Turner Syndrome – What is it, Symptoms and Treatments!
Turner Syndrome – What it is, Symptoms and Treatments of this disease that many are unaware of. Also, Turner Syndrome is a genetic condition caused by an abnormality in one of your sex chromosomes. It is also called monosomy X, gonadal dysgenesis and Bonnevie-Ullrich syndrome.
Only females develop this condition . Turner Syndrome occurs when part or all of one of your X chromosomes is missing. This condition affects approximately 1 in 2,000 females.
People with Turner Syndrome can lead healthy lives. But they typically require some consistent, ongoing medical supervision to detect and treat complications.
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Causes of Turner Syndrome: Humans have 46 chromosomes. Chromosomes contain all the genetic information within them, what we know as DNA. Two of these chromosomes are called sex chromosomes, known as X and Y. These chromosomes determine sex , where XX corresponds to the female sex and XY corresponds to the male sex, the sexual organ, where XX corresponds to the vagina and XY corresponds to the penis.
Turner Syndrome occurs in women who have one sex chromosome less, that is, they have 45 chromosomes (one sex chromosome less).
Symptoms of Turner Syndrome: Women with Turner Syndrome have certain physical characteristics at birth and childhood, including:
- Swollen hands and feet (in babies);
- Short;
- A high palate;
- Low ears;
- Obesity ;
- Long Neck;
- Lowered eyelids;
- Flat foot.
Women with this condition may also have other medical problems associated with Turner Syndrome , including:
- heart defects;
- infertility ;
- Problems of sexual development ;
- Hearing loss;
- High pressure;
- dry eyes;
- Frequent ear infections;
- Scoliosis (spinal curvature).
These symptoms may appear in early childhood. Or, in the case of sexual development and fertility problems, they may develop later in adolescence.
Having one or more of these symptoms does not mean you have Turner Syndrome . It is important that young women suspected of having this syndrome undergo a thorough examination by a physician for an accurate diagnosis.
Diagnoses of Turner Syndrome: Prenatal genetic testing done before birth can help a doctor diagnose Turner Syndrome . The condition is identified through karyotyping. When performed during prenatal testing, karyotyping can detect whether the mother’s chromosomes have any genetic abnormalities.
Your doctor may 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 examine heart defects;
- Pelvic examination;
- Pelvic and renal ultrasound;
- Chest MRI.
Turner Syndrome Treatments: You can still lead a healthy life if you are diagnosed with Turner Syndrome . There is no cure, but there are treatments that can ease your symptoms and improve your quality of life.
Growth hormone injections can help children with Turner Syndrome grow larger. Hormone therapy can also help with the development of secondary sex characteristics such as breasts and pubic hair. It is usually given at the beginning of puberty.
Women who are infertile because of Turner Syndrome can receive egg donations so they can get pregnant. Your gynecologist may refer you to a fertility specialist for more information about other methods.
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Finding a support group for women with the condition, or talking to a counselor, can give you emotional support and any other challenges you may encounter as a result of your condition.