Bonnevie–Ullrich–Turner syndrome

Bonnevie-Ullrich-Turner syndrome, also known as Turner syndrome or Ullrich-Turner syndrome, is a genetic disorder that affects females. It is characterized by the partial or complete absence of one of the two X chromosomes normally present in females.

Causes

Turner syndrome is caused by the absence of all or part of one X chromosome. This can occur due to errors in the formation of the parent's reproductive cells or in early fetal development. The exact reason why these errors occur is unknown.

Symptoms

The symptoms of Turner syndrome can vary widely. Common symptoms include short stature, delayed puberty, infertility, heart defects, and certain learning disabilities. Some individuals with Turner syndrome may also have distinctive physical features such as a webbed neck, low-set ears, and swollen hands and feet.

Diagnosis

Turner syndrome is typically diagnosed through a genetic test known as a karyotype. This test examines the individual's chromosomes to determine if one of the X chromosomes is missing or partially missing. Other tests, such as ultrasound or echocardiogram, may be used to detect physical abnormalities associated with the syndrome.

Treatment

There is no cure for Turner syndrome, but treatments can help manage its symptoms. These may include hormone therapy to promote growth and sexual development, and surgery to correct heart defects. Regular medical care and monitoring are important to manage potential health complications.

Prognosis

With appropriate medical care and treatment, most individuals with Turner syndrome can lead healthy lives. However, they may face an increased risk of certain health problems, such as heart disease and osteoporosis.

See also

• Genetic disorders
• Chromosome abnormalities
• X chromosome

Bonnevie–Ullrich–Turner syndrome Resources
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