What is Turner syndrome?
Turner syndrome (TS or monosomy X) is a genetic illness that occurs in girls. It causes many traits and problems. Girls with Turner syndrome are shorter than most girls. They do not go through normal puberty as they reach adulthood. They may also have other health difficulties, such as heart or kidney problems.
The severity of these problems varies from girl to girl. Many of the health problems that affect girls with Turner syndrome can be controlled or fixed with treatment. Turner syndrome is rare. It occurs in about 1 in 2,000 to 2,500 baby girls.
Signs and symptoms of Turner syndrome
The symptoms and severity of Turner syndrome can vary quite a bit from one person to another. Many topographies of the disorder are generic, and others may develop gradually over time or may be subtle. It is important to note that affected individuals may not have all of the symptoms described below. Affected individuals should speak with their doctor and medical team about their specific case, associated symptoms, and general prognosis.
Almost all women with Turner syndrome are stunted and reach a final height shorter than average (short stature). Children may initially show normal growth, usually during the first few years of life. However, in most cases, the growth rate eventually becomes slower than normal, and affected children do not experience normal growth spurts (for example, no growth spurts during puberty). If left untreated, the final height in Turner syndrome is usually less than 5 feet.
Another common feature of Turner syndrome is the lack of proper development of the ovaries (gonadal dysgenesis). Gonadal dysgenesis can cause loss of ovarian function in childhood (premature ovarian failure). Normally, the ovaries produce sex hormones (for example, estrogens and progesterone) at puberty. These hormones are needed for the onset of puberty and the good development of secondary sexual characteristics.
Most affected women will require hormone replacement therapy to develop normal female breasts and body contours, experience proper bone growth, and begin menstruation. In some cases, pretentious individuals may begin to knowledge breast development and may start menstruating without therapy (spontaneous pubertal development), but most will stop developing sexually and will stop menstruating sometime later during adolescence.
Types of Turner syndrome
There are 2 types of Turner syndrome: TS monosomy X and TS mosaic. About semi of all girls with Turner syndrome have a monosomy illness. Monosomy means that a person is missing a chromosome in the pair.
Causes of Turner syndrome
Turner syndrome happens when a woman is missing certain genes that are generally on the X chromosome. (Females have two X chromosomes. Males have one X and one Y).
Some girls with Turner are missing a complete copy of the X chromosome. For others, only a part of one that contains the particular set of genes is missing. The different ways genes can be affected include:
Monosomy: A problem with the mother’s egg or the father’s sperm causes the X chromosome to be missing from all cells in the body.
Mosaicism: When cell division during the early stages of fetal development does not occur correctly, some cells in the body obtain two complete copies of the X chromosome. Other cells have only one copy.
X chromosome abnormalities: Cells have one whole copy and one abnormal or lost copy of the X chromosome.
Y chromosome: Y chromosome material In some cases, some cells get a copy of the X chromosome and other cells get a copy of the X chromosome and some Y chromosome material. Biologically, you develop as a woman. The Y chromosome material increases your risk of developing a type of cancer called gonadoblastoma.
Approximately 70,000 American women and girls are living with this disease. Research has found that almost 99% of babies who lack the chromosome have a miscarriage. But about 1% of the time, these babies are born and have the syndrome.
Risk factors of Turner syndrome
The loss or alteration of the X chromosome occurs randomly. Sometimes it is due to a problem with the sperm or egg, and other times the loss or alteration of the X chromosome occurs early in fetal development.
Family history does not look to be a risk factor, so the parents of a child with Turner syndrome are doubtful to have another child with the disorder.
Diagnosis of Turner syndrome
Prenatal genetic testing is done before birth can help your doctor diagnose Turner syndrome. The condition is identified by karyotype. When performed during prenatal testing, the karyotype can detect whether the mother’s chromosomes have any genetic abnormalities.
Your specialist might also order tests to look for the physical symptoms of turner syndrome. These tests can include:
• Blood tests to check sex hormone levels
• Echocardiogram to look for heart defects
• Pelvic exam
• Pelvic and renal ultrasound
• Chest MRI
Treatment for Turner syndrome
Turner syndrome is a genetic condition that has no cure, but treatment can help solve problems with short stature, sexual development, and learning difficulties. Early preventive care is mainly to decrease the risk of complications. Blood pressure and the thyroid gland need frequent monitoring and any necessary treatment should be given immediately.
