Table 2.
Pathogenic and Likely Pathogenic Variants in Genes Associated With Idiopathic Hypogonadotropic Hypogonadism
| ID | Sex | Pubertal progression? | Variant identified |
|---|---|---|---|
| 1 | M | N | ND |
| 2 | M | N | No qualifying variants found |
| 3 | F | N | FGFR1 p.R609X |
| 4 | M | N | ANOS1 a p.T193Kfs*24 |
| A | M | N | No qualifying variants found |
| 6 | F | N | No qualifying variants found |
| 7 | M | N | ND |
| 8 | M | N | No qualifying variants found |
| 9 | M | Y | ND |
| 10 | M | Y | No qualifying variants found |
| B | F | Y | ND |
| 11 | M | Y | No qualifying variants found |
| 12 | M | Y | FGFR1 p.I676Dfs*7 |
| 13 | F | Y | No qualifying variants found |
| 14 | M | Y | ND |
| 15 | M | Y | TACR3 p.W208X |
Abbreviations: F, female; ID, identification; M, male; N, no; ND, not done; Y, yes.
aFormerly named KAL1.