Spermatological characteristics of mosaic and non-mosaic forms of Klinefelter syndrome

Abstract

The study objectiveis to compare of ejaculate parameters in mosaic, non-mosaic Klinefelter syndrome (KS).Materials and methods. Eighty-five patients with KS were examined. The group 1 included 75 patients between the ages of 17 and 39 with non-mosaic KS (47,XXY), the group 2 included 10 males between the ages of 22 and 57 years with mosaic KS: 47,XXY/46,XY (n = 9), 48,XXY,der(X)/47,XXY/46,XY (n = 1).Results. KS patients semen volume was 1.9 ± 1.3 (0.1–5.5) ml in non-mosaic KS patients (47,XXY) and 1.5 ± 1.2 (0.05–4.00) ml in patients with a mosaic form of a KS, respectively, рН semen – 7.8 ± 0.5 (6.5–9.0) and 7.8 ± 0.2 (7.5–8.1), sperm count – 0.27 ± 1.42 (0.00–12.50) and 0.12 ± 0.28 (0.00–0.90) million/ml, respectively. The viscosity was increased (>20 mm) at 41 % non-mosaic KS (group 1) and 22 % of mosaic KS (group 2) patients. The ejaculate sediment was investigated by quantitative karyological analysis of immature germ cells. The germ cells in 42 % samples of the ejaculate of the patients with a classical form of a KS and in 20 % samples of the ejaculate of the patients with a mosaic form was found. That indicates a partial preservation of spermatogenesis.Conclusion. The degree of spermatogenesis depletion in KS patients widely varied, ejaculate and germ cell parameters in the ejaculate sediment weren’t significantly different. Presence of few sperms (cryptozoospermia) and immature cells in the ejaculate sediment point to partial preservation of spermatogenesis.