Table 5.
Phenotypic characterization of women with KAL1 variants
| Subject | Reproductive phenotype | Nonreproductive phenotype | Olfaction |
|---|---|---|---|
| 4 | Tanner II breasts, normal pubarche, 1° amenorrhea, pulses of normal frequency and amplitude on baseline | Normal head CT | KS |
| 8 | No thelarche, 1° amenorrhea | Dental abnormalities, short fourth metacarpals | nIHH |
| 11 | Spontaneous thelarche, 1° amenorrhea | Retinitis pigmentosa | nIHH (not formally tested) |
| 14 | 1° amenorrhea | KS | |
| 15 | Spontaneous thelarche, 1° amenorrhea | CHARGE association: bilateral coloboma, ASD, developmental delay, hearing loss, ataxia, cleft lip (negative for 22q deletion) | KS |
| 17 | Tanner III breasts, 1° amenorrhea, apulsatile baseline | clinodactyly, flat nasal bridge, cannot fully extend elbows, normal sella turcica film | KS |
| 18 | 1° amenorrhea | nIHH (not formally tested) | |
| 19 | 1° amenorrhea | nIHH (not formally tested) | |
| 20 | 1° amenorrhea | KS | |
| 21 | KS |