|SDS: standard deviation score; Dx: diagnosis; Tx: therapy; LH: luteinizing hormone; FSH: follicle stimulating hormone; Δ4A: androstenedione; T: testosterone; DHT: dihydrotestosterone;|
E1: estrone; E2: estradiol; GnRH: gonadotropin-releasing hormone; hCG: human chorionic gonadotropin; N.E.: not examined; B: basal; and S: stimulated.
Abnormal clinical findings are boldfaced.
Abnormally low hormone values are boldfaced, and abnormally high hormone values are underlined.
aEvaluated by age- and ethnicity-matched growth references; heights ≥+2.0 SD or below ≤−2.0 SD were regarded as abnormal.
bAssessed by the Tanner-Whitehouse 2 method standardized for Japanese or by the Greulich-Pyle method for Caucasians; bone age was assessed as advanced when it was accelerated a year or more.
cEvaluated by age-matched male reference data, except for inhibin B and E1 that have been compared with data from 19 adult males.
dTreated with aromatase inhibitors (anastrozole).
eGnRH 100 μg/m2 (max. 100 μg) bolus i.v.; blood sampling at 0, 30, 60, 90, and 120 minutes.
fGnRH test after priming with GnRH 100 μg i.m. for 5 consecutive days.
ghCG 3000 IU/m2 (max 5000 IU) i.m. for 3 consecutive days; blood sampling on days 1 and 4.
hAlthough 3 has not yet fathered a child, he has normal spermatogenesis with semen volume of 2.5 ml (reference value: >2 ml), sperm count of 105 × 106/ml (>20 × 106/ml), total sperm count of 262.5 × 106 (>40 × 106), motile cells of 70% (>50%), and normal morphological sperms 77% (>30%).
iThese four patients allegedly had gynecomastia that required mastectomy (age unknown).
jThe sister has macromastia, large uterus, and irregular menses; the parental phenotype has not been described.
The conversion factor to the SI unit: LH 1.0 (IU/L), FSH 1.0 (IU/L), E1 3.699 (pmol/L), E2 3.671 (pmol/L), Δ4A 3.492 (nmol/L), and T 3.467 (nmol/L).