Table 1.
Clinical manifestations of 5 patients with 17-βHSD3 deficiency at initial diagnosis.
| Patient 1 | Patient 2 | Patient 3 | Patient 4 | Patient 5 | |
|---|---|---|---|---|---|
| First visit | 6 years | 11years | 10 years | 2 years | 2 years |
| Follow-up | – | 13 years | 14 years | 4 years | 4 years |
| Referral reason | Virilization | Virilization | Virilization | Virilization | Virilization |
| External genital phenotype at birth | Female external genitalia | Female external genitalia | Female external genitalia | Ambiguous genitalia, clitoromegaly |
Ambiguous genitalia, clitoromegaly |
| Rearing sex | F | F | F | F | F |
| Height (cm) | 112.5 | 150.0 | 155.5 | – | – |
| Weight (kg) | 24.0 | 56.5 | 53.5 | 10.5 | 10.0 |
| Karyotype | 46, XY | 46, XY | 46, XY | 46, XY | 46, XY |
| Phallic length (cm) | 0.1 | 1.8 | 4.0 | 2.5 | 2.3 |
| Testes’ locations | Left lower quadrant, right orchiectomy |
Inguinal region | Inguinal region | Scrotum | Scrotum |
| Testes size (cm) (left, right) |
-, 1.6×0.8×0.6 | 2.65×1.50×0.80, 2.2×1.30×0.70 |
3.0×1.9×1.1, 3.0×1.9×1.1 |
1.7×0.9×0.6, 1.9×1.0×0.8 |
1.6×0.9×0.6, 1.8×0.9×0.7 |
| Vaginal and urethral openings | Separate | Separate | Separate | Single | Single |
| Masculinization score | 0.5 | 3 | 5 | 6 | 6 |
| HSD17B3 mutation | c.683C>T, Exon1 deletion |
c.593A>T, Exon1 deletion |
c.242C>T, c.571C>T |
c.491T>C, c.716T>G, |
c.491T>C, c.716T>G, |
| E2 pmol/ml | <73.4 (<73.4) | 179 (<146.8) | <73.4 (<146.8) | <73.4 (<73.4) | <73.4 (<73.4) |
| DHEA (umol/l) | <0.41 (<1.02) | 2.59 (<4.15) | 1.380 (<4.15) | <0.41 (<0.41) | <0.41 (<0.41) |
| AND (nmol/l) | <1.05 (<3.92) | 4.17 (<4.9) | 2.55 (<4.9) | <1.05 (<1.05) | <1.05 (<1.05) |
| T (nmol/l) | <0.69 (<0.69) | <0.69 (<0.72) | 0.87 (<1.87) | <0.09 (<0.69) | <0.69 (<0.69) |
| LH (mIU/mL) | <0.10 (0.12-0.2) | 10.3 (0.2-3.4) | 5.11 (0.2-3.4) | <0.10 (0.12-0.2) | 0.2 (0.12-0.2) |
| FSH (mIU/mL) | 4.71 (1.1-4.3) | 12 (0.51-5.00) | 19.70 (0.51-5) | 0.36 (1.1-4.3) | 1.73 (1.1-4.3) |
| T/AND | <0.17 | 0.34 | |||
| DHT (pg/ml) | 17.84 / <50 (40.5-355 / ≤50) | 19.12 / <50 (40.5-355 / ≤50) | |||
| LH basal level (mIU/mL) | <0.10 | 10.00 | 5.10 | 1.22 | 1.2 |
| FSH basal level (mIU/L) | 4.70 | 12.00 | 19.70 | 3.13 | 4.28 |
| LH after GnRH (30min) (mIU/L) | 3.37 | 49.20 | 56.00 | 19.6 | 23.1 |
| FSH after GnRH (30min) (mIU/mL) | 25.70 | 16.20 | 30.50 | 7.72 | 11.8 |
| LH after GnRH (60min) (mIU/mL) | 2.45 | 43.50 | 43.80 | 13 | 14.3 |
| FSH after GnRH (60min) (mIU/mL) | 26.90 | 16.50 | 32.70 | 9.83 | 12.9 |
| T basal level (nmol/l) | 0.87 | <0.69 | <0.69 | ||
| T after HCG (nmol/l) | 13.2 | 11.2 | 5.51 | ||
| AND basal level (nmol/l) | 2.55 | <1.05 | <1.05 | ||
| AND after HCG (nmol/l) | 6.9 | 2.89 | |||
| T/AND basal level | 0.34 | ||||
| T/AND after HCG | 1.62 | 1.94 |