Y-chromosome deletions in idiopathic severe testiculopathies

A genetic etiology has been recently proposed for some severe forms of idiopathic male infertility and a region of the Y chromosome long arm (Yq) defined AZF is thought to be critical for the regulation of spermatogenesis. To date, two genes, YRRM and DAZ, have been identified in AZF, but the actual relationship between genotype and phenotype related to AZF deletions is not well characterized. By means of a PCR strategy we typed Yq microdeletions in 16 azoospermic and 22 severely oligozoospermic subjects whose testicular cytological picture (assessed by fine needle aspiration) was that of Sertoli cell-only syndrome and severe hypospermatogenesis, respectively. Microdeletions in AZF were found in 37.5% of azoospermic men and in 22.7% of severely oligozoospermic men, suggesting that very frequently these genetic abnormalities determine a severe quantitative defect in spermatogenesis. Furthermore, DAZ and YRRM do not seem to be the sole genes regulating spermatogenesis, as deletions in these genes were observed in only 6 of the 11 deleted cases. No correlation between the spermatogenic defect and the type of Yq deletion exists. Intracytoplasmic sperm injection performed using spermatozoa of these Y-deleted patients will invariably pass this defect onto their male offspring. Screening for deletion within AZF or at least an informed consent should, therefore, be obtained in all idiopathic infertile male undergoing a program of intracytoplasmic sperm injection of a spermatozoon into the oocyte.

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PMID: 9100576 DOI: 10.1210/jcem.82.4.3798
[Indexed for MEDLINE]