Turner's syndrome

Turner's syndrome is a chromosomal disorder affecting females, characterized by the partial or complete absence of one of the two X chromosomes. It is named after Henry H. Turner, the endocrinologist who first described the condition in 1938.

Characteristics

Turner's syndrome is associated with a variety of physical and developmental traits, including short stature, gonadal dysgenesis, and a broad chest with widely spaced nipples. Other common features include a low hairline, low-set ears, and a webbed neck. Many individuals with Turner's syndrome also have lymphedema, a condition characterized by swelling in the hands and feet.

Causes

Turner's syndrome is caused by the absence of all or part of one X chromosome. This can occur as a result of a random event during the formation of the egg or sperm, or it may occur early in fetal development. In some cases, individuals with Turner's syndrome have a mosaic pattern of X chromosomes, meaning some cells have two X chromosomes while others have only one.

Diagnosis

Turner's syndrome is typically diagnosed through a karyotype test, which examines the number and structure of an individual's chromosomes. This test can be performed before birth through amniocentesis or chorionic villus sampling, or it can be performed after birth if the individual exhibits characteristic physical or developmental traits.

Treatment

There is no cure for Turner's syndrome, but there are treatments available to manage its symptoms. Growth hormone therapy can help increase height, and estrogen replacement therapy can promote the development of secondary sexual characteristics. Regular monitoring and treatment of potential complications, such as heart and kidney problems, is also important.

Prognosis

With appropriate medical care and support, individuals with Turner's syndrome can lead healthy, productive lives. However, they may face challenges related to learning, social interaction, and fertility.

See also

• Chromosomal disorder
• X chromosome
• Henry H. Turner
• Gonadal dysgenesis
• Lymphedema
• Karyotype
• Amniocentesis
• Chorionic villus sampling