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Table 1 Clinical parameters of the man with complete SCOS included in this study

From: A homozygous PIWIL2 frameshift variant affects the formation and maintenance of human-induced pluripotent stem cell-derived spermatogonial stem cells and causes Sertoli cell-only syndrome

Parameters

Reference values

Detection values

Age (years)

 

42

Testis volume: left (mL)

≥ 12

5

Testis volume: right (mL)

≥ 12

5

Testis biopsy

 

SCOS

Karyotype

 

46, XY

Microdeletions of Y chromosome

 

Not detected

Hormone analysis

  

Total testosterone (nM/L)

10.41–19.78

11.93

Free testosterone (nM/L)

0.11–0.66

0.27

FSH (IU/L)

1.27–19.26

37.72

LH (IU/L)

1.24–8.62

12.56

SHBG (nM/L)

13.2–89.5

25.7

Semen analysis

  

Semen volume (mL)

≥ 1.5

5.4

Total sperm count (106/ejaculate)

≥ 39

0

Seminal neutral alpha-glucosidase (IU/L)

35.1–87.7

74.55

Seminal fructose (g/L)

2.95–3.35

42.24

Seminal elastase (ng/mL)

< 290

1920.5

Seminal DDX4 mRNA

 

Not detected