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Catalog
PPM -Test 2
Description and References
Description and References
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Pdf Summary
Turner Syndrome is a genetic disorder affecting females characterized by the absence or partial absence of the second sex chromosome. Common features include growth failure, pubertal delay, infertility, lymphedema, heart defects, and learning disabilities. The clinical diagnosis involves various criteria beyond typical features. Different karyotypes are seen in affected women, with various genetic abnormalities contributing to the syndrome. Excluded from the definition are individuals without typical features and phenotypic males. Comprehensive multidisciplinary care is recommended to manage the complex health issues associated with Turner Syndrome as affected individuals age. Clinical guidelines from the Turner Syndrome study group and the International Turner Syndrome Consensus Group provide recommendations for the diagnosis and management of individuals with this condition. Discussions around fertility preservation may be important for females with Turner Syndrome, highlighting the need for specialized care and considerations. Multidisciplinary care is crucial in addressing the diverse health implications of Turner Syndrome as individuals navigate various life stages.
Keywords
Turner Syndrome
Genetic disorder
Absence of second sex chromosome
Growth failure
Pubertal delay
Infertility
Heart defects
Learning disabilities
Karyotypes
Fertility preservation
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