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Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Abstract summary

Detection of Y-chromosome microdeletion is useful to obtain reliable genetic information for assisted reproductive techniques, thus avoiding unnecessary treatment and vertical transmission of genetic defects.

Purposes

This research was conducted over a six-year period to analyze clinical data, somatic cytogenetic abnormalities, and types of microdeletions in men with fertility disorders in Iran.

Methods and Patients

A total of 3654 infertile men were included in this study. Semen samples were analyzed according to standard methods. Conventional chromosomal karyotyping was used to analyze chromosome abnormalities. Polymerase chain reaction (PCR) amplification using nine specific sequence-tagged sites (STS) was used to detect AZF microdeletions.

Results

Out of the 3654 patients who were analyzed, AZF region microdeletions were detected in 185 cases (5.06 %). Karyotype analysis was available for 157 men and among them abnormal karyotypes were found in 51 cases (32.48 %). One hundred and forty-seven cases with Yq microdeletions suffered from azoospermia and 38 from severe oligozoospermia. Our data show that the most frequent microdeletions were in the AZFc region, followed by the AZFb + c + d, AZFb + c, AZFb, AZFa, and AZF a + c regions.

Conclusion

The study has confirmed that the detection of microdeletions in the AZF region is significant from a diagnostic viewpoint. It is also useful to obtain reliable genetic information from infertile men to determine the etiology of the deletions, and to avoid unnecessary treatments and vertical transmission of genetic defects.

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Acknowledgements

We are grateful to Mrs. Manbajoud for her help. This study was funded by grants provided from Royan Institute.

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Authors and Affiliations

  1. Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, Tehran, Iran

    Mehdi Totonchi, Anahita Mohseni Meybodi, Parnaz Borjian Boroujeni, Navid Almadani & Hamid Gourabi

  2. Department of Stem Cells and Developmental Biology, Cell Science Research Center, Royan Institute for Stem Cell Biology and Technology, ACECR, Tehran, Iran

    Mehdi Totonchi

  3. Department of Andrology, Cell Science Research Center, Royan Institute, ACECR, Tehran, Iran

    Mohammad Sedighi Gilani

  4. Department of Genetics, Reproductive Biomedicine Research Center, Royan Institute for Reproductive Biomedicine, ACECR, P.O. Box 19395–4644, Tehran, Iran

    Hamid Gourabi

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  1. Mehdi Totonchi
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  2. Anahita Mohseni Meybodi
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Correspondence to Hamid Gourabi.

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Capsule

It is essential to investigate the frequency and types of both major cytogenetic abnormalities and AZF microdeletions of infertile males with azoospermia and oligozoospermia to perform appropriate genetic counseling before assisted reproduction techniques.

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Totonchi, M., Mohseni Meybodi, A., Borjian Boroujeni, P. et al. Clinical data for 185 infertile Iranian men with Y-chromosome microdeletion. J Assist Reprod Genet 29, 847–853 (2012). https://doi.org/10.1007/s10815-012-9798-7

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  • DOI: https://doi.org/10.1007/s10815-012-9798-7

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