Table 1.
Clinical and hormonal data from the four patients with variants in DHX37.
| Clinical and Laboratorial Data |
Patient 1 | Patient 2 | Patient 3 | Patient 4 |
|---|---|---|---|---|
| Sex of rearing | Male | Female | Male | Male |
| Karyotype | 46,XY | 46,XY | 46,XY | 46,XY |
| Age at 1st evaluation | 1 month | 17 years | 0.5 month | 12 years |
| Diagnosis | PGD | PGD | PGD | PGD |
| Prader | 5 | 2 | 4 | 4 |
| EMS | 8 | 0 | 6 | 8 |
| EGS | 8.5 | 1 | 9 | 10 |
| Uterus | - | - | - | - |
| Gonadal position | Inguinal/Inguinal | Abdominal/Abdominal | Labioscrotal/Labioscrotal | Labioscrotal/Labioscrotal |
| Gonadal histology | DT/DT | DT/streak | DT/DT | DT/DT |
| LH (IU/L) | 2.7 | 13.9 | 7.5 | 2.8 |
| LH Reference range | 0.6–3.5 | 0.6–8.5 | 0.6–3.5 | 0.6–8.5 |
| FSH (IU/L) | 12.4 | 72.1 | 11.8 | 20.7 |
| FSH Reference range | 0.5–4.5 | 0.5–9.5 | 0.5–4.5 | 0.5–9.5 |
| T (ng/dL) | 154 | 70 | 108 | 20 |
| T Reference range | 100–300 | 100–750 | 100–300 | 100–750 |
DT: dysgenetic testes; EGS: external genitalia score; EMS: external masculinization score; FSH: follicle stimulating hormone; PGD: partial gonadal dysgenesis; T: total testosterone; (-): absent.