48 / xxyy male case with primary infertility

Klinefelter syndrome is a sex chromosomal aneuploidies with at least one extra X chromosome than normal male karyotype. The classic form of the 47 / XXY karyotype, the incidence of this syndrome is one in 500-1000 live male births. The incidence of 48 / XXYY male individuals with many phenotypic features of Klinefelter syndrome is extremely rare and occurs in 1: 18000 -1: 100.000 men. However, they differ from Klinefelter syndrome with serious behavioral problems, mental reterdation and susceptibility to psychiatric diseases [1 ]. A 38-year-old man, referred to our Medical Biology and Genetics laboratory for karyotype analysis with primary infertility. He had undergone varicocele surgery and had high levels of FSH, low levels of testosterone and high levels of LH. Semen analysis demonstrated azoospermia In the psychiatric examination of the patient, whose IQ level was 90, language, learning and behavior disorder were diagnosed. The patient with deep vein thrombosis was recommended angiography because of right heart failure. Karyotype analysis revealed with 48,XXYY. This rare case shows the importance of karyotype analysis in diagnosis. In this study, the clinical and laboratory findings of the case are presented with the literature.