Turner Syndrome is a genetic disorder that involves a partial or total absence of one X chromosome in females, thereby affecting their sexual development. This HealthHearty article provides a brief account of this condition with respect to the associated symptoms, and therapeutic options.
Turner syndrome is a genetic disorder, exclusive to females, and occurs when one of the X chromosomes is normal, while the other is partially or completely missing. The resultant lack of genetic information leads to an altered physical and mental development, as well as infertility.
This condition affects about 1 in 2,500 female births around the world. However, most of the time, such pregnancies do not survive, and the fetus is often lost to miscarriage. In some cases, this condition results in still births. Those who survive need hormonal therapy, and supportive medical help for their entire life. Today, presence of the condition can be spotted in the fetus, with the help of ultrasound, amniocentesis or chorionic villus sampling.
Causes
Each individual has a set of 44 autosomal chromosomes, and 2 sex chromosomes. Females have two X chromosomes, whereas males have one X and one Y chromosome. Defective cell division during gamete formation, in either of the parents, leads to structural alteration, breaking, or complete absence of the X chromosome in the egg, or the sperm. Such a gamete when fuses with another normal gamete during fertilization, gives rise to a zygote with an altered or missing X chromosome, resulting in Turner syndrome.
Symptoms
Infants are born abnormally small, and have an underdeveloped jaw. However, not all newborns exhibit the symptoms, and the condition is apparent during the early developmental stages. Females with Turner syndrome have a wide chest and neck, as well as distended hands and feet. These females also have sagging eyelids. Other symptoms include:
- Delay in growth and development
- Short stature
- Absence of prepubescent changes
- Inability to reach the development milestones of the adolescent years
Girls suffer from lack of estrogen in their body. This causes their sexual development to stop, and even leads to an abrupt end of menstrual cycles. Symptoms associated with mental and behavioral development include:
- Learning difficulties
- Communication problems
- Poor interpersonal skills
- Problems with analytical questions
- Apathy
Treatment
Turner syndrome cannot be cured, but hormonal therapies from early childhood can help in dealing with the developmental delays. These include growth hormone therapy for physical development, estrogen replacement therapy (ERT) for development of secondary sexual characters. In addition, a healthy diet will help keep other problems like osteoporosis, diabetes, etc., at bay.
Other Facts
- Most of the babies born with Turner syndrome suffer from cardiac problems like narrowing of aorta.
- Girls with Turner syndrome have a higher risk of getting middle ear infections.
- Other health issues include high blood pressure, abnormal kidney functions, and infertility.
Females born with the syndrome suffer from many cardiac, endocrine and kidney problems. They suffer from many issues later in life, as they body development is adversely affected. Congenital heart defect increases their chances of developing hypertension and cardiovascular diseases during adulthood. A few suffer from hearing loss, impaired vision, psychological issues, etc. You can speak to your doctor for more information with respect to the therapies available.
Disclaimer: This HealthHearty article is for informative purposes only, and should not be used as a substitute for professional medical advice.
