Turner Syndrome

Turner syndrome is a genetic disorder characterized by the absence of one of the two X chromosomes in women. This leads to disruption of the normal development of sexual characteristics and infertility.

The syndrome is named after the American endocrinologist Henry Turner, who first described the disease in 1938.

The cause of the syndrome is the absence of a second X chromosome in some or all cells of the body. This occurs due to an error in the division of germ cells during the formation of the embryo.

Main symptoms:

1. Short stature
2. Absent or delayed puberty
3. Primary amenorrhea (absence of menstruation)
4. Infertility
5. Congenital defects of the heart, kidneys and other organs

Diagnosis is based on karyotype analysis and detection of the absence of one X chromosome.

Treatment of the syndrome consists of hormone replacement therapy to develop secondary sexual characteristics. Surgical correction of birth defects may also be performed if necessary.

The prognosis for patients with Turner syndrome is generally favorable with adequate treatment, but infertility remains incurable.

>Turner syndrome

Turner syndrome is a genetic disorder caused by the absence of one of the sex chromosomes (X chromosome) in women. It is characterized by various disorders in the development and functioning of the body, including abnormalities in the skeleton, genital organs, visual organs, nervous system and other body systems. Turner syndrome belongs to the category of diseases associated with chromosomal abnormalities.

It is known that the X chromosome is key for the normal development of female reproductive organs, and the absence of this chromosome leads to the development of many syndromes in girls and women with this disease. Skeletal abnormalities are also common among patients with Turner syndrome, since the absence of the X chromosome can lead to disruption of pituitary hormones. As a result, changes occur in the structure of bones and tissues, which leads to deformations of the skeleton and spine.

Turner syndrome often occurs silently, and symptoms may not appear until adulthood or during pregnancy. Some of the symptoms may include short stature (less than 150 cm), frail structure, small hands and feet, angular and irregularly shaped faces, musculoskeletal disorders and related medical problems.

Treatment for Turner syndrome may include medical therapy to normalize hormonal levels and reduce the risk of possible complications of the disease. Many teenagers with Turner syndrome stop treatment as they get older and face reluctance from their peers to date them. However, some people continue to take medications and find partners so as not to stop treatment or delay having a child due to medical difficulties.

It is important to remember that each person with Turner syndrome differs in the severity of the disease, and it can be treated more or less effectively. But in any case, it is necessary to identify it at an early stage and begin treatment.