Intracytoplasmic sperm injection (ICSI) has been widely used as an effective tool in overcoming male infertility. ICSI raises the possibility of genetic transmission of infertility from father to son.
There have been instances in which subfertile men have similar deletions observed in lymphocyte and testicular DNA and male offspring have inherited the Y microdeletions from their father.
In this instance, Y microdeletion analysis provides a useful diagnostic tool in identifying these male patients so that proper counseling can be given before treatment by ICSI.
Azoospermia factor (AZF) refers to one of several proteins or their genes, which are coded from the AZF region on the human male Y chromosome. Deletions in this region are associated with inability to produce sperm.
Although the functions of the genes present in the AZF locus have yet to be determined the patterns of expression of these genes during spermatogenesis are likely to be the result of multiple processes that involve the developmental phases of spermatogenic cells (mitotic, meiotic and post-meiotic phases)and regulation of gene expression that occur at the transcription,translation and post-translation levels. The expression of thesegenes is primarily determined by the intrinsic genetic program of spermatogenetic cells, since azoospermic and severely oligozoospermic men with Y microdeletions are otherwise healthy and extrinsic factors that can affect spermatogenesis have been excluded.
The number of spermatozoa in some men with Y microdeletions have been observed to decrease over a period of time resulting in oligozoospermia and eventually azoospermia. Early detection of Y microdeletions in men and their ICSI offspring can improve the clinical management of these patients. Sperm cryopreservation and testicular biopsy are two possible options that can be considered before their condition deteriorates.
In conclusion, accurate interpretation of the results of molecular diagnosis of Y chromosomal microdeletions is necessary for clinical management. Phenotypic prognosis based on the pattern of Y microdeletions is rather subjective and inconclusive even though there is a cause and effect relationship between Y chromosomal microdeletions and male infertility.
A definite prognosis can only be made when a certain genotype is strongly correlated with a phenotype that is based not only on the pattern of Y microdeletions, but also the knowledge of how these genes function and regulate spermatogenesis.
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