| . | Item1 . | F1: II-5 . | F2: II-1 . | F3: II-1 . | Normal value range . |
|---|---|---|---|---|---|
| Age2 | – | 29 | 35 | 40 | – |
| Endocrine detection | T | 4.8 | 5.7 | 2.85 | 2.5–8.4 ng/ml |
| FSH | 6.5 | 8.6 | 4.76 | 1.5–12.4 mIU/ml | |
| LH | 5.0 | 4.0 | 3.57 | 1.7–8.6 mIU/ml | |
| E2 | 38.0 | 42.0 | 27.06 | 7.6–42.6 pg/ml | |
| Testicular volume | Left | 11 | 12 | 12 | 10–15 ml |
| Right | 11 | 12 | 12 | ||
| Semen analysis3 | Sperm concentration | 6.7 | 0.5 | 1.28 | >15 × 106 (/ml) |
| Semen volume | 4.5 | 2.3 | 2.6 | >1.5 ml | |
| Progressive motility (%) | 0 | 0 | 11.1 | >32 (%) | |
| Karyotype | – | 46,XY | 46,XY | 46,XY | – |
| Y-Chromosome microdeletion | – | No deletion | No deletion | No deletion | – |
| . | Item1 . | F1: II-5 . | F2: II-1 . | F3: II-1 . | Normal value range . |
|---|---|---|---|---|---|
| Age2 | – | 29 | 35 | 40 | – |
| Endocrine detection | T | 4.8 | 5.7 | 2.85 | 2.5–8.4 ng/ml |
| FSH | 6.5 | 8.6 | 4.76 | 1.5–12.4 mIU/ml | |
| LH | 5.0 | 4.0 | 3.57 | 1.7–8.6 mIU/ml | |
| E2 | 38.0 | 42.0 | 27.06 | 7.6–42.6 pg/ml | |
| Testicular volume | Left | 11 | 12 | 12 | 10–15 ml |
| Right | 11 | 12 | 12 | ||
| Semen analysis3 | Sperm concentration | 6.7 | 0.5 | 1.28 | >15 × 106 (/ml) |
| Semen volume | 4.5 | 2.3 | 2.6 | >1.5 ml | |
| Progressive motility (%) | 0 | 0 | 11.1 | >32 (%) | |
| Karyotype | – | 46,XY | 46,XY | 46,XY | – |
| Y-Chromosome microdeletion | – | No deletion | No deletion | No deletion | – |
T, testosterone; FSH, follicle-stimulating hormone; LH, luteinizing hormone; E2, estradiol.
Infertility-related examinations were performed when the affected individuals (F1: II-5, F2: II-1, and F3: II-1) were 29, 35, and 40 years of age, respectively.
Semen parameters were evaluated according to the WHO Laboratory Manual for the Examination and Processing of Human Semen (First Edition, 2010) (Sanchez-Alvarez et al., 2012).
| . | Item1 . | F1: II-5 . | F2: II-1 . | F3: II-1 . | Normal value range . |
|---|---|---|---|---|---|
| Age2 | – | 29 | 35 | 40 | – |
| Endocrine detection | T | 4.8 | 5.7 | 2.85 | 2.5–8.4 ng/ml |
| FSH | 6.5 | 8.6 | 4.76 | 1.5–12.4 mIU/ml | |
| LH | 5.0 | 4.0 | 3.57 | 1.7–8.6 mIU/ml | |
| E2 | 38.0 | 42.0 | 27.06 | 7.6–42.6 pg/ml | |
| Testicular volume | Left | 11 | 12 | 12 | 10–15 ml |
| Right | 11 | 12 | 12 | ||
| Semen analysis3 | Sperm concentration | 6.7 | 0.5 | 1.28 | >15 × 106 (/ml) |
| Semen volume | 4.5 | 2.3 | 2.6 | >1.5 ml | |
| Progressive motility (%) | 0 | 0 | 11.1 | >32 (%) | |
| Karyotype | – | 46,XY | 46,XY | 46,XY | – |
| Y-Chromosome microdeletion | – | No deletion | No deletion | No deletion | – |
| . | Item1 . | F1: II-5 . | F2: II-1 . | F3: II-1 . | Normal value range . |
|---|---|---|---|---|---|
| Age2 | – | 29 | 35 | 40 | – |
| Endocrine detection | T | 4.8 | 5.7 | 2.85 | 2.5–8.4 ng/ml |
| FSH | 6.5 | 8.6 | 4.76 | 1.5–12.4 mIU/ml | |
| LH | 5.0 | 4.0 | 3.57 | 1.7–8.6 mIU/ml | |
| E2 | 38.0 | 42.0 | 27.06 | 7.6–42.6 pg/ml | |
| Testicular volume | Left | 11 | 12 | 12 | 10–15 ml |
| Right | 11 | 12 | 12 | ||
| Semen analysis3 | Sperm concentration | 6.7 | 0.5 | 1.28 | >15 × 106 (/ml) |
| Semen volume | 4.5 | 2.3 | 2.6 | >1.5 ml | |
| Progressive motility (%) | 0 | 0 | 11.1 | >32 (%) | |
| Karyotype | – | 46,XY | 46,XY | 46,XY | – |
| Y-Chromosome microdeletion | – | No deletion | No deletion | No deletion | – |
T, testosterone; FSH, follicle-stimulating hormone; LH, luteinizing hormone; E2, estradiol.
Infertility-related examinations were performed when the affected individuals (F1: II-5, F2: II-1, and F3: II-1) were 29, 35, and 40 years of age, respectively.
Semen parameters were evaluated according to the WHO Laboratory Manual for the Examination and Processing of Human Semen (First Edition, 2010) (Sanchez-Alvarez et al., 2012).
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