An autopsy case of Klinefelter's syndrome suspected and its DNA analysis

We experienced an autopsy case, small testes and tall stature, which sugges ted Klinefelter's syndrome. DNA analysis was performed to confirm the genet ic abnormality. Case History: A 28-year-old man who was single and lived wi th his parents. He suddenly lost his consciousness in a sitting room and di ed. Autopsy findings: He was 176 cm in height and 57 kg in weight. The post -mortem hypostasis was red-purple on his back, and rigor mortis was strong in each joint of the whole body. The heart weighted 340 g, in which dark re d fluidal blood (300 ml) without coagulation was contained. The testes were smaller than normal adult male (left and right testes with epididymides we ighted 8.1 g and 6.0 g, respectively). As a results of pathological examina tion, clumped Leydig cells, sclerotic and hyalined tubules were observed. S ome germ cells with spermatozoid were also present. DNA Analysis: Generally , Klinefelter's syndrome is determined by karyotype analysis and/or the det ection of sex chromatin. However, in this case, karyotype analysis and the detection of sex chromatin could not be demonstrated, because the blood whi ch was: collected in the autopsy became too old. Therefore, we tried sex de termination and STR analysis (HPRT, HUMARA and DXS 1470) using DNA extracte d from stored blood materials. Consequently, in the sex determination, no d ifferent situation was found in the X- and Y-specific bands from normal mal e's and as results of STR analyses, we could nut corroborate the Klinefelte r's syndrome. (C) 2000 Elsevier Science Ireland Ltd. All rights reserved.