Table 1 Summary of the main clinical manifestations and hormonal data from the eight patients
Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 | 8 |
Gender | M → F | M | M | M | M | F | M | F |
Chromosome karyotype | 46, XX | 46, XY | 46, XY | 46, XY | 46, XY | 46, XX | 46, XY | 46, XX |
Age at first visit | 4.2 y | 2.2 y | 1 y | 6 m | 3.5 y | 17.8 y | 9.8 y | 12.5 y |
Height (cm) | 104.5 (−0.05 SDS) | 104 (3.97 SDS) | 76 (−0.19 SDS) | 70 (0.67 SDS) | 104.9 (1.10 SDS) | 168 (1.37 SDS) | 135.2 (0.69 SDS) | 143.4 (−1.81 SDS) |
Weight (kg) | 14.5 (−1.13 SDS) | 17 (3.05SDS) | 9 (−1 SDS) | 7.6 (−0.9 SDS) | 16.5 (0.53 SDS) | 58 (1.08 SDS) | 32 (−0.21 SDS) | 28 (−2.17 SDS) |
BA | 4 y | 2 y | 1 y | 6 m | 3 y | 14 y | 8 y | 10 y |
First reported facial features | ||||||||
Lower eyelid fat pads | + | + | + | + | - | - | - | - |
Lower eyelid-zygoma transverse line | + | + | + | + | - | - | - | - |
Underdeveloped or absent antihelix | + | + | + | - | - | + | + | - |
Single earlobe crease | + | + | + | - | - | + | + | - |
Skeletal abnormality | ||||||||
Limited extension of joints | + | - | + | - | - | + | + | - |
Brachydactyly or clinodactyly | + | + | - | - | + | + | + | + |
Scoliosis | - | - | + | - | - | - | - | + |
External genitalia | ||||||||
Micropenis | Male | + | + | + | + | Labial | + | Male |
Hypospadias | external | + | - | + | + | fusion | - | external |
Cryptorchidism | genitalia | - | + | - | - | + | genitalia | |
Maternal prenatal virilization | + | + | + | – | – | + | + | NA |
Hormone | ||||||||
ACTH (pg/ml) | 51.2 ↑ | 65.3 ↑ | 554 ↑ | 122 ↑ | 46.5 ↑ | 72.5 ↑ | 123 ↑ | 81.4 ↑ |
COR (ug/dl) | 16.60 ↔ | 11.7 ↔ | 6.83 ↔ | 13.8 ↔ | 8.03 ↔ | 7.95 ↔ | 8.05 ↔ | 11.1 ↔ |
17-OHP (ng/ml) | 12.87 ↑ | 11.92 ↑ | 8.14 ↑ | 6.96 ↑ | 5.57 ↑ | 4.22 ↑ | 7.67 ↑ | NA |
DHEA (ug/l) | < 0.10 ↓ | < 0.10 ↓ | 0.18 ↔ | 0.3 ↔ | < 0.10 ↓ | 1.11 ↓ | 0.74 ↔ | NA |
AD (ug/l) | < 0.10 ↓ | < 0.10 ↓ | 0.14 ↔ | < 0.10 ↓ | < 0.10 ↓ | 0.45 ↔ | < 0.10 ↓ | NA |
DHT (pg/ml) | 25.60 ↔ | 158.3 ↔ | 112.3 ↔ | 476.5 ↔ | < 20 ↓ | 47.8 ↔ | < 20 ↓ | NA |
CORT (ug/l) | 48.35 ↑ | 34.11 ↑ | 23.21↑ | 16.27↑ | 16.41↑ | 11.24 ↑ | 25.46 ↑ | NA |
P5 (ug/l) | 5.89 ↑ | 4.23 ↑ | 6.35 ↑ | 5.89 ↑ | 5.92 ↑ | 6.85 ↑ | 13.93 ↑ | NA |
PGN (ng/ml) | 6.19 ↑ | 9.96↑ | 23.80 ↑ | 16.90 ↑ | 3.34 ↑ | 5.54 ↑ | 12.50 ↑ | NA |
LH (IU/L) | 0.12↔ | 0.25 ↔ | 9.30 ↑ | 1.02 ↔ | < 0.10 ↔ | 25.40 ↑ | 0.81 ↔ | 9.70 ↑ |
FSH (IU/L) | 1.44 ↔ | 2.75 ↔ | 6.59 ↑ | 2.49 ↔ | 3.45 ↑ | 14.8 ↑ | 4.99 ↔ | 12.7 ↑ |
T (ng/dl) | < 20 ↔ | < 20 ↔ | < 20 ↔ | < 20 ↔ | < 20 ↔ | < 20 ↔ | < 20 ↔ | < 20 ↔ |
E2 (pg/ml) | 22.1 ↔ | < 20 ↔ | < 20 ↔ | < 20 ↔ | < 20 ↔ | 28 ↔ | < 20 ↔ | < 20 ↓ |
Stimulated E2 or Ta | 26.80 (E2) | 157 (T) | 99.5 (T) | 231 (T) | 93 (T) | NA | NA | NA |
AMH (ng/ml) | 0.96 | > 23 ↔ | > 23 ↔ | > 23 ↔ | > 23 ↔ | NA | NA | NA |
INHB (pg/ml) | 14.6 | 17.9 ↓ | 215 ↔ | 279.31 ↔ | 96 ↔ | NA | NA | NA |
Ultrasound | ||||||||
Adrenal gland | normal | normal | normal | normal | normal | normal | normal | hyperplasia |
Gonads | dysplastic ovaries infant uterus | testes | testes | testes | testes | ovarian cysts infant uterus | testes | dysplastic ovaries infant uterus |
Treatment H-C (mg/m2/day) | 16.46 | 6.63 | 12.05 | 27.32 | 29.52 | 12.42 | 18.35 | 18.52 |
POR gene variants | c.1370G > A, p.R457H (P) | c.1370G > A, p.R457H (P) | c.1370G > A, p.R457H (P) | c.1370G > T, p.R457L (P) | c.1370G > A, p.R457H (P) | c.1370G > A, p.R457H (P) | c.1370G > A, p.R457H (P) | c.1370G > A, p.R457H (P) |
c.744C > G, p.Y248Xb (P) | c.744C > G, p.Y248Xb (P) | c.1660C > T, p.R554Xb (P) | c.1820A > G, p.Y607C (LP) | c.629A > G, p.D210Gb (LP) | c.517-19_517-10delGGCCCCTGTGinsCb (P) | c.517-19_517-10delGGCCCCTGTGinsCb (P) | c.1370G > A, p.R457H (P) | |