Korean J Fertil Steril.  2002 Dec;29(4):303-310.

Relationship between Microdeletions on the Y Chromosome and Defect of Spermatogenesis

• Lee HS
• Choi HW
• Park YS
• Koong MK
• Kang IS
• Yun JM
• Lee YS
• Seo JT
• Jun JH

Abstract

OBJECTIVES
To estimate the frequency of Y chromosome microdeletions in the Korean population of infertile men and to evaluate the relationship between microdeletion on the Y chromosome and clinical phenotypes of infertile men with idiopathic azoospermia and oligozoospermia. MATERIALS AND
METHODS
Genomic DNA was extracted from blood samples collected from 330 infertile men attending the Infertility Clinic at Samsung Cheil Hospital, Korea. Six sequence tagged sites (STSs) spanning the azoospermia factor (AZF) regions of the Y chromosome were amplified by polymerase chain reactions (PCRs).
RESULTS
Microdeletions on Y chromosome were detected in 35 (10.6%) of the 330 infertile men. Most of the microdeletions (91.4%) involved AZFb or AZFc. The high incidence of microdeletions were found in AZFc region (57.1%), but the low in AZFa (8.6%) and AZFb (5.7%). Larger microdeletions involving two or three AZF regions were detected in 28.6% of cases. All patients (6 patients) with deletion of AZFa region showed no germ cell phenotypes, Sertoli cell only syndrome or Leydig cell hyperplasia in histopathologic examinations.
CONCLUSION
Microdeletions on the Y chromosome, especially, at AZFc/DAZ regions may be the major cause of azoospermia and severe oligozoospermia. We suggest that idiopathic infertile men have genetic counselling and microdeletion analysis on the Y chromosome before IVF-ET and ART program.

Keyword

Y chromosome; Microdeletion; Azoospermia factor (AZF); Genetic counselling

MeSH Terms

Azoospermia
DNA
Germ Cells
Humans
Hyperplasia
Incidence
Infertility
Korea
Male
Oligospermia
Phenotype
Polymerase Chain Reaction
Sequence Tagged Sites
Sertoli Cell-Only Syndrome
Spermatogenesis*
Y Chromosome*
DNA