Turner syndrome, a condition that only affects women, occurs when one of the X chromosomes (sex chromosomes) is completely or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short stature, failure of the ovaries to develop, and heart defects.
Turner syndrome can be diagnosed before birth (prenatally), during infancy, or in early childhood. Occasionally, in women with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until adolescence or early adulthood.
Girls and women with Turner syndrome need ongoing medical care from a variety of specialists. Regular checkups and the right care can help most girls and women lead healthy, independent lives.
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The signs and symptoms of Turner syndrome can vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be obvious, but in other girls, various physical characteristics are evident at an early age. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects.
Turner syndrome may be suspected prenatally based on prenatal cell-free DNA testing, a method of detecting certain chromosomal abnormalities in a developing baby using a blood sample from the mother, or prenatal ultrasound. A prenatal ultrasound of a baby with Turner syndrome may show:
- Large collection of fluid in the back of the neck or other abnormal collections of fluid (edema)
- cardiac abnormalities
- abnormal kidneys
At birth or during childhood
Signs of Turner syndrome at birth or during childhood may include:
- Wide or net-shaped neck
- Low-set ears
- Broad chest with widely spaced nipples
- high narrow roof of mouth (palate)
- Arms that turn out at the elbows.
- Narrow, upturned fingernails and toenails
- Swelling of the hands and feet, especially at birth
- Slightly shorter than average height at birth
- slow growth
- heart defects
- Low hairline at the back of the head
- Small cleft or lower jaw
- short fingers and toes
In childhood, adolescence and adulthood
The most common signs in almost all girls, adolescents, and young women with Turner syndrome are short stature and ovarian failure due to ovarian failure. Failure of the ovaries to develop can occur at birth or gradually during childhood, adolescence, or early adulthood. Signs and symptoms of these include:
- slow growth
- There are no growth spurts at the expected times in infancy
- Significantly smaller adult height than would be expected for a female family member
- Inability to initiate the expected sexual changes during puberty
- Sexual development that “stuck” during adolescence
- Early end of menstrual cycles not due to pregnancy
- For most women with Turner syndrome, inability to conceive a child without fertility treatment
When to see a doctor
Sometimes it is difficult to distinguish the signs and symptoms of Turner syndrome from other disorders. It is important to get a quick and accurate diagnosis and proper care. Consult your doctor if you have any questions about the possibility of Turner syndrome. Your doctor may refer you to a doctor who specializes in genetics (geneticist) or hormone disorders (endocrinologist) for further evaluation.
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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 women with Turner syndrome, one copy of the X chromosome is missing, partially missing, or altered.
The genetic alterations of Turner syndrome can be any of the following:
- monosomy.The complete absence of an X chromosome is usually due to an error in the father's sperm or the mother's egg. This results in each cell in the body having a single X chromosome.
- Mosaicismo.In some cases, cell division fails during the 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.
- Changes in the X chromosome.Altered or missing parts of one of the X chromosomes may occur. Cells have one complete copy and one altered copy. This mistake can occur in the sperm or the egg and each cell has a complete and altered copy. Or the error may occur in cell division in early fetal development, so that only a few cells contain the altered 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 females, but the presence of the material of the Y chromosome increases the risk of developing a type of cancer called gonadoblastoma.
Effects of the missing or altered chromosome
The missing or altered X chromosome in Turner syndrome causes problems during fetal development and other developmental problems after birth, such as short stature, ovarian failure, and heart defects. The physical characteristics and health complications of these chromosome problems vary greatly.
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 change of the X chromosome occurs early in fetal development.
Family history does not appear to be a risk factor, so parents of a child with Turner syndrome are unlikely to have another child with the disorder.
Turner syndrome can affect the proper development of many body systems, but this varies greatly among people with the syndrome. Complications that can occur include:
- Heart problems.Many babies with Turner syndrome are born with heart defects or even minor 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 supplies oxygen-rich blood to the body.
- Hypertension.Turner syndrome can increase the risk of high blood pressure, a condition that increases the risk of developing heart and blood vessel disease.
- Hearing loss.Hearing loss is common in 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 lead to hearing loss.
- Eye sight problems.Turner syndrome may present an increased risk of poor muscle control of eye movements (squint), nearsightedness, and other vision problems.
- Kidney problems.Turner syndrome may be associated with malformations of the kidneys. While these abnormalities don't usually cause medical problems, they can 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. Turner syndrome is sometimes associated with gluten intolerance (celiac disease) or inflammatory bowel disease.
- Skeletal problems.Problems with bone growth and development increase the risk of abnormal curvature of the spine (scoliosis) and roundness of the upper back (kyphosis). Turner syndrome can also increase your risk of developing weak and brittle bones (osteoporosis).
- Learning difficulties.Girls and women with Turner syndrome usually have normal intelligence. However, there is an increased risk of learning problems, particularly with learning that involves spatial concepts, math, memory, and attention.
- Mental health problems.Girls and women with Turner syndrome may have difficulty functioning in social situations, may experience anxiety and depression, and may be at increased risk for attention deficit hyperactivity disorder (ADHD).
- Sterility.Most women with Turner syndrome are infertile. However, a very small number can 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 cardiologist (cardiologist) and a high-risk pregnancy doctor (maternal medicine specialist). fetal) before pregnancy.
By Mayo Clinic staff
February 11, 2022