Y chromosome analysis of infertile men and their sons conceived through intracytoplasmic sperm injection: vertical transmission of deletions and rarity of de novo deletions

Citation
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
Citations number
31
Categorie Soggetti
Reproductive Medicine","da verificare
Journal title
FERTILITY AND STERILITY
ISSN journal
00150282 → ACNP
Volume
74
Issue
5
Year of publication
2000
Pages
909 - 915
Database
ISI
SICI code
0015-0282(200011)74:5<909:YCAOIM>2.0.ZU;2-R
Abstract
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.)