The value of chromosomal analysis in oligozoospermic men

Capsule:
We found that in oligozoospermic male intracytoplasmic sperm injection candidates, the abnormal karyotype rate was <2%. The small risk of conceiving a child with unbalanced structural chromosomal abnormalities may not justify karyotyping these men. Authors:
Çarcia Stegen, M.D., Minouche M.E. van Rumste, M.D., Ben Willem J. Mol, M.D., Ph.D., Carolien A.M. Koks, M.D., Ph.D.

Volume 98, Issue 6, Pages 1438-1442, December 2012

Abstract:

Objective:
To determine the prevalence of chromosomal abnormalities in relation to sperm concentration in subfertile oligozoospermic men.

Design:
Retrospective cohort study.

Setting:
Two teaching hospitals.

Patients:
We retrospectively studied all men who received chromosomal analysis prior to intracytoplasmic sperm injection (ICSI) treatment from 2000 till 2010 in two teaching hospitals.

Interventions:
None.

Main outcome measures:
The results of chromosomal analysis and semen analysis were recorded. The frequency of abnormal karyotypes was analysed in relation to the sperm concentration, categorized as extreme oligozoospermia (>0-≤1 million/ml), severe oligozoospermia (>1-≤5 million/ml), moderate oligozoospermia (>5-≤20 million/ml) or normospermia (>20 million/ml).

Results:
Among 582 male ICSI candidates, the rates of abnormal karyotypes were 1.2% (2/162), 2.2% (5/227) and 1.5% (2/130) for men with extreme, severe and moderate oligozoospermia. No abnormalities were present in normospermic men.

Conclusions:
The risk of conceiving a viable child with unbalanced structural chromosomal abnormalities in men with oligozoospermia may not justify karyotyping.

  • Jim Hotaling

    This article is interesting in that it exposes multiple aspects of the difficulties inherent in genetic testing. First of all, the cost, 700 euros is a significant cost for both the patient and/or the healthcare system to bear. The article also astutely points out that a significant portion of patients will choose to proceed with ART regardless of what the tests show. This, in combination with the low incidence of these disorders, even among men with low sperm counts, calls the authors to question the utility of these tests. However, we cannot extrapolate to other populations of men given that there may be significant differences in the rates of these mutations among groups of men with different ethnicities. One of the most interesting aspects of the articles was the non-linear relationship of decreasing sperm count and frequency of these relationships. I would be interested to query the authors on what the driving forces of this may be.

  • laurenwroth

    This study has really interesting findings. I certainly expected a higher rate of chromosomal abnormalities than what was found in the study. Based on the information here, it does not seem cost effective to screen all men undergoing ICSI with chromosomal screening. It still seems worthwhile to screen men with extremely low sperm counts as the information could be important for preconception counseling.

  • again, love the format here…an article followed by some expert opinion commentary…in this case Dr SchelgeI…this article and discussion about oligozoospermia always remind me of the state of the nomenclature that we use to describe male factor infertility…WHO uses oligo (less than reference range) and azospermia (no sperm) severe oligo is not a WHO term but has been used as a cut-off value to guide testing (i.e for karyotype and Ycs del…see the 2012 ASRM committee opinion on diasgnostic eval of male)

    Also this topic reminds me of a D Grimes article I came across as a first year REI fellow and in particular the letter in response which I have can be found here: Fertility and Sterility Volume 89, Issue 5, May 2008, Pages 1278

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