Turnerszindróma

Turnerszindróma is a chromosomal condition that affects females. It occurs when all or part of one of the X chromosomes is missing or altered. This condition can affect a variety of developmental stages and health issues, including growth, sexual development, and heart function. The exact cause is not fully understood, but it is believed to be a random event that happens during the formation of reproductive cells.

Individuals with Turnerszindróma often experience short stature. During puberty, their ovaries may not develop properly, leading to a lack of estrogen production. This can result in delayed or absent puberty, and infertility. Other common features can include a webbed neck, low-set hairline, swelling of the hands and feet at birth, and certain heart defects.

The diagnosis of Turnerszindróma is typically made through a genetic test called a karyotype, which examines chromosomes. There is no cure for Turnerszindróma, but medical management focuses on addressing specific symptoms and complications. Hormone replacement therapy, particularly estrogen therapy, is often used to promote the development of secondary sexual characteristics and maintain bone health. Regular monitoring for associated health problems, such as heart conditions and kidney issues, is also crucial. With appropriate medical care and support, individuals with Turnerszindróma can lead healthy and fulfilling lives.