Journal of Down Syndrome & Chromosome Abnormalities
Open Access

A Brief Note on Turner Syndrome

Khue Vu Nguyen^{* *}Correspondence: Khue Vu Nguyen, Departments of Medicine and Pediatrics University of Freiburg, Baden-Württemberg, Germany, Email:

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Description

Turner syndrome is a genetic disorder that primarily affects females. It is caused by lacking or completely missing the X chromosome. Turner syndrome can be identified during pregnancy, during infancy, or in the early years of life. Sometimes the diagnosis of Turner syndrome in girls with minor indications and symptoms is not made until the teen or young adult years. Turner syndrome patients need constant medical treatment from a range of specialists. The majority of girls and women may enjoy healthy, independent lives with regular examinations and the right treatment. This condition affects approximately 1 in 2000 babies in females.

Girls and women with Turner syndrome may exhibit a variety of signs and symptoms. Turner syndrome may be suspected during pregnancy based on prenatal cell-free DNA screening, which uses a mother's blood sample to check for specific chromosomal abnormalities in the unborn child, or prenatal ultrasound. Prenatal ultrasound of a baby with Turner syndrome may show edema, abnormal kidney and heart abnormalities.

Turner syndrome symptoms that may be present at birth or during infancy include wide neck; broad chest with widely spaced nipples; swelling of the hands and feet, particularly during pregnancy; slightly smaller than average height at birth; short toes and fingers; cardiac issues; Low hairline at the back of the head; slowed growth etc.

The most common symptoms of Turner syndrome in almost all adolescent girls, teens, and women are short stature and ovarian insufficiency as a result of ovarian failure. Ovarian failure can starts at birth or gradually during childhood, adolescence, or young adulthood. These include the following signs and symptoms are slowed growth; early end to menstrual cycles not due to pregnancy; failure to begin sexual changes expected during puberty; no growth spurts at the normal ages of childhood etc.

Depends on the problem with the X chromosome, the type of Turner syndrome of a person are Monosomy X, Mosaic Turner syndrome and Inherited Turner syndrome. Some tests are performed by physicians for the examination of physical symptoms of Turner syndrome may include MRI scan, echocardiogram, maternal serum screening, amniocentesis, blood tests to check the chromosome levels, ultrasound during pregnancy etc. A genetic test called Karotyping, done before birth which can help the physician to diagnose the Turner syndrome.

The primary treatments for almost all girls and women with Turner syndrome include hormone therapies like estrogen therapy and growth hormone therapy.

Complications of Turners syndrome may include heart problem; vision problem; loss of hearing; high blood pressure; autoimmune disorders such as hyperthyroidism and celiac diseases; mental health issues; infertility; kidney problem; skeletal problem such as osteoporosis, scoliosis, kyphosis and pregnancy complications.

Conclusion

Turner syndrome is a genetic disorder that primarily affects females. Turner syndrome can be identified during pregnancy, during infancy, or in the early years of life. Girls and women with Turner syndrome may exhibit a variety of signs and symptoms. Turner syndrome may be suspected during pregnancy based on prenatal cell-free DNA screening, which uses a mother's blood sample to check for specific chromosomal abnormalities in the unborn child, or prenatal ultrasound. The most common symptoms of Turner syndrome in almost all adolescent girls, teens, and women are short stature and ovarian insufficiency as a result of ovarian failure. Complications of Turners syndrome may include heart problem; high blood pressure; autoimmune disorders such as hyperthyroidism and celiac diseases; mental health issues; infertility; kidney problem; skeletal problem such as osteoporosis, scoliosis, kyphosis and pregnancy complications.