Prevalence of Y chromosome microdeletions in oligospermic and azoospermic candidates for intracytoplasmic sperm injection.

Abstract:

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. DESIGN:Controlled clinical study. SETTING:Genetics laboratory and infertility clinic at a University hospital. PATIENT(S):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. INTERVENTION(S):Collection of semen and blood samples. MAIN OUTCOME MEASURE(S):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). RESULT(S):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. CONCLUSION(S):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.

journal_name

Fertil Steril

journal_title

Fertility and sterility

authors

Oliva R,Margarit E,Ballescá JL,Carrió A,Sánchez A,Milà M,Jiménez L,Alvarez-Vijande JR,Ballesta F

doi

10.1016/s0015-0282(98)00195-2

subject

Has Abstract

pub_date

1998-09-01 00:00:00

pages

506-10

issue

3

eissn

0015-0282

issn

1556-5653

pii

S0015028298001952

journal_volume

70

pub_type

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