Table 1.
Data from 9 patients (7 families) of 5α-reductase type 2 deficiency.
| Case | Age 1 (yr) | Birth weight (g) | Birth