues. Girls and women with Turner syndrome may have challenges functioning in social situations, may experience anxiety and depression. Infertility. Most females with Turner syndrome are infertile. Pregnancy complications. Because women with Turner syndrome are at increased risk of complications during pregnancy, such as high blood pressure and aortic dissection, 12

Treatment of Turner syndrome Growth hormone. Growth hormone therapy usually given daily as an injection of recombinant human growth hormone is typically recommended to increase height as much as possible at appropriate times during early childhood until the early teen years. Estrogen therapy. Most girls with Turner syndrome need to start estrogen and related hormone therapy in order to begin puberty. Often, estrogen therapy is started around age 11 or 12 years. 13

Treatment of Turner syndrome Pregnancy and fertility treatment Only a small percentage of women with Turner syndrome can become pregnant without fertility treatment. Those who can are still likely to experience failure of the ovaries and subsequent infertility very early in adulthood. Some women with Turner syndrome can become pregnant with the donation of an egg or embryo 14

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Conclusion Turner's syndrome is a chromosomic disorder, a result of the partial or total absence of the second sexual chromosome. A relatively frequent alteration (1:2500 newborn girls), it presents a phenotypical variability which may cause a sub-diagnosis of its cases. 16

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