Table 1. Clinical and hormonal characteristics of family members.
| Subject (see Fig. 1) (GNRHR1 genotype) | I-1 (Tyr323Cys/WT) | I-2 (Pro282Arg/WT) | II-1 (Tyr323Cys/Pro282Arg) | II-2 (WT/WT) | II-3 (Tyr323Cys/Pro282Arg) | II-4 (Tyr323Cys/Pro282Arg) |
| Sex/age at initial evaluation (years) | M/47 | F/44 | M/21 | F/34 | M/20 | M/18 |
| Spontaneous puberty | yes | yes | no | yes | no | no |
| Clinical examinationa | Eugonadic; Penis: 14 cm length; TV:19 mL | Eugonadic; Spontaneousregular menses;4 Spontaneous pregnancies | Hypogonadic; Penis:4 cm length; TV:2 mL, Intrascrotal | Eugonadic; Spontaneousregular menses;4 Spontaneous pregnancies | Hypogonadic; Penis:6 cm length; TV:3 mL, Intrascrotal | Hypogonadic; Penis:3 cm length; TV:2 mL, Intrascrotal |
| Sense of smell (olfactometry) | – | – | normal | – | normal | normal |
| Ta,b (ng/mL)/E2 (pg/mL) | 5.7/− | −/47 | 0.2/− | −/62 | 0.4/− | 0.15/− |
| LHa,b (IU ; basal/stimulatedc) | 3.8 | 3.8 | 0.3/0.6 | 5.7/− | 0.7/− | 0.5/0.8 |
| FSHa,b (IU ; basal/stimulatedc) | 4.3 | 3.9 | 0.9/0.8 | 4.4/− | 0.9/− | 0.8/1.1 |
| Inhibin B | 186 | – | 33 | – | 26 | 39 |
| Other pituitary functionsd | – | – | normal | – | normal | normal |
| Pituitary and olfactory bulbs MRI | – | – | normal | – | normal | normal |
WT: wild type GNRHR1; TV: mean testicular volume (normal range in post pubertal men: 12–30 mL). MRI: magnetic resonance imaging.
a
At diagnosis before therapy in affected patients.
b
Normal range in adults, basal LH: 2.8–7.1 IU/L; basal FSH: 2.4–7.0 IU/L, in post menopausal women: LH: 14–132 IU/L, FSH: 28–171; T in men: 2.8–9.0 ng/mL, Inhibin B in men: 98–366); E2 in women: 24–90 pg/mL (early follicular phase).
c
GnRH: 100 µg intravenous.
d
Normal cortisol and GH under hypoglycemia challenge test. Normal free T4 and TSH, normal prolactin.
- : Not done.