Y-chromosome microdeletions and recurrent pregnancy loss.
OBJECTIVE
To determine the prevalence of Y-chromosome microdeletions in recurrent pregnancy loss (RPL) couples as compared with couples with male factor infertility and fertile couples.


METHODS
Controlled clinical study.


METHODS
Andrology laboratory and RPL clinic.


METHODS
Seventeen men from RPL couples, 18 men from couples with a live birth and no history of miscarriages, and 10 men from couples with male factor infertility.


METHODS
Buccal smears for Y-chromosome microdeletion testing.


METHODS
The DNA was tested for microdeletions in the proximal AZFc region by polymerase chain reaction (PCR).


RESULTS
Fourteen of the 17 men (82%) tested had microdeletions in one or more of the four segments studied. Two of the 10 male factor infertility patients (20%) had microdeletions in 2 different segments. None of the 18 fertile men had any microdeletions in the 4 segments of the proximal AZFc region studied.


CONCLUSIONS
The prevalence of the Y-chromosome microdeletions in the proximal AZFc region was much higher in men from RPL couples than from fertile or infertile couples. Although these patients are from a tertiary referral center that may skew the population and findings, one may consider Y-chromosome microdeletion testing particularly of the AZFc region in the evaluation of RPL couples when all other tests fail to reveal the etiology.
Dewan
Sheri
S
Andrology Laboratory Services Inc., Chicago, Illinois, USA.
Puscheck
Elizabeth E
EE
Coulam
Carolyn B
CB
Wilcox
Alexander J
AJ
Jeyendran
Rajasingam S
RS
D000026:Abortion, Habitual / Q000235:genetics*; D000328:Adult; D016022:Case-Control Studies; D041322:Chromosomes, Human, Y; D017353:Gene Deletion; D005787:Gene Frequency; D006801:Humans; D007248:Infertility, Male / Q000235:genetics; D008297:Male; D016133:Polymerase Chain Reaction; D012729:Sex Chromosome Aberrations