Genetic diagnosis | N | Testicular volume (mL) | FSH (IE/L) | ||
---|---|---|---|---|---|
Mean ± SD | p-value | Mean ±SD | p-value | ||
46,XX | 3 | 4.7 ± 3.1 (n=3) | p<0.01 | 25.7 ± 15.5 (n=3) | p<0.0001 |
45,X | 2 | 11.3 ± 0.3 (n=2) | NS | 14.5 ± 4.4 (n=2) | p<0.0001 |
45,X/46,XY mosaicism | 9 | 9.8 ± 3.6 (n=8) | p<0.001 | 14.1 ± 9.5 (n=9) | P<0.001 |
46,XY; AZFc missing (-sperm in testis) | 17 | 14.6 ± 8.2 (n=17) | P<0.001 | 12.7 ± 6.6 (n=16) | P<0.00001 |
46,XY; AZFc missing (total) | 26 | 14.5 ± 7.6 (n=25) | P<0.0001 | 12.1 ± 5.8 (n=24) | P<0.00001 |
46,XY; AZFc missing (+sperm in testis) | 7 | 14.6 ± 6.9 (n=7) | P<0.01 | 9.7 ± 3.6 (n=6) | P<0.001 |
46,XY; AZFb missing | 3 | 18.2 ± 4.1 (n=3) | NS | 5.9 ± 1.2 (n=3) | NS |
aCFTR mut. + CBAVD (control) | 21 | 33.3 ± 17.0 (n=21) | - | 4.4 ± 2.3 (n=21) | - |