Turner`s Syndrome

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Overview

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.

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.

Symptoms

The main symptom of Turner syndrome is short stature. Almost all females with TS:

Grow more slowly than their peers during childhood and adolescence.

Have delayed puberty and lack of growth spurts, resulting in an average adult height of 4 feet, 8 inches. (If diagnosed early, growth hormone can help the person reach near-normal height).

Another symptom is not experiencing typical sexual development. Most females with TS:

Don't experience breast development.

May not have menstrual periods.

Have small ovaries that may only function for a few years or not at all.

Typically don't go through puberty, unless they get hormone therapy in late childhood and early teens.

Don't make enough sex hormones.

Besides short stature, females with Turner syndrome often have certain physical traits:

Broad chest.

Cubitus valgus, where the arms point out slightly at the elbows.

Dental problems.

Eye problems, such as a lazy eye or drooping eyelids.

Scoliosis, when the spine curves sideways.

Low hairline at the back of the neck.

Many skin moles.

Missing knuckle in a particular finger or toe, making the digit shorter.

Narrow fingernails and toenails.

Small lower jaw.

Swelling of the hands and feet.

Unusually short, wide neck or webbed neck (extra skin folds).

Causes

Most people are born with two sex chromosomes. Males inherit the X chromosome from their mothers and the Y chromosome from their fathers. Females inherit one X chromosome from each parent. In females who have Turner syndrome, one copy of the X chromosome is missing, partially missing or changed.

The genetic changes of Turner syndrome may be one of the following:

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.

X chromosome changes. Changed or missing parts of one of the X chromosomes can occur. Cells have one complete and one altered copy. This error can occur in the sperm or egg with all cells having one complete and one altered copy. Or the error can occur in cell division in early fetal development so that only some cells contain the changed or missing parts of one of the X chromosomes (mosaicism).

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. These individuals develop biologically as female, but the presence of Y chromosome material increases the risk of developing a type of cancer called gonadoblastoma.

Risk factors

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.

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Complications

Turner syndrome can affect the proper development of several body systems, but this varies greatly among individuals with the syndrome. Complications that can occur include:

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.

Hearing loss. Hearing loss is common with Turner syndrome. In some cases, this is due to the gradual loss of nerve function. An increased risk of frequent middle ear infections can also result in hearing loss.

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. Although these abnormalities generally don't cause medical problems, they may increase the risk of urinary tract infections.

Autoimmune disorders. Turner syndrome can increase the risk of an underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto's thyroiditis. There is also an increased risk of diabetes. Sometimes Turner syndrome is associated with gluten intolerance (celiac disease) or inflammatory bowel disease.

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). Turner syndrome can also increase the risk of developing weak, brittle bones (osteoporosis).

Learning disabilities. Girls and women with Turner syndrome usually have normal intelligence. However, there is increased risk of learning disabilities, particularly with learning that involves spatial concepts, math, memory and attention.

Mental health issues. Girls and women with Turner syndrome may have challenges functioning in social situations, may experience anxiety and depression, and may have an increased risk of attention-deficit/hyperactivity disorder (ADHD).

Infertility. Most females with Turner syndrome are infertile. However, a very small number may become pregnant spontaneously, and some can become pregnant with fertility treatment.

Pregnancy complications. Because women with Turner syndrome are at increased risk of complications during pregnancy, such as high blood pressure and aortic dissection, they should be evaluated by a heart specialist (cardiologist) and a high-risk pregnancy doctor (maternal-fetal medicine specialist) before pregnancy.

Prevention

You can’t prevent Turner syndrome. It’s a congenital problem. It happens when a random error results in a missing or incomplete X chromosome. Parents can’t do anything to stop this error from happening.