Clinical and cytogenetic variations in male infertility caused by Klinefelter syndrome

Abstract

Introduction. Klinefelter’s syndrome (KS) is the most common genetic cause of human male infertility characterized by gynecomastia, hypogonadism and azoospermia. About 80–90% of patients with Klinefelter's syndrome have an homogenous 47,XXY karyotype, the classic form of Klinefelter's syndrome. The prevalence of Klinefelter's syndrome is 1 in 700 men. Many patients with Klinefelter syndrome remain undiagnosed due to clinical variations.Aim of the study. The purpose of this study is to establish the peculiarities of clinical and cytogenetic variations in male infertility caused by Klinefelter's syndrome Materials and methods. A group of 75 men suspected with Klinefelter syndrome was clinically-genetically assessed during medical genetic counseling at the Center for Reproductive Health and Medical Genetics of the Institute of Mother and Child. Karyotyping of peripheral blood lymphocytes according to standard methods G was used for confirmation of diagnosis. Results. The average age of patients with Klinefelter syndrome was 32.7, the main reason for consulting was infertility. The most common chromosomal abnormality diagnosed in the 35 patients with Klinefelter syndrome was homogeneous trisomy 47,XXY (30 cases - 85.7%), followed by mosaic form (47,XXY/46,XY: 3 case), polysomy X-Y (48,XXYY: 1 case and pentasomy - 49,XXXXY: 1 case). The main phenotypic aspects in men with KS were: hypogonadism, gynecomastia, azoospermia, decreased penis size, mental retardation, increase level of FSH. Most patients with Klinefelter syndrome were significantly taller than patients with normal karyotypes. Conclusions. Medical genetic counseling and cytogenetic analyzes (karyotyping) are necessary for confirmation of clinical diagnosis in patients suspected with Klinefelter's syndrome.