- Turner syndrome is a chronic, rare and random genetic condition that affects females, and causes a variety of medical problems.
- The most common signs are short stature and ovarian insufficiency.
- Turner syndrome occurs when one of the two X chromosomes normally found in women is missing or incomplete, but the exact cause is not known.
- Symptoms appear in varying degrees depending on someone's unique genetic makeup.
- There is no cure for Turner syndrome, some treatments can help cope with the condition.
Introduction:
Turner syndrome is a chronic and rare genetic condition that affects females, and causes a variety of medical problems. Most women with Turner syndrome have normal intelligence with the possibility of developmental delay. Although these characteristics differ among them, the most common signs may be short stature, which becomes apparent at the age of five.
Other Names of the Disease:
Monochromic X - Ulrich Turner syndrome.
Types:
- Classical Turner syndrome, where one of X chromosome is completely missing.
- Mosaic Turner syndrome, where one of X chromosome is partially missing or abnormal.
Cause:
Most people are born with two sex chromosomes. Boys inherit the X chromosome from their mothers and the Y chromosome from their fathers. Girls inherit one X chromosome from each parent. Turner syndrome is related to the X chromosome, one copy of the X chromosome is completely missing or partially missing or altered due to an error during cell division. The exact, underlying cause of Turner Syndrome is not known.
Risk Factors:
The loss or alteration of the X chromosome occurs randomly. Sometimes, it's because of a problem with the sperm or the egg, and other times, the loss or alteration of the X chromosome happens early in fetal development. Family history doesn't seem to be a risk factor, so it's unlikely that parents of one child with Turner syndrome will have another child with the disorder.
Symptoms:
- Short stature, delayed puberty.
- Arms that turn outward at the elbows.
- Fingernails and toenails that are narrow and turned upward.
- Low hairline at the back of the head.
- Ovarian insufficiency and nonappearance of sexual changes at puberty.
- Broad chest with widely spaced nipples, and skin folds on the neck.
- High, narrow roof of the mouth.
- Swelling of the hands and feet.
- Chronic middle ear infection.
- Kidney problems.
- Heart defects such as: aortic stenosis or aortic valve abnormalities.
Symptoms can appear in varying degrees, depending on the genotype of each person.
When to see a doctor?
When symptoms and signs are observed, or when there are growth concerns.
Complications:
Complications vary widely among individuals with the syndrome, including:
- Dental problems.
- Heart problems.
- High blood pressure.
- Hearing loss.
- Vision problems.
- Learning disabilities.
- Autoimmune disorders, such as: underactive thyroid (hypothyroidism) and digestive disorder.
- Gastrointestinal bleeding.
- Kidney problems.
- Skeletal problems, such as: osteoporosis, scoliosis, or humps.
- Attention deficit hyperactivity disorder (ADHD).
- Infertility.
- Pregnancy complications, such as: high blood pressure, aortic rupture.
Diagnosis:
A diagnosis is sometimes made during fetal development, during childhood, before puberty (8-12 years), or during late adulthood:
- Before birth (prenatally): by examining the mother, taking a sample of amniotic fluid, or other tissues and cells to analyze chromosomes.
- In childhood: when the young girl doesn’t grow normally.
- During the teenage years: when puberty is delayed.
A number of tests are done to diagnose Turner syndrome, including:
- Choroid sampling (prenatal).
- Medical history.
- Clinical examinations.
- Psychological and educational testing.
- Laboratory tests: Karyotype test; to analyze the chromosome structure of an individual, and identify the presence of chromosome X.
- Genetics tests.
Early diagnosis helps to determine whether a woman has health problems that need treatment.
Treatment:
There is no cure for Turner syndrome, but a number of treatments are available to help women cope with the disease, including:
- Surgery to correct any heart defects.
- Growth hormone therapy; to increase height.
- Hormone replacement therapy.
- Regular monitoring; to check hormone levels.
- Regular follow-up and control of health problems by a medical team of all disciplines.
- To help with pregnancy and childbearing.
Prevention:
Turner syndrome cannot be prevented, but medical advice and a healthy lifestyle may help prevent cardiovascular complications in women with Turner syndrome.
FAQ:
- Can women with Turner syndrome get pregnant naturally?
- Yes, they can get pregnant with the help of fertility treatment.
- Does the syndrome affect males?
- No, only females are affected by Turner syndrome.
Myths & Realities:
- Parental age or diet is associated with the syndrome.
- People with the syndrome have abnormal thinking or mental retardation.
- Reality: The syndrome does not affect intelligence, but women may have learning difficulties and some mental problems.