Human Reproduction, Vol 13, 1887-1892, Copyright © 1998 by Oxford University Press
BE Reubinoff, D Abeliovich, M Werner, JG Schenker, A Safran and A Lewin
Non-mosaic Klinefelter patients are generally azoospermic due to primary
testicular failure. Nevertheless, in some cases, testicular spermatozoa may
be recovered and utilized to fertilize oocytes via intracytoplasmic sperm
injection (ICSI). As the risk for an increased number of gonosomes in these
spermatozoa is unclear, preimplantation genetic diagnosis (PGD) may be
attempted in the resulting embryos. In the present study, we report our
experience with the combined approach of sperm retrieval by testicular fine
needle aspiration (FNA), ICSI and PGD in seven consecutive non-mosaic
Klinefelter individuals. In four patients, between one and five spermatozoa
were retrieved in five out of nine consecutive attempts. In a fifth
patient, only 10 round spermatids could be isolated. Mature spermatozoa
were injected into a total of 16 metaphase-II oocytes, of which 11 (69%)
remained intact. Two distinct pronuclei (2PN) were observed in four oocytes
(36%) while a single pronucleus (1PN) was documented in two oocytes. Five
cleavage stage embryos developed from the oocytes of two couples. Upon the
request of one couple, their three embryos (two derived from 1PN oocytes)
were transferred without PGD but pregnancy was not achieved. PGD by
fluorescence in-situ hybridization (FISH) was performed in the two embryos
of the other couple which were derived from normal fertilization. PGD
results of one embryo were 18,18,X,X,Y, the embryo was not transferred and
FISH analysis of the remaining blastomeres identified variable chromosome
numbers in the nuclei. The second embryo was diagnosed as normal and was
transferred, resulting in a successful pregnancy and birth. In conclusion,
the results of this report indicate that a pregnancy and birth may be
attained in azoospermic non-mosaic Klinefelter individuals by testicular
FNA combined with ICSI. Due to the unknown risk of gonosomes aneuploidy in
embryos from Klinefelter patients, PGD or prenatal diagnosis should be
recommended.
ARTICLES
A birth in non-mosaic Klinefelter's syndrome after testicular fine needle aspiration, intracytoplasmic sperm injection and preimplantation genetic diagnosis
Department of Obstetrics and Gynaecology, Hadassah University Hospital, Ein Kerem, Jerusalem, Israel.
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