Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletions
Ds. Cram et al., Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletions, FERT STERIL, 74(5), 2000, pp. 909-915
Objective: To determine the prevalence and type of Yq microdeletions in 86
consecutive men that fathered 99 sons by intracytoplasmic sperm injection (
ICSI) and to determine the incidence of vertical transmission and de novo d
eletions in these boys.
Design: Prospective clinical observational study.
Setting: Genetics laboratory associated with a university IVF unit.
Patient(s): Eighty-six consecutive infertile men presenting to an IVF clini
c and their 99 ICSI-conceived sons. Fifty of the 86 men (588) had idiopathi
c seminiferous tubule failure (STF); the remainder had a variety of other c
linical indications fur ICSI.
Intervention(s): Collection of peripheral and cord blood samples.
Main Outcome Measure(s): The Yq genetic status of fathers who underwent ICS
I and of their sons by the presence or absence of 22 Y-specific markers cov
ering the four azoospermia factor (AZF) subregions.
Result(s): Yq deletions of the AZFd/c region were detected in two (6.9%) of
29 azoo- or severely respective sons. No de novo deletions were oligospcrm
ic Inen with STF. Identical deletions were found in their detected in the r
emaining 97 sons conceived by men without deletions.
Conclusion(s): The detection of Yq deletions only in men with severe STF is
consistent with previous studies, with the AZFd/c region being most common
ly affected. This study demonstrates the vertical transmission of these Yq
deletions through the use of ICSI and supports the notion that, in most cas
es, Yq deletions will be inherited by male offspring. The absence of de nov
o Yq deletions in the male offspring indicates that these events are rare f
ollowing ICSI in men with both STF and other common male factor indications
. (Fertil Steril(R) 2000;74:909-15. (C) 2000 by American Society for Reprod
uctive Medicine.)