Turner syndrome is a relatively rare disease that affects only women and is caused by an abnormality of the sex chromosomes. It can lead to a wide variety of physical and developmental alterations, but if it is diagnosed early and continued with ongoing care, it generally allows most patients to live a healthy and independent life. There are several physical clues that can manifest early, already from gestation to the teenage years, and that reveal the presence of the syndrome; however, only genetic tests can diagnose the disorder with certainty. Recognizing the signs to look for can help diagnose the syndrome correctly and be able to treat it promptly.
Steps
Part 1 of 3: Identifying the Syndrome in Fetuses and Infants
Step 1. Get an ultrasound to detect prenatal marker signs
Many cases of Turner syndrome are detected randomly while the baby is still in the womb. A standard prenatal ultrasound is often capable of detecting several indicators of the disease, although specific tests are required to obtain a certain diagnosis.
- A frequent prenatal symptom is lymphedema, a swelling of the body's tissues, which is often detected by ultrasound; if such a disorder is found, it is worth proceeding with further tests for Turner syndrome.
- In particular, when lymphedema develops in the back of the neck, the suspicion that the fetus is sick is very strong; other typical prenatal signs are specific cardiac and renal abnormalities.
- Some abnormalities visible on ultrasound require a karyotype analysis by taking blood from the fetal cord or from the newborn to check for the disease.
Step 2. Identify the signs of the syndrome early in life
If it is not diagnosed in the fetal stage, it is very often possible to detect it at birth. When these physical signs are seen soon after childbirth or in the first few years of life, genetic testing is needed to confirm or rule out the disease.
- When the syndrome is not diagnosed in the womb, lymphedema, cardiac and / or renal abnormalities are possible indicators of the disease.
- In addition, the newborn may have one or more of the following symptoms: wide or webbed neck, small jaw, large chest with widely spaced nipples, short fingers and nails, upturned nails, below average growth and development rate, in addition to other possible signs.
Step 3. Get the diagnosis through karyotype examination
It consists in the analysis of chromosomes which detects the anomalies responsible for the syndrome. In the neonatal age it is sufficient to perform a simple blood test to start the process; the karyotype test is a very accurate diagnostic method.
For fetuses still in the womb, an ultrasound is required to indicate the presence of the syndrome, usually followed by a blood test from the mother that contains traces of the fetus's DNA. If the presence of the disease is also found from this, analysis of a sample of the placenta or amniotic fluid is performed to confirm or not the disease
Part 2 of 3: Diagnosing the Syndrome in Adolescents and Young Adults
Step 1. Check if the growth rate is below average
In rare cases, the signs of the syndrome are not noticed until the girl reaches the age of adolescence or a little more; if it is consistently lower than the average and never shows a peak of growth, it may be useful to carry out the tests.
Generally speaking, if a girl's height is about 20cm below average, testing for Turner syndrome should be done
Step 2. Pay attention to the absence of the first signs of puberty
Most girls affected by this disease have ovarian failure which leads to infertility and prevents the onset of puberty. This deficiency can occur from the first years of life or develop progressively in the following ones and it is possible that it does not manifest itself until the girl reaches the age of adolescence.
If you have been a teenager for a while and there are few signs that indicate the onset of puberty - growth of body hair, breast development, menstruation, sexual maturity, etc. - there is a high probability that she is affected by the disease
Step 3. Look for specific social and learning difficulties
Turner syndrome can also affect the emotional and psychological development of some patients, but such signs may not be visible in early childhood. However, if the teen or young woman has social difficulties due to an inability to interpret others' responses and emotions, you may want to consider the odds of illness.
Furthermore, ill adolescents may show a particular learning disability regarding spatial concepts; for example, this difficulty may be more evident as math lessons start to get more complex. Of course, this does not mean that all girls who have difficulty with math have the syndrome, but it may be something to consider when other signs are present
Step 4. Contact your doctor to confirm your suspicions
Just because a girl is particularly short, has kidney problems, a low hairline on her neck, or doesn't enter puberty at typical age doesn't mean she has Turner syndrome. The visible signs and common symptoms are only clues, the only way to confirm the syndrome and make a certain diagnosis is a genetic examination.
- Genetic examination of the karyotype offers an accurate diagnosis and simply requires a blood sample; to get the results it is necessary to wait one or two weeks. It is a simple and very accurate test.
- Most cases are found and diagnosed prenatally or as soon as the baby is born, but if you suspect the syndrome has not been recognized, see your doctor for evaluation. The sooner the disease (if any) is confirmed, the sooner you can start with important care. For example, giving growth hormones early can make a big difference in the height a girl can reach.
Part 3 of 3: Knowing and Managing the Syndrome
Step 1. Know that this is a rare disease
It is caused by a total or partial lack of the X chromosome or by its anomaly in female individuals. All the studies carried out have found that this is a completely random event and family history plays no role; this means, for example, that if your daughter is sick there is no greater chance that a second child will be affected.
- The male child takes the X chromosome from the mother and the Y chromosome from the father; the female instead has two X chromosomes, one from each parent. However, in girls with Turner syndrome one X chromosome is missing (monosomy), one of the two may be damaged, partially absent (mosaicism), or have traces of Y chromosome material.
- The syndrome affects approximately 1 in 2,500 females worldwide; however, this average is much higher when counting stillbirths and miscarriages, among which disease plays a significant role. The improvements in prenatal tests have obviously increased (albeit indefinitely) the incidence of fetuses with the syndrome on the total number of abortions.
Step 2. Prepare for a wide range of clinical and developmental challenges
In addition to the typical impact on physical growth and reproductive development, the possible effects of the syndrome are multiple and can vary greatly from person to person. The precise nature of the X chromosome abnormality and a number of other factors play a role only in how the syndrome affects the patient; however, expect to face numerous problems.
Among the various complications (but they are not the only ones) are: heart and kidney defects, increased risk of diabetes and hypertension, loss of hearing, vision, teeth, skeletal problems, immune system disorders such as hypothyroidism, infertility (in almost all cases) or significant gestational complications, psychological problems such as attention deficit / hyperactivity disorder (ADHD)
Step 3. Get regular checkups for common health effects
Women with the syndrome are 30% more likely to suffer from congenital heart defects and kidney abnormalities. Therefore, all those diagnosed with the disease must undergo a cardiac check-up, a kidney ultrasound and have to undergo constant checks at the specialists of these sectors.
- A sick woman must also regularly check her blood pressure, thyroid, perform hearing tests, as well as other tests and tests that are recommended to her by the medical staff.
- Managing the disease requires constant and regular medical attention from a team of specialists from different branches and this could be very distressing; however, in most cases, this approach allows patients to lead a largely independent and healthy life.
Step 4. Learn to live with this disorder
Turner syndrome, whether diagnosed before birth or in early adulthood, is far from being a death sentence. Affected women are able to live as long, active and satisfying lives as anyone else, although it is essential to obtain a diagnosis and appropriate treatment to make this possibility more realistic.
- Traditional treatments include growth hormone therapy to get taller, estrogen therapy to reach a peak in physical and sexual development associated with puberty, and treatments to manage symptoms (for example for heart or kidney problems).
- In some cases, fertility treatments allow women who have this syndrome to have children, although they are often ineffective; however, it is almost always possible to lead a normal and sexually active life, regardless of fertility status.
