Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection.
OBJECTIVE
To determine the prevalence and type of Y chromosome microdeletions in 136 consecutively seen intracytoplasmic sperm injection (ICSI) candidates and in 50 consecutively seen azoospermic men attending an infertility clinic.


METHODS
Controlled clinical study.


METHODS
Genetics laboratory and infertility clinic at a University hospital.


METHODS
One hundred eighty-six men who were seen at an infertility clinic and who were referred to a genetics counseling service for genetic assessment before ICSI.


METHODS
Collection of semen and blood samples.


METHODS
Semen analysis; serum FSH, LH, and T levels; karyotype analysis; and presence or absence of several single tagged site markers along the Y chromosome (sY274, sY238, sY276, sY84, sY102, sY143, sY153, sY254, sY269, sY202, sY158, sY160).


RESULTS
Yq chromosome microdeletions were detected in 10 (5.4%) of 186 consecutively seen ICSI candidates. The number of microdeletions was much higher in azoospermic patients (16%; 8 of 50) than in oligospermic patients (1.5%; 2 of 136). Two of the azoospermic patients with a Yq microdeletion also had sex chromosome aneuploidy mosaicism. No microdeletions were detected in 100 consecutively seen fathers who were included as controls.


CONCLUSIONS
The prevalence of Yq microdeletions in the azoospermic group was much higher than in the oligospermic group and was consistent with the prevalence of Yq microdeletions detected in other series of azoospermic men in different geographic areas. All Yq microdeletions found in our patients belong to the AZFc region, indicating that microdeletions of the AZFa and AZFb regions are infrequent among oligospermic ICSI candidates or azoospermic males in our population.
Genetics Service, Hospital Clinic I Provincial of Barcelona, Faculty of Medicine, University of Barcelona, Spain. oliva@medicina.ub.es
R
R
Oliva
E
E
Margarit
J L
JL
Ballescá
A
A
Carrió
A
A
Sánchez
M
M
Milà
L
L
Jiménez
J R
JR
Alvarez-Vijande
F
F
Ballesta
D000328:Adult; D002872:Chromosome Deletion; D003593:Cytoplasm; D005260:Female; D005307:Fertilization in Vitro / Q000379:methods*; D006801:Humans; D008297:Male; D008845:Microinjections; D009845:Oligospermia / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013030:Spain; D014998:Y Chromosome