This is a health condition that impacts women only and happens when one of the X chromosomes is partially or totally missing. Once people get this condition, they may experience different medical and developmental problems including heart defects, short height, and failure of the ovaries development.
This condition can be diagnosed by doctors before birth, during infancy, or in early childhood. Sometimes, when women with mild Turner syndrome symptoms, the diagnosis is delayed until their teen or young adult years.
However, girls and females with this condition need medical care which includes different healthcare providers. They can help to lessen the symptoms and improve your quality of life.
Symptoms
The symptoms fluctuate among girls and women with this health condition. Usually, the symptoms develop slowly over time (such as heart defects).
Before Birth
Prenatal tests can identify this condition. These include cell-free DNA screening, blood tests, or prenatal ultrasound. Check below some symptoms:
- Abnormal kidney or heart
- Edema (large fluid buildups in the back of the neck)
At Birth or During Infancy
- Low-set ears
- Wide neck
- Swelling of the feet or hands
- Narrow and high roof of the mouth
- Widely spaced nipples
- Narrow toenails and fingernails
- Smaller height at birth
- Slowed growth
- Cardiac problems
- Low hairline at the back of the head
- Arms can turn outward the elbows
- Small lower jaw
- Short fingers and toes
In Childhood, Teens, and Adulthood
The primary symptoms of all girls, teenagers, and young women with this disorder are short height and ovarian insufficiency (provoked by ovarian failure). Check below other symptoms:
- Slowed growth
- Reduced height than expected
- Failure to start sexual changes during puberty
- Early end to menstrual cycles
- Infertility
In some cases, it may be challenging to diagnose this condition because many symptoms are similar to other diseases. However, if you experience any of the previous symptoms, immediately contact your healthcare professional.
Causes
In normal circumstances, people are born with two sex chromosomes. Men inherit the X chromosome from their mothers and the Y chromosome from their fathers. However, women inherit one X chromosome from each biological parent. Turner syndrome happens when one X chromosome missing or partially missing. Check below some causes that contribute to Turner syndrome:
- Monosomy – In such cases, the X chromosome is completely missing. It might occur due to an error in the father’s sperm or the mother’s egg.
- Mosaicism – Sometimes, a problem can occur in the early stages of fetal development in cell division.
- X chromosome changes – In some cases, missing parts or changes in one of the X chromosomes can happen. The main causes are the father’s sperm or the mother’s egg.
- Y chromosome material – While is less common, Turner syndrome can occur due to this cause. In such cases, women are more likely to develop a cancer type known as gonadoblastoma.
What Are The Risk Factors?
X chromosome changes happen randomly which means it appears due to sperm or the egg issues while other times occur in early fetal development. Furthermore, family history is not a risk factor. For instance, if a biological parent has a child with Turner syndrome it is not necessarily another child will have this disorder.
Complications
This condition affects different parts of the body among people. Check below some potential complications:
- Heart issues – There are many babies with Turner syndrome born with heart defects or abnormal heart structure. As a result, they are at higher risk of developing serious health problems. Most commonly, heart defects include problems with the aorta and large blood vessels.
- Hypertension – Those who were born with this disorder are more prone to develop high blood pressure.
- Hearing loss – This is a common complication that happens due to a loss of nerve function.
- Vision changes – Strabismus (weak muscle control) and nearsightedness often happen.
- Kidney problems – Certain malformations of the kidneys can occur in people with Turner syndrome. Mostly, these changes do not provoke any serious health problems but increase your risk of urinary tract infections only.
- Autoimmune diseases – This disorder can elevate your risk of hypothyroidism (underactive thyroid gland) caused by Hashimoto’s thyroiditis, diabetes, celiac disease, or inflammatory bowel disease.
- Skeletal issues – Scoliosis, kyphosis, and osteoporosis can occur in people with Turner syndrome.
- Difficulty learning – While most people with Turner syndrome have normal intelligence, learning disabilities can happen.
- Mental health problems – Anxiety and depression can occur due to having challenges in social situations.
- Infertility – Approximately all women with Turner syndrome are infertile. However, a small percentage of females can get pregnant and it occurs spontaneously. Sometimes, healthcare providers can help you get pregnant with treatment.
- Pregnancy complications – pregnant women are at higher risk of developing hypertension and aortic dissection.
Diagnosis
In case physicians suspect that your child has Turner syndrome, they can perform blood tests to analyze the chromosomes. Sometimes, they can also remove a skin sample because this test helps to identify a missing or change in X chromosomes.
Prenatal Diagnosis
Healthcare providers can diagnose this condition during fetal development. They commonly use ultrasound imaging to determine if the fetus has Turner syndrome or other genetic disorders.
Other prenatal tests that can help the doctor diagnose Turner syndrome are noninvasive prenatal screening or prenatal cell-free fetal DNA screening. In any case, the karyotype is recommended during pregnancy or after delivery because it will help to confirm the disease.
Your physician may recommend additional tests for Turner syndrome before birth. Check below some of them:
- Chorionic villus sampling – This test involves a small sample of the placenta because it contains the same genetic material as a fetus. Thereafter, it is sent to the laboratory for chromosome studies. Commonly, this test can be done between 11-14 weeks of pregnancy.
- Amniocentesis – Physicians during this test will get amniotic fluid from the uterus. After that, doctors send this material to the laboratory for chromosome study.
Treatment
The treatments are different among patients because symptoms and complications vary. Check below the main Turner syndrome treatments:
- Growth hormone – This is a treatment given as a daily injection of human growth hormone. Mostly, physicians prescribe this treatment for those who experience height problems. Therefore, it helps to improve one’s height and bone growth.
- Estrogen therapy – Approximately all people with Turner syndrome need to begin this hormone therapy to start puberty. It is commonly prescribed near 11 or 12 years old. This hormone helps people with this genetic disorder to improve breast development and uterus size. It also promotes bone mineralization and can help enhance height. Usually, this treatment option is used until a woman reaches menopause.
Frequently Asked Questions
What is the primary Turner syndrome cause?
This genetic disorder happens due to missing part or all of an X chromosome. This problem usually occurs during fetal development. It can be diagnosed either during pregnancy or after delivery.
What are the main symptoms of Turner syndrome?
- Webbed neck (short and wide neck)
- Broad chest (widely spaced nipples)
- Teeth issues
- Low hairline
- Small nails
If you notice that your child has any of the previous symptoms, you should visit a healthcare professional.
What are the possible Turner syndrome complications?
The following complications are usually associated with this genetic condition. For example:
- Hypertension
- Diabetes
- Elevated risk for obesity
- Kidney and heart malformations
- Ovarian failure
- Short stature
If you have additional questions, ask your healthcare professional.
