Genetic abnormalities and male infertility. A comprehensive review.

The development of assisted reproductive technologies, such as intracytopla smic sperm injection (ICSI) substantially improved the outlook for patients with severe male fertility problems. However this implies that for the fir st time genetic defects associated with male in- or subfertility might be t ransmitted to offspring and result in genetic disease [de Kretser DM, The p otential of intracytoplasmic sperm injection (ICSI) to transmit genetic def ects causing male infertility. Reprod Fertil Dev 1995;7:137-142]. The knowl edge of male specific fertility genes on the Y chromosome increased enormou sly in the last decade. The SRY gene plays a critical role in gonadal diffe rentiation. DAZ, SPGY and related genes on the Y chromosome are very import ant for spermatogenesis. Interstitial Y-chromosomal microdeletions encompas sing the AZFa, b or c region have become an additional class of genetic abn ormalities causing male infertility. A review is given of the different gen etic aspects of male infertility. (C) 1998 Elsevier Science Ireland Ltd. Al l rights reserved.