Table 2.
Phenotypic and genotypic characteristics of the six GnRH-deficient women with LH pulse patterns indistinguishable from normal early follicular phase women [previously shown to have a mean LH pulse amplitude of 2.3 IU/liter (95% CI 0.3–4.3), mean pulse frequency of 7 pulses/12 h (95% CI 3.4–10.6), and mean ovarian volume of 9.5 cc (95% CI 3.9–15.9)] (19, 20, 49)
| Subject | KS/nIHH | Thelarche/menarche | LH (IU/liter) | FSH (IU/liter) | Mean LH pulse amplitude (IU/liter) | LH pulse frequency (pulses/12 h) | Ovarian vol (cc) | Nonreproductive phenotype | Rare sequence variant | Follow-up (yrs) |
|---|---|---|---|---|---|---|---|---|---|---|
| 1 | KS | +/+ | 0.6 | 5.2 | 0.6 | 5 | N.A. | N.A. | 16 | |
| 2 | KS | −/− | 3.8 | 5.3 | 0.5 | 9 | 8.8 | Agenesis of the CC, short 4th MC, high-arched palate | NEG | 6 |
| 3 | nIHH | +/− | 3.5 | 4.7 | 1.5 | 10 | 8.8 | PROKR2 het (R85Ca) | 4 | |
| 4 | KS | +/− | 2.6 | 4.3 | 0.4 | 5 | 1.4 | Hypoplastic olfactory bulbs and sulci, hearing loss | KAL1 het (K185N) | 20, pregnant with GnRH pump |
| 5 | nIHH | +/+ | 1.0 | 3.2 | 1.1 | 4 | 8 | 3 frontal incisors | TACR3 het (A449T) | 2 |
| 6 | nIHH | +/− | 0.6 | 2.8 | 2.7 | 5 | 4 | Gap between teeth, otosclerosis | NEG | 2, pregnant with gonadotropins |
CC, corpus callosum; MC, metacarpals; het, heterozygous; N.A., not assessed. Subject numbers are consistent across tables.
a
Loss of function variant.