ARTERIAL OBSTRUCTION IN A KLINEFELTER SYNDROME PATIENT WITH RARE KARYOTYPE (48, XXYY)

Abstract

Introduction: Klinefelter syndrome, the first described chromosomal abnormality, is characterized with hypergonadotrophic hypogonadism and eunuchoid body habitus. Its prevalence is one in 500-1000 live births. The general abnormalities of Klinefelter syndrome are tall stature, eunuchoid body habitus, gynecomastia, decreased testis volume, sparse facial and pubic hair, personality and behaviourial problems. 47, XXY karyotype is detected in 80% of the patients, 20% of the patients have another numerical chromosomal abnormality among all patients. Classically, the number of extra X chromosomes correlates with more severe clinical findings. While classic Klinefelter syndrome patients (patients with 47, XXY karyotype) are diagnosed during the evaluation of infertility, while patients with karyotypes other than 47, XXY are diagnosed at an earlier period due to prominent clinical features. In this case report we present clinical and laboratory findings of a Klinefelter syndrome patient, who came to our clinic because of hypergonadotropic hypogonadism and tall stature, and was found to have 48, XXYY karyotype on conventional cytogenetic analyse.