Turnersyndrooma

Turnersyndrooma is a chromosomal condition that affects females. It occurs when one of the X chromosomes is missing or partially missing. The most common cause is a random event during the formation of reproductive cells in a parent. This condition is not inherited.

Individuals with Turnersyndrooma typically have a variety of symptoms, which can differ greatly from person to person. Common physical characteristics may include short stature, webbed neck, low hairline, and puffiness of the hands and feet at birth. Many individuals with Turnersyndrooma experience a lack of puberty development and infertility. Other potential health issues can affect the heart, kidneys, thyroid, and bones. Learning difficulties, particularly in spatial reasoning and math, can also be present.

Diagnosis is usually made through genetic testing, such as a karyotype, which analyzes chromosomes. There is no cure for Turnersyndrooma, but treatments are available to manage symptoms and improve quality of life. Hormone replacement therapy, particularly growth hormone and estrogen therapy, can help with growth and the development of secondary sexual characteristics. Regular medical check-ups are important to monitor for and manage associated health problems. Early diagnosis and intervention are key to optimizing outcomes for individuals with Turnersyndrooma.