A Case of Azoospermia Associated with Inversion of Chromosome 1

Nam, Yoon Sung; Kim, Nam Keun; Jeong, Chang Jin; Cha, Sun Hee; Jang, Sung Un; Cha, Kwang Yul

Abstract

Chromosomally derived sterility has long been recognized. A review of the literature of somatic chromosome investigations in infertile males has shown that 13.7% of azoospermic males and 4.6% of oligozoospermic males have an abnormal karyotype. In the first group, sex chromosome abnormalities predominate (mainly 47,XXY), whereas in the latter, autosome anomalies (i.e. Robertsonian and reciprocal translocations) are the most frequent. A similar review on meiotic studies revealed that meiotic chromosome anomalies can explain male infertility in 4.3-40.4% of patients. Recently, fluorescent in-situ hybridization studies on spermatozoa from infertile men were published; it was suggested that both X-Y pairing and pairing of the autosomes were impaired, resulting in spermatogenic disruption. It is estimated that there are 2,000 genes that regulate spermatogenesis, most of these being present on the autosomes, but there are approximately 30 genes on the Y chromosome. In general, autosomal genes that regulate spermatogenesis are concerned with regulation of metabolic processes in other cells in the body as well as in the cells of spermatogenesis, whereas Y genes are not essential for vital functions related to reproduction. To be able to provide proper counseling for those couples whose male infertility can now be treated by intracytoplasmic sperm injection, it is suggested that clinical investigations should include mitotic and meiotic studies, an analysis of the chromosome content of individual spermatozoa and a DNA analysis of blood and spermatozoa to detect partially deleted Y chromosome material. We have experienced a case of azoospermia associated with inversion of chromosome 1. So we report this case with a brief review of literatures.