Infertility-related examinations of affected individuals in the family
| Item | IV-1 | IV-2 | Normal value range | |
| Age* | – | 30 | 26 | – |
| Basal sexual hormone | T | 0.409 | 26.87 | Male: 4.94–32.01 ng/mL Female: 0.38–1.97 ng/mL |
| FSH | 51.84 | 1.47 | Male: 0.95–11.95 mIU/mL Female: 3.03–8.08 mIU/mL | |
| LH | 29.08 | 2.98 | Male: 0.57–12.07 mIU/mL Female: 1.80–11.78 mIU/mL | |
| PRL | 20.89 | 8.02 | Male: 3.46–19.4 ng/mL Female: 5.18–26.53 ng/mL | |
| E2 | 7.18 | 42 | Male: 11–44 pg/mL Female: 21–251 pg/mL | |
| Testicular volume of the IV-2 | Left | – | 10.6 | 10–15 mL |
| Right | – | 11.9 | 10–15 mL | |
| Semen routine examination of the IV-2 | A-level | – | 0 | A-level >25 (%) |
| B-level | – | 0 | A+B level >30 (%) | |
| C-level | – | 0 | ||
| D -level | – | 0 | ||
| Semen volume | – | 3.2 | ≥2 (mL) | |
| Sperm density | – | 0 | >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.