Azoospermic men with deletion of the DAZ gene cluster are capable of completing spermatogenesis: fertilization, normal embryonic development and pregnancy occur when retrieved testicular spermatozoa are used for intracytoplasmic sperm injection |
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Authors: | Mulhall JP; Reijo R; Alagappan R; Brown L; Page D; Carson R; Oates RD |
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Institution: | Department of Urology, Boston University School of Medicine, MA, USA. |
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Abstract: | Some men with non-obstructive azoospermia harbour fully formed spermatozoa
within their testicular tissue that can be used to achieve pregnancy via
intracytoplasmic sperm injection (ICSI). Recently, Reijo et al. (1995)
provided compelling evidence that the DAZ gene cluster is a strong
candidate for one of the elusive azoospermia factors (AZF) located on the
long arm of the Y chromosome. The DAZ gene cluster is deleted in 13% of
azoospermic men and a small percentage of severely oligozoospermic men.
Vertical transmission from father to son of AZF region deletions has also
been described. Presumably these fathers were oligozoospermic. This led us
to ask whether the azoospermic male with deletions of the AZF/DAZ region
can also complete minimal spermatogenesis and whether any spermatozoa found
could participate in fertilization, embryo development and pregnancy. Three
out of six (50%) of the azoospermic men with AZF/DAZ deletions had
spermatozoa identified within their harvested testicular tissue. When these
spermatozoa were used for ICSI, fertilization occurred in 36% of injected
oocytes. This compared favourably with testicular spermatozoa retrieved
from non-obstructive azoospermic men without AZF/DAZ gene deletions. In one
case, a twin conception resulted, which represents the first term pregnancy
reported using spermatozoa from an AZF/DAZ deleted azoospermic male.
Therefore it is necessary to take the possibility of transmission of
infertility or sterility to our patients' offspring seriously when
utilizing today's reproductive technologies, as spermatogenesis in men with
AZF/DAZ deletions is by no means an exceptional occurrence.
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