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 |