Table 1.
Prevalence of Reproductive Phenotypes Across Genetic Groups
| Reproductive Phenotypes | KAL1 | FGF8/FGFR1 | PROK2/PROKR2 | CHD7 | HS6ST1 | Gene-Negative Group |
|---|---|---|---|---|---|---|
| Testicular volume, mL, mean ± SEM, n | 1.5 ± 0.1 (18) |
3.6 ± 0.6 (26) |
3.0 ± 0.6 (17) |
1.7 ± 0.2 (9) |
6.8 ± 2.8 (3) |
4.3 ± 0.6 (38) |
| Cryptorchidism | 56% (15/27) |
51% (17/33) |
27% (6/22) |
82% (9/11) |
0 (0/4) |
41% (17/41) |
| Micropenis | 25% (7/28) |
32% (10/31) |
37% (6/16) |
36% (4/11) |
25% (1/4) |
25% (9/36) |
| Puberty, males | ||||||
| Absent | 96% (25/26) |
69% (20/29) |
77% (17/22) |
100% (11/11) |
33% (1/3) |
52% (23/44) |
| Partial | 4% (1/26) |
31% (9/29) |
23% (5/22) |
0% (0/11) |
67% (2/3) |
48% (21/44) |
| Puberty, females | ||||||
| Absent | 0% 0% |
50% (6/12) |
75% (4/5) |
78% (7/9) |
ND ND |
62% (10/16) |
| Partial | 100% (2/2) |
50% (6/12) |
25% (1/5) |
22% (2/9) |
ND ND |
38% (6/16) |
| Positive outcome to GnRH therapy, males | 50% (3/6) |
100% (5/5) |
100% (5/5) |
100% (1/1) |
ND ND |
78% (14/18) |
| Positive outcome to GnRH therapy, females | 100% (1/1) |
100% (2/2) |
ND ND |
100% (2/2) |
ND ND |
78% (7/9) |
| Male reversal | 0% (0/8) |
20% (2/10) |
0% (0/7) |
0% (0/3) |
50% (1/2) |
16% (6/38) |
Abbreviation: ND, no data available. For qualitative phenotypes, numerator in parentheses characterizes the number of probands that are positive to phenotypic feature. Denominator represents the total number of probands with available information.