Human Reproduction Update, Vol.5, No.2 pp.120-140, 1999
© European Society of Human Reproduction and Embryology 1999; all rights reserved
Developmental and genetic disorders in spermatogenesis
0 Department of Physiology and Biophysics and Department of Urology, University of Illinois at Chicago (UIC), College of Medicine, 1819 West Polk Street, Chicago, IL 60611, USA 1 Department of Urology, University Hospital, Justus-Liebig-University Giessen, Klinikstrasse 29, 35392 Giessen, Germany 2 Corresponding author at: Department of Physiology and Biophysics, University of Illinois at Chicago (UIC), College of Medicine, Room 150 CMW, 1918 West Polk Street, Chicago, IL 60612, USA e-mail: tdiemer@uic.edu
Abstract
The most common cause of male infertility is idiopathic. Fresh insights based on genetic and molecular analysis of the human genome permit classification of formerly unexplained disorders in spermatogenesis. In this article, we review new procedures that expand diagnostic and therapeutic approaches to male infertility. Recombinant DNA technology makes it possible to detect specific chromosomal and/or genetic defects among infertile patients. The identification of genes linked to disorders in spermatogenesis and male sexual differentiation has increased exponentially in the past decade. Genetic defects leading to male factor infertility can now be explained at the molecular level, even though the germ cell profile of infertile patients is too variable to permit classification of the clinical phenotype. Increasing knowledge of genes that direct spermatogenesis provides important new information about the molecular and cellular events involved in human spermatogenesis. Molecular analysis of chromosomes and/or genes of infertile patients offers unique opportunities to uncover the aetiology of genetic disorders in spermatogenesis. Increasing numbers of cases, previously classified as idiopathic, can now be diagnosed to facilitate the treatment of infertile men. Advanced knowledge also poses ethical dilemmas, since children conceived with assisted reproductive technologies such as intracytoplasmic sperm injection (ICSI) are at risk for congenital abnormalities, unbalanced complements of chromosomes and male infertility.
Keywords: chromosomal aberrations/infertility/male sexual differentiation/microdeletions/testis
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