Clinical and hormonal characteristics of family members.

WT: wild type GNRHR1; TV: mean testicular volume (normal range in post pubertal men: 12–30 mL). MRI: magnetic resonance imaging.aAt diagnosis before therapy in affected patients.bNormal 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).cGnRH: 100 µg intravenous.dNormal cortisol and GH under hypoglycemia challenge test. Normal free T4 and TSH, normal prolactin.- : Not done.