Schereshevskij Turner

Schereshevskij-Turner Syndrome, also known as Turner Syndrome (TS), is a chromosomal disorder that affects development in females. It results from a partial or complete loss of one of the X chromosomes. This condition is named after the two doctors, Henry Turner and Nikolai Schereshevskij, who independently described the syndrome in the early 20th century.

Characteristics

Turner Syndrome is characterized by a variety of medical and developmental issues, including short stature, delayed puberty, infertility, heart defects, and certain learning disabilities. However, the severity and combination of these symptoms can vary significantly among individuals with the syndrome.

Physical Features

Individuals with Turner Syndrome often have distinctive physical features. These may include a webbed neck, low-set ears, a low hairline at the back of the neck, and edema of the hands and feet. Skeletal abnormalities such as scoliosis (curvature of the spine) and osteoporosis (weak, brittle bones) may also be present.

Health Complications

Health complications associated with Turner Syndrome can include congenital heart defects, such as bicuspid aortic valve and coarctation of the aorta. Kidney abnormalities, thyroid disorders (especially hypothyroidism), and diabetes are also more common in individuals with Turner Syndrome. Regular monitoring and appropriate medical interventions can help manage these conditions.

Diagnosis

Turner Syndrome is typically diagnosed through a karyotype test, which examines the number and structure of chromosomes. In individuals with Turner Syndrome, the karyotype reveals the absence of all or part of one X chromosome in a female. Prenatal testing can also identify Turner Syndrome before birth.

Treatment

There is no cure for Turner Syndrome, but many of the associated symptoms and health issues can be treated. Growth hormone therapy may be administered to increase height. Estrogen replacement therapy can help develop secondary sexual characteristics and promote a healthy puberty. Regular monitoring and treatment for heart, kidney, and thyroid issues are also important.

Prognosis

With appropriate medical care and monitoring, individuals with Turner Syndrome can lead relatively normal lives. However, they may face challenges related to fertility and the risk of certain chronic diseases. Psychological support and counseling can also be beneficial in dealing with the social and emotional aspects of the condition.

Epidemiology

Turner Syndrome affects approximately 1 in 2,500 live female births worldwide. It is one of the most common chromosomal disorders in females and the most common cause of primary amenorrhea (absence of menstrual periods) in girls.

Schereshevskij Turner Resources
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