PPM - Turner Syndrome (TS)-Description and References

Description and References
Pdf Summary
Turner Syndrome is a common disorder characterized by aneuploidy of the sex chromosomes. It affects phenotypic females and is characterized by physical features and the complete or partial absence of the second sex chromosome. The disorder affects 1 in 2500 to 1 in 4000 live-born females.<br /><br />The clinical features of Turner Syndrome can vary widely and may include growth failure, pubertal delay, infertility, lymphedema of the hands and/or feet, structural heart defects, learning disabilities, and other associated disorders such as hypothyroidism and celiac disease. The definition of Turner Syndrome has been broadened to include additional features such as linear growth failure, early hearing loss, distinctive congenital anomalies, and a neurodevelopmental profile.<br /><br />Women with Turner Syndrome may present with different karyotypes, including 45,X, mosaicism with 45,X/46,XX or "47,XXX", mixed gonadal dysgenesis, deletion of Xp22.3, ring X chromosome, isochromosome Xq, and unbalanced X-autosome translocation.<br /><br />The diagnosis of Turner Syndrome specifically excludes those with a 45,X cell line without clinical features, phenotypic males, individuals with small terminal deletions of Xp that don't include Xp22.3, and individuals with primary or secondary amenorrhea with deletion of Xq distal to Xq24 without short stature or other Turner Syndrome features.<br /><br />Multidisciplinary care is important in managing Turner Syndrome as different systems are affected with aging. This care aims to reduce the morbidity and mortality associated with the disorder.<br /><br />Guidelines for the diagnosis and clinical management of Turner Syndrome have been developed by the Turner Syndrome Consensus Study Group. These guidelines provide recommendations for the care of girls and women with Turner Syndrome. Other studies have also contributed to updating clinical care practices for Turner Syndrome.<br /><br />Fertility counseling and preservation discussions are important topics for females with Turner Syndrome, particularly in pediatric centers. Practice patterns and predictors of fertility counseling have been studied in this population.
Keywords
Turner Syndrome
aneuploidy
sex chromosomes
phenotypic females
second sex chromosome
growth failure
pubertal delay
infertility
lymphedema
heart defects