Genetic screening in the ASRM’s new guidelines on diagnostic evaluation of the infertile male

18 12 2012

To the Editor:

I read with interest the new ASRM Practice Committee opinion report on diagnostic evaluation of the infertile male (1). Considering the importance of these guidelines for clinical practice, I should draw attention to inaccuracies and outdated information in the section related to genetic screening.

In the section on Y-chromosome microdeletions (YMD), the report states:  “Microdeletions of clinically relevant regions of the Y chromosome have been found in 7% of infertile men with severely impaired spermatogenesis compared with 2% of normal men. However, the percentage of men with Y-chromosome microdeletions increases to 16% in men with azoospermia or severe oligospermia.” This statement referring to Y-chromosome microdeletions in normal men is new in relation to previous ASRM opinions on male infertility and azoospemic males (2). Another section states that “… some Y-chromosome microdeletions are rarely found in fertile or subfertile males who have fathered children.”

The section regarding the normal male references an article in The New England Journal of Medicine (4) that found “Y-chromosome microdeletions” in 4 of 200 (2%) “normal men” (without screening sperm quality in them), but only in 2 Y-chromosome markers; 2 had deletions in  sY207, and 2 had deletions in sY272. The section referring to males with YMD who fathered children references the same article (3) and another (4), the “AZFd” article, which only reported the absence of single markers in 4 of 320 controls in sY269 and in 2 other individuals in sY207 and sY272. The existence of AZFd region in Y chromosome was not confirmed. In addition, these supposed “partial deletions” are not supported by the known mechanism of production of YMD (5) and the practice guidelines for YMD testing (6). Read the rest of this entry »