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Description and References
Description and References
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Turner syndrome is a common disorder characterized by aneuploidy of the sex chromosomes, specifically a complete or partial absence of the second sex chromosome in phenotypic females. It affects 1 in 2500 to 1 in 4000 live-born females. The clinical features of Turner syndrome vary, but typically include growth failure, pubertal delay, infertility, lymphedema, heart defects, and learning disabilities. However, the inclusion criteria for Turner syndrome have been broadened to include additional features such as linear growth failure, early sensorineural hearing loss, distinctive congenital anomalies, and other associated disorders like hypothyroidism and celiac disease. <br /><br />Different karyotypes can be present in women with Turner syndrome, with the most common being 45,X, followed by various forms of mosaicism and other chromosomal abnormalities. The diagnosis of Turner syndrome specifically excludes those without clinical features, phenotypic males, individuals with small terminal deletions of Xp without short stature, and those with deletion of Xq but without short stature or other features.<br /><br />Multidisciplinary care is recommended for individuals with Turner syndrome as they age, to help reduce morbidity and mortality associated with the disorder. Guidelines for the diagnosis and clinical management of Turner syndrome have been established, including recommendations for healthcare providers to evaluate the clinical diagnosis and use appropriate guidelines for management.<br /><br />Several studies have been conducted on Turner syndrome, including guidelines published by the Turner Syndrome Consensus Study Group and the International Turner Syndrome Consensus Group. These guidelines provide recommendations for the care of girls and women with Turner syndrome. Additionally, there have been studies on fertility counseling and preservation for females with Turner syndrome in pediatric centers.<br /><br />Overall, Turner syndrome is a complex disorder that requires careful evaluation and management to ensure the best possible outcomes for affected individuals.
Keywords
Turner syndrome
aneuploidy
sex chromosomes
phenotypic females
growth failure
pubertal delay
infertility
heart defects
learning disabilities
karyotypes
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