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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.
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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).
Table 1.
Sets of sequence-tagged sites of Y chromosome microdeletion kit
Table 2.
Abnormal karyotypes in infertile men with non-obstructiv azoospermia or severe oligozoospermia
| Karyotypes | Nonobstructive azoospermia (N=609) | Severe oligozoospermia (N=237) | Total (N=846) | Total % (Abnormal %) |
|---|---|---|---|---|
| Normal (46,XY) | 506 | 228 | 734 | 86.8 |
| Abnormal | 103 | 9 | 112 | 13.2 |
| 47,XXY | 59 | 1 | 60 | 7.1 (53.6) |
| 47,XXY/XY | 2 | 0 | 2∗ | 0.2 (1.8) |
| 46,X,del(Y)(q11.23) | 14 | 1 | 15 | 1.8 (13.4) |
| 46,X,del(Y)(q11.23)/45,X | 10 | 1 | 11† | 1.3 (9.8) |
| 46,X,psu idic(Y)(p11.32)/45,X | 3 | 0 | 3‡ | 0.4 (2.7) |
| 46,XX male | 5 | 0 | 5 | 0.6 (4.5) |
| Abnormal sex chromosome | 93 | 3 | 96 | 11.3 (85.7) |
| 46,XY,t(1;13)(p13.3;q12.1) | 1 | 0 | 1 | 0.1 (0.9) |
| 46,XY,t(5;11)(q23.3;q22.3) | 0 | 1 | 1 | 0.1 (0.9) |
| 46,XY,t(6;15)(q25.1;q26.3) | 1 | 0 | 1 | 0.1 (0.9) |
| 46,XY,t(11;12)(q24.2;q13.1) | 0 | 1 | 1 | 0.1 (0.9) |
| 45,XY,der(13;14)(q10;q10) | 3 | 1 | 4 | 0.5 (3.6) |
| 45,XY,der(14;22)(q10;q10) | 2 | 2 | 4 | 0.5 (3.6) |
| 46,XY,t(15;20)(p10;p10) | 0 | 1 | 1 | 0.1 (0.9) |
| Autosomal translocation | 7 | 6 | 13 | 1.5 (11.6) |
| 46,XY,t(Y;14)(p11.2;q11.2) | 1 | 0 | 1 | 0.1 (0.9) |
| 46,XY,t(Y;22)(p11.32;q13.1) | 1 | 0 | 1 | 0.1 (0.9) |
| 46,Y,t(X;1)(p11.23;p36.1) | 1 | 0 | 1 | 0.1 (0.9) |
| X or Y;autosome translocation | 3 | 0 | 3 | 0.4 (2.7) |
Table 3.
Frequencies of different Y chromosome microdeletions
Table 4.
Karyotype results in infertile men with Y chromosome micro-deletions
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