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Table 1 Genetic abnormalities observed in cases of obstructive or non-obstructive azoospermia

From: Genetic defects in human azoospermia

Genetic abnormality Type of azoospermia Sterility phenotype Reference
Chromosome abnormalities
Klinefelter syndrome Non-obstructive azoospermia Variable [31]
47,XYY Variable [38, 39]
46,XX SCOS [46, 47]
Chromosome rearrangements Variable [21]
Y chromosome microdeletions
 AZFa Non-obstructive azoospermia SCOS [59]
 AZFb Meiotic arrest [59]
 AZFc Variable [59]
Gene mutations
CFTR Obstructive azoospermia CBAVD [70, 73]
ADGRG2 CBAVD [75]
PANK2 CBAVD [87]
SLC9A3 CBAVD [86]
TEX11 Non-obstructive azoospermia Meiotic arrest [90, 92]
DMC1 Meiotic arrest [93]
DNAH6 Meiotic arrest [94]
MAGEB4 SCOS [97]
MCM8 Unknown [99]
MEIOB Meiotic arrest [94]
MEI1 Meiotic arrest [105]
NPAS2 Unknown [108]
PSMC3IP Unknown [110]
SPINK2 Post-meiotic arrest [111]
STX2 Meiotic arrest [112]
SYCE1 Meiotic arrest [114]
TAF4B Unknown [116]
TDRD7 Post-meiotic arrest [119]
TDRD9 Meiotic arrest [122]
TEX14 Meiotic arrest [94]
TEX15 Meiotic arrest [127]
XRCC2 Meiotic arrest [132]
ZMYND15 Meiotic arrest [116]
  1. CBAVD congenital bilateral absence of the vas deferens, SCOS Sertoli-cell-only syndrome