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Turner syndrome (TS), named after Dr. Henry Turner who first described it in 1938, is a chromosomal disorder that affects females. It results from a complete or partial absence of one of the two X chromosomes, leading to a variety of medical and developmental issues. This condition, also known as monosomy X or 45,X, is characterized by short stature, delayed puberty, infertility, heart defects, and certain learning disabilities.
Turner syndrome is the most common sex chromosome abnormality in females, occurring in approximately 1 in 2,000 to 1 in 2,500 live female births. Despite the physical challenges and health risks associated with TS, many individuals with this condition lead healthy and fulfilling lives with appropriate medical care and support.
The syndrome's manifestations can vary significantly from person to person, and not all individuals will have all the features typically associated with TS. Early diagnosis and comprehensive care, including growth hormone therapy, estrogen replacement therapy, and regular medical check-ups, can help manage the symptoms and reduce the risk of associated health problems.
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Definition | Turner syndrome (TS), also known as congenital ovarian hypoplasia syndrome, is the most common sex chromosomal abnormality in females. It is characterized by partial or complete monosomy-X.... |
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