REVIEW ARTICLE Genetic Basis of Male Infertility

Responsible chromosomal abnormalities are: Numerical abnormalities i). Klienfelter's Syndrome: ( 47 XXY):This syndrome is found in approximately 1 in 500 males and in the result of non-disjunction of the X chromosome during meiosis. This is the most sex chromosomal abnormality detected in men with non-obstructive azoospermia (NOA). Usual features are raised serum levels of gonadotropins, reduced serum levels of testosterone, and reduced testicular volume, libido, hypoandrogenization and almost total atrophy of seminiferous tubules. Most men are azoospermic and some are oligospermic. In 50% cases of Klinfelter's syndrome sperm found upon testicular sperm extraction (TESE). The sperm can serve as the source of the male gamete to establish pregnancy with ICSI3. ii). XX males a variant of Klinefelter's syndrome with small testes and associated with infertility. It occurs with translocated portion of the Y chromosome carrying the SRY gene. To date 46 XX males have been found to possess no level of spermatogenesis within harveste