Treatment for inner ear infections with an ear, nose, and throat (ENT) specialist can minimize the risk of hearing difficulties later in life. Hormone therapy can include estrogen, progesterone, and growth hormones. A pediatric endocrinologist can provide them. Growth hormone therapy should begin if the girl is not growing normally, to prevent short stature and social stigma in the future.
A daily injection of growth hormone can add an extra 4 inches or 10 centimeters to a girl’s final height. The best age to start this has not been confirmed, but treatment usually starts from the age of 9. Estrogen and progesterone replacement therapy will allow for sexual development and reduce the risk of osteoporosis. Blood tests can show how much hormone the patient produces naturally.
Estrogen replacement therapy will begin at the beginning of puberty, around the age of 14, starting with low doses that increase slowly. Progesterone therapy, given later, can trigger menstruation. Treatment with sex hormones will continue for the rest of the person’s life. It can be given as tablets, injections, or patches.
About 90 percent of girls with turner syndrome will need hormone treatment to trigger puberty and stimulate growth. In vitro fertilization (IVF) will be necessary if the person wants to get pregnant. Any pregnancy will need close monitoring, due to the added stress on the heart and blood vessels.
Counseling and psychological therapy can benefit patients with psychological complications. Learning assistance and educational support can help those who struggle with math, spatial concepts, memory skills, and fine finger movements.
Complications of Turner syndrome
Turner syndrome can affect the proper development of various body systems, but it varies greatly between people with the syndrome. Complications that can occur include:
- Heart problems: Many babies with Turner syndrome are born with heart defects or even mild abnormalities in the structure of the heart that increase the risk of serious complications. Heart defects often include problems with the aorta, the large blood vessel that branches off the heart and carries oxygen-rich blood to the body.
- Hypertension: Women with Turner syndrome are at increased risk for high blood pressure, a condition that increases the risk of developing heart and blood vessel disease.
- Hearing loss: Hearing loss is common with Turner syndrome. In some cases, this is due to the gradual loss of nerve function. An enlarged risk of frequent middle ear infections can also lead to hearing loss.
- Eyesight problems: Girls with turner syndrome are at increased risk for weak muscle control of eye movements (strabismus), myopia, and other vision problems.
- Kidney problems: Girls with turner syndrome may have approximately malformation of the kidneys. Although these abnormalities do not generally cause medical problems, they can increase the risk of high blood pressure and urinary tract infections.
- Autoimmune disorders: Girls and women with Turner syndrome are at increased risk of underactive thyroid (hypothyroidism) due to the autoimmune disorder Hashimoto’s thyroiditis. They are also at increased risk for diabetes. Some women with Turner syndrome have gluten intolerance (celiac disease) or provocative bowel disease.
- Skeletal problems.Problems with bone growth and development increase the risk of abnormal curvature of the spine (scoliosis) and forward rounding of the upper back (kyphosis). Women with Turner syndrome are also at increased risk of developing weak and brittle bones (osteoporosis).
- Learning difficulties. Girls and women with Turner syndrome frequently have normal intelligence. However, there is an increased risk of learning disabilities, particularly with learning that involves spatial concepts, mathematics, memory, and attention.
- Mental health problems: Girls and women with Turner syndrome may find it difficult to function well in social situations and are at increased risk for attention-deficit/hyperactivity disorder (ADHD).
- Infertility: Most women with Turner syndrome are infertile. However, a very small number of women can become pregnant spontaneously, and some can become pregnant with fertility treatment.
- Complications of pregnancy: Since women with turner syndrome are at increased risk for complications through pregnancy, such as high blood pressure and aortic dissection, they should be evaluated by a cardiologist before pregnancy.
Prevention of Turner syndrome
Turner syndrome cannot be prevented. It is a genetic problem caused by a random error that leads to the lack of an X chromosome in the sperm or egg of one of the parents. There is nothing the parent can do to prevent the error from occurring. However, there are many treatment options.