Abstract
Klinefelter Syndrome is the most frequent form of male hypogonadism. It is an endocrine disorder based on sex chromosome aneuploidy. Infertility and gynaecomastia are the two most common symptoms that lead to diagnosis. Diagnosis of Klinefelter syndrome is made by karyotyping. Over 20 years period (1985-2004) 124 patients have been sent to "Center for Human Genetics" of Faculty of Medicine in Sarajevo from different medical centres within Federation of Bosnia and Herzegovina with diagnosis suspecta Klinefelter syndrome, azoospermia, sterilitas primaria and hypogonadism for cytogenetic evaluation. Normal karyotype was found in 99 (79.8%) subjects, and karyotype was changed in 25 (20.2%) subjects. Polysomy X was found in 14 (11.3%) examinees. Polysomy X was expressed at the age of sexual maturity in the majority of the cases. Our results suggest that indication for chromosomal evaluation needs to be established at a very young age.
Highlights
Structural changes in gonosomes (X and Y) cause different distribution of genes, which may be exhibited in various phenotypes
Klinefelter syndrome is the most common chromosomal disorder associated with male hypogonadism
Very high incidence indicates that the zygotes with Klinefelter syndrome are more vital than those with other chromosomal aberrations
Summary
Structural changes in gonosomes (X and Y) cause different distribution of genes, which may be exhibited in various phenotypes. Klinefelter syndrome is the most common chromosomal disorder associated with male hypogonadism. Very high incidence indicates that the zygotes with Klinefelter syndrome are more vital than those with other chromosomal aberrations. In (Jacobs & Strong), these men with Klinefelter syndrome were discovered to have an extra sex chromosome (genotype XXY) instead of the usual male sex complement (genotype XY) ( , ). Klinefelter syndrome is caused by the presence of an additional X chromosome in a male. Degeneration of seminiferous tubules in ,XXY males is a well-described phenomenon. The decreased testosterone can lead to breast development (gynaecomastia), decreased libido, incomplete masculinization, female body hair distribution (sparse facial, armpit and pubic hair) ( , ). The basic goal of this study is to evaluate cytogenetic findings in patients who have been sent to “Centre for Human Genetics” of Faculty of Medicine in Sarajevo from different medical centres within Federation of Bosnia and Herzegovina with diagnosis suspecta Klinefelter syndrome, azoospermia, sterilitas primaria and hypogonadism
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
