Phenotype Manifestations of Polysomy X At Males

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.