KLINEFELTER SYNDROME: ETIOLOGY AND PREVENTION
Abstract
Klinefelter syndrome (KS) is one of the most common sex chromosome aneuploidies affecting males and is most frequently characterized by the 47,XXY karyotype. The condition is associated with hypogonadism, infertility, metabolic disorders, and neurocognitive impairments. Despite its relatively high prevalence, Klinefelter syndrome often remains underdiagnosed. This article provides an evidence-based overview of the etiology, genetic mechanisms, clinical significance, diagnostic approaches, and preventive strategies related to Klinefelter syndrome, in accordance with contemporary medical literature.
References
1. Lanfranco F, Kamischke A, Zitzmann M, Nieschlag E. Klinefelter’s syndrome. Lancet. 2004;364:273–283.
2. Nieschlag E, Ferlin A, Gravholt CH, et al. Klinefelter syndrome: current management and research challenges. Endocr Rev. 2016;37:113–144.
3. Groth KA, Skakkebæk A, Høst C, Gravholt CH, Bojesen A. Clinical review: Klinefelter syndrome. J Clin Endocrinol Metab. 2013;98:20–30.
4. Visootsak J, Graham JM. Klinefelter syndrome and other sex chromosomal aneuploidies. Orphanet J Rare Dis. 2006;1:42.
5. Makhamatov U. Anemia Disease and Rational Nutrition in it. – 2023.
6. Maxamatov U., To‘lkinov I., Xabibullayeva M. Eating Habits in Hematological Diseases. – 2023.
7. Maxamatov U. S. Treatment of Triggeral Helmintosis in Children and Adolescents Using Folk Medicine. – 2023
