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Table 1 Clinical characteristics of the patients with bi-allelic variants of MSH4 at the clinical assessment

From: Novel bi-allelic MSH4 variants causes meiotic arrest and non-obstructive azoospermia

Subject P9359 P9517-1 P9517-2 P9540 P21504
Secondary sexual characteristics Normal Normal Normal Normal Normal
Testicular volume (Left/Right, ml) 12/12 12/12 / 12/12 15/15
Karyotype 46,XY 46,XY / 46,XY 46,XY
Y Chromosome microdeletions No No / No No
Follicle-stimulating hormone (IU/L) 4.4 9.66 / 10.83 4.7
Luteinizing hormone (IU/L) 5.54 5.52 / 5.44 3.4
Testosterone (nmol/L) 3.45 3.95 / 5.63 2.87