Lab Med Online.  2018 Oct;8(4):148-155. 10.3343/lmo.2018.8.4.148.

Genetic Screening for Chromosomal Abnormalities and Y Chromosome Microdeletions in 846 Infertile Korean Men

• Han SH
• Bak CW
• Cho H
• Ban GW
• Kang JS
• Lim HS
• Lee KR
• Hwang SY

• KMID: 2421005
• DOI: http://doi.org/10.3343/lmo.2018.8.4.148

Abstract

BACKGROUND
Chromosomal abnormalities are confirmed as one of the frequent causes of male infertility. The microdeletion of the azoospermia factor (AZF) region in the Y chromosome was discovered as another frequent genetic cause associated with male infertility. The aim of this study was to evaluate the frequency and type of chromosomal abnormalities and Y chromosome microdeletions in Korean infertile men.
METHODS
A total of 846 infertile men with azoospermia and severe oligozoospermia were included for genetic screening. Cytogenetic analyses using G-banding and screening for Y chromosome microdeletions by multiplex PCR for AZF genes were performed.
RESULTS
Chromosomal abnormalities were detected in 112 infertile men (13.2%). Of these, Klinefelter's syndrome was the most common (55.4%, 62/112), followed by balanced translocation including translocation between sex chromosome and autosome (14.3%), Yq deletion (13.4%), X/XY mosaicism with Yq deletion (12.5%), and XX male (4.5%). The overall prevalence of Y chromosome microdeletions was 9.2% (78/846). Most microdeletions were in the AZFc region (51.3%) with a low incidence in AZFa (7.7 %) and AZFb (6.4 %). Combined deletions involving the AZFbc and AZFabc regions were detected in 26.9 % and 7.7 % of men, respectively. Among the infertile men with Y chromosome microdeletions, the incidence of chromosomal abnormality was 25.6% (20/78).
CONCLUSIONS
There was a high incidence (20.1%) of chromosomal abnormalities and Y chromosome microdeletions in Korean infertile men. These findings strongly suggest that genetic screening for chromosomal abnormalities and Y chromosome microdeletions should be performed, and genetic counseling should be provided before starting assisted reproductive techniques.

Keyword

Male infertility; Chromosomal abnormalities; Y chromosome microdeletions; Azoospermia factor (AZF)

MeSH Terms

Azoospermia
Chromosome Aberrations*
Cytogenetic Analysis
Genetic Counseling
Genetic Testing*
Humans
Incidence
Infertility, Male
Klinefelter Syndrome
Male
Mass Screening
Mosaicism
Multiplex Polymerase Chain Reaction
Oligospermia
Prevalence
Reproductive Techniques, Assisted
Sex Chromosomes
Y Chromosome*

Figure

• 

  Fig. 1. Schematic depiction of the Y chromosome microdeletions. Microdeletions of non-EAA/EMQN guideline markers (sY152 and sY157) were detected in patient No. 15, 23, and 32. (Microdeletion in block, EAA/EMQN guideline markers; sY86, sY84, sY124, sY127, sY254, sY255).

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