Table 1.
Genetic abnormalities observed in human Sertoli cell-only syndrome
| Genetic abnormality | References |
|---|---|
| Chromosome abnormalities | |
| Klinefelter syndrome (47, XXY) | [34] |
| 45, X/46, XY mosaicism | [36] |
| 46, XX male | [37] |
|
Chromosome rearrangements Isochromosome Yp |
[38] |
| Paracentric inversion of chromosome 7 (q22-31) and 12 (p12q12) | [39, 40] |
| Duplication in chromosome 19p13.3 | [41] |
| Y chromosome microdeletions | |
| AZFa | [42] |
| AZFb | [43] |
| AZFc | [44] |
| Gene mutations | |
| USP9Y | [45] |
| USP26 | [46] |
| DBY | [45] |
| HOXD9 | [7] |
| SYCE1 | [7] |
| COL1A1 | [7] |
| H19 | [7] |
| KCNQ1 | [7] |
| PLK-4 | [47] |
| CX43 | [48] |
| FANCM | [49] |
| ETV5 | [50] |
| H-MSI | [51] |
| MMR | [51] |
| CAG repeat in AR gene | [52] |
| SNPs | |
| ETV5 (+48845 G>T) | [53] |
| FGF9 (c.-712 C/T) | [54] |
| LRWD1 (3 coding SNPs) | [55] |
| SEPTIN 12 (8 coding SNPs) | [56] |
| RAD21L (coding SNP) | [57] |