Table 1

Infertility-related examinations of affected individuals in the family

ItemIV-1IV-2Normal value range
Basal sexual hormoneT0.40926.87Male: 4.94–32.01 ng/mL
Female: 0.38–1.97 ng/mL
FSH51.841.47Male: 0.95–11.95 mIU/mL
Female: 3.03–8.08 mIU/mL
LH29.082.98Male: 0.57–12.07 mIU/mL
Female: 1.80–11.78 mIU/mL
PRL20.898.02Male: 3.46–19.4 ng/mL
Female: 5.18–26.53 ng/mL
E27.1842Male: 11–44 pg/mL
Female: 21–251 pg/mL
volume of the IV-2
Left10.610–15 mL
Right11.910–15 mL
Semen routine
examination of the IV-2
A-level0A-level >25 (%)
B-level0A+B level >30 (%)
D -level0
Semen volume3.2≥2 (mL)
Sperm density0>20×106 (/mL)
  • A-level: sperm activity; B-level: forward motile sperm; C-level: non-forward motile sperm; D-level: immobile sperm.

  • *Infertility-related examinations were performed when the affected individuals (IV-1 and IV-2) were 29 and 25 years of age, respectively.

  • T, testosterone; FSH, follicle-stimulating hormone; LH, luteinising hormone; NA, not available; PRL, prolactin; E2, estradiol.