Screening for AZF deletion in a large series of severely impaired spermatogenesis patients

Recent investigations have pointed to a high prevalence of Y chromosome submicroscopic deletions in men with severely impaired spermatogenesis. We report on the incidence in 128 infertile men, in whom karyotype, sperm count, and hormonal parameters were evaluated. Patients with abnormal karyotype (o...

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Published in:Journal of andrology 2000-09, Vol.21 (5), p.651-655
Main Authors: Martinez, M. C, Bernabe, M. J, Gomez, E, Ballesteros, A, Landeras, J, Glover, G, Gil-Salom, M, Remohi, J, Pellicer, A
Format: Article
Language:English
Subjects:
Azoospermia
Biological and medical sciences
Birth control
Chromosome Aberrations - genetics
Follicle Stimulating Hormone - blood
Gene Deletion
Genetic Testing
Gynecology. Andrology. Obstetrics
Humans
Infertility, Male - etiology
Male
male infertility
Medical sciences
Oligospermia - blood
Oligospermia - complications
Oligospermia - genetics
Oligospermia - physiopathology
Spermatogenesis
Sterility. Assisted procreation
Y chromosome
Y Chromosome - genetics
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Summary:Recent investigations have pointed to a high prevalence of Y chromosome submicroscopic deletions in men with severely impaired spermatogenesis. We report on the incidence in 128 infertile men, in whom karyotype, sperm count, and hormonal parameters were evaluated. Patients with abnormal karyotype (other than an abnormal Y chromosome) or sperm concentration of more than 2 million/mL were excluded. Genomic DNA was extracted from the peripheral leukocytes of 57 men with azoospermia and 71 with severe oligospermia. Molecular analysis was performed by 3 multiplex polymerase chain reactions using a set of 9 sequence tagged sites (STSs) from 3 different regions of the Y chromosome: AZFa, AZFb, and AZFc. In 7% of the studied patients Yq microdeletions were detected, with a high prevalence in men with azoospermia (14%). No deletions were detected in the AZFa region. Deletions were present in AZFb, AZFc, or both regions. The deletion observed in 1 patient that did not overlap with the DAZ region demonstrates that genes other than DAZ may also be involved in the pathogenesis of some subsets of male infertility. Furthermore, common Yq deletions present different testicular pictures, suggesting that some unknown factors may be disturbing spermatogenesis. Because men with severe infertility suffer a high risk of Y chromosome deletion, screening for these men is recommended prior to treatment with assisted reproduction.
ISSN:0196-3635
1939-4640
DOI:10.1002/j.1939-4640.2000.tb02132.x