Table 1 Phenotypical and histological characteristics in postpubertal patients with 5α-reductase type 2 deficiency
Patient number | Age (years) | Caryotype | Clinical presentation | TV (ml)/TW (g)* | FSH (IU/L)/(xULN)** | T (ng/ml) | T/DHT ratio*** | SRD5A2 sequencing | Histology | Reference (publication year) |
|---|---|---|---|---|---|---|---|---|---|---|
1 | 14 | 46,XY | Female PA; cryptorchidism | 7/NA | 20.0/(2.0) | 3.6 | 36 | NA | SGA | [22] (1986) |
2 | 16 | 46,XY | Female | NA | 38.3/(5.0) | NA | NA | NA | PST (1%) | [5] (1999) |
PA; PPH; | SCA (14%) | |||||||||
clitoromegaly | ||||||||||
cryptorchidism§ | SGA (25%) | |||||||||
SCO (60%) | ||||||||||
3 | 16 | 46,XY | Female | 3/ 15.5 | 1.0/(0.5) | 5.8 | 29 | NA | SCA | [22] (1986) |
PA; PPH; 4 cm phallus | SGA | |||||||||
cryptorchidism§ | SCO | |||||||||
4 | 16 | 46,XY | F emale PA; PPH; 3 cm phallus cryptorchidism | 11/ 22 | 4.5/NA | 11.4 | 34.5 | NA | Normal | [22] (1986) |
5 | 16 | 46,XY | Female PA; cryptorchidism | NA | 8.7/(1.0) | 9.0 | 225 | NA | SGA | [22] (1986) |
6 | 17 | 46,XY | Female PA; PPH; 3 cm phallus | 3/NA | 20/(1.0) | 7.2 | NA | NA | SCO | [24] (1980) |
7 | 18 | 46,XY | Female PA; PPH; 3 cm phallus | 3/NA | 56/(3.1) | 6.8 | NA | NA | SCO | [24] (1980) |
8 | 18 | 46,XY | Female PA; PPH; 1.5 cm phallus | 15/NA | 5.5/(1.1) | 10 | 39 | NA | Normal | [19] (1980) |
9 | 18 | 46,XY | Female PA; PPH; clitoromegaly cryptorchidism§ | NA | 9.0/(1.3) | NA | NA | NA | PST (10%) | [5] (1999) |
SCO (90%) | ||||||||||
10 | 18 | 46,XY | Female PA; PPH; clitoromegaly | NA | 13.0/(2.0) | NA | NA | NA | PST (4%) | [5] (1999) |
SCO (96%) | ||||||||||
11 | 25 | 46,XY | Female PA; PPH; 3 cm phallus | NA | NA | 11 | 42 | NA | Normal | [23] (1979) |
12 | 35 | 46,XY | Female PA | 8/NA | 32.0/(3.2) | 6.7 | 33.5 | NA | Normal SCO | [22] (1986) |
13 | 45 | 46,XY | NA | NA | NA | NA | NA | NA | Normal | [25] (1977) |
14 | 65 | 46,XY | Male perineal hypospadias; 6 cm phallus cryptorchidism | NA | 40/(4.0) | 5.9 | 38 | NA | SCO (100%) | [21] (1980) |
15 | NA | 46,XY | NA | NA | NA | NA | NA | NA | Normal | [20] (1982) |
Our case | 17 | 46,XY | Female PA; PPH; clitoromegaly cryptorchidism | 9/ 8 | 14.5/(2.0) | 7.2 | 45 | Gly115Asp | PST (8%) | present paper |
SCO (92%) |