Welcome back to the second crash course on sex chromosome abnormalities! This video covers the most common male sex chromosome abnormality - Klinefelter syndrome. Individuals with Klinefelter syndrome have one Y chromosome but more than one X chromosome. This video briefly explores chromosomes and then discusses the basics of Klinefelter syndrome, its diagnosis, symptoms, treatment, and areas for further research.
Check out the first video in this series “Turner Syndrome 101”:
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This video was made by McMaster students Sarah Afshar, Rachel Carson, Emma Koster, and Nathalia Kulatunga in collaboration with the McMaster Demystifying Medicine Program.
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This video is provided for general and educational information only. Please consult your health care provider for Information about your health.
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References:
Bojesen, A., & Gravholt, C. (2007). Klinefelter syndrome in clinical practice. Nature Clinical Practice Review Urology, 4: 192–204. [ Ссылка ]
Chang, S., Skakkebæk, A., & Gravholt, C. H. (2015). Klinefelter syndrome and medical treatment: hypogonadism and beyond. Hormones, 14(4): 531-548. [ Ссылка ]
Davis, S., Howell, S., Wilson, R., Tanda, T., Ross, J., Zeitler, P., & Tartaglia, N. (2016). Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome. Advances in pediatrics, 63(1), 15–46. [ Ссылка ]
Gravholt, C. H., Chang, S., Wallentin, M, Fedder, J., Moore, P., & Skakkebæk, A. (2018). Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology. Endocrine Reviews, 39(4): 389–423. [ Ссылка ]
Groth, K. A., Skakkebæk, A., Høst, C., Gravholt, C. A., & Bojesen, A. (2013). Klinefelter Syndrome—A Clinical Update. The Journal of Clinical Endocrinology & Metabolism, 98(1): 20-30. [ Ссылка ]
Hawksworth, D. J., Szafran, A. A., Jordan, P. W., Dobs, A. S., & Herati, A. S. (2018). Infertility in Patients With Klinefelter Syndrome: Optimal Timing for Sperm and Testicular Tissue Cryopreservation. Reviews in Urology, 20(2), 56–62. [ Ссылка ]
Pizzocaro, A., Vena, W., Condorelli, R., Radicioni, A., Rastrelli, G., Pasquali, D., Selice, R., Ferlin, A., Foresta, C., Jannini, E. A., Maggi, M., Lenzi, A., Pivonello, R., Isidori, A. M., Garolla, A., Francavilla, S., & Corona, G. (2020). Testosterone treatment in male patients with Klinefelter syndrome: A systematic review and meta-analysis. Journal of Endocrinological Investigation, 43(12), 1675–1687. [ Ссылка ]
Ratcliffe, S. (1999). Long term outcome in children of sex chromosome abnormalities. Archives of Disease in Childhood, 80(2): 192-195. [ Ссылка ]
Smyth, C. M., & Bremner, W. J. (1998). Klinefelter Syndrome. Archives of Internal Medicine, 158(12): 1309–1314. [ Ссылка ]
