Turner syndrome is a genetic condition found in females only. It affects about 1 in every 2,500 girls. It occurs when part or all of one of your X chromosomes is missing. It’s also called monosomy X, gonadal dysgenesis, and Bonnevie-Ullrich syndrome.
The type of Turner syndrome (TS) a person has depends on the problem with the X chromosome:
• Monosomy X: Each cell has only one X chromosome instead of two. About 45% of people with TS have this type. It comes from the mother’s egg or the father’s sperm randomly forming without an X chromosome. After fertilization, the baby’s cells also contain this defect.
• Mosaic Turner syndrome: Also called 45,X mosaicism, this type makes up about 30% of Turner syndrome cases. Some of the baby’s cells have a pair of X chromosomes, while other cells only have one. It happens randomly during cell division early in pregnancy.
• Inherited Turner syndrome: In rare cases, babies may have inherited TS, meaning their parent (or parents) were born with it and passed it on. This type usually happens because of a missing part of the X chromosome.
People assigned female at birth with this syndrome can exhibit certain characteristics during infancy and in childhood, as well as into adulthood.
Some signs that appear during infancy include
• small size
• swelling of hands and feet
• extra folds in the neck
• heart abnormalities
• difficulty with feeding
▪︎ Childhood and teenage years
As a person grows up, the signs of Turner syndrome may become a bit more obvious. Some of these signs include:
• smaller in stature than most of their peers
• below average in both height and weight
• chronic ear infections
• hearing issues
• learning difficulties
One of the main symptoms of is the underdevelopment of the ovaries. Because the ovaries are responsible for producing sex hormones, this underdevelopment can slow or stop the typical signs of puberty, such as breast development and menstruation, in people assigned female at birth.
If it is not treated earlier, or if a person is living with a severe form of it, some of the symptoms in adulthood can include:
• irregularities in menstrual cycle
• hearing issues
• heart issues
• small stature
Turner syndrome happens when a female is missing certain genes that are normally on the X chromosome. (Females have two X chromosomes. Males have an X and a Y).
Some girls with Turner are actually missing a whole copy of the X chromosome. For others, just part of one containing the particular set of genes is missing.
It 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.
• 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.
• 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.
Prenatal genetic testing done before birth can help a doctor diagnose Turner syndrome. The condition is identified through a laboratory procedure called karyotyping. When performed during prenatal testing, karyotyping can detect if the mother’s chromosomes have any genetic abnormalities.
Your doctor may also order tests to look for the physical symptoms of Turner syndrome. These tests may include:
• blood tests to check sex hormone levels
• echocardiogram to examine for heart defects
• pelvic exam
• pelvic and kidney ultrasound
• chest MRI scan
Besides care for related medical problems, Turner syndrome (TS) treatment often focuses on hormones. Treatments may include:
• Human growth hormone: Injections of human growth hormone can increase height. If treatment starts early enough, these shots can increase the final height of people with TS by several inches.
• Estrogen therapy: Often, people with TS need estrogen, a female hormone. This type of hormone replacement therapy can help girls develop breasts and begin menstruation. It can also help their uterus grow to a typical size. Estrogen replacement improves brain development, heart function, liver function and skeletal health, too.
• Cyclic progestins: These hormones are often added at age 11 or 12 if blood tests note deficiency. Progestins will induce cyclic menstrual periods. Treatment is often started with very low dosages and then gradually increased to simulate normal puberty.
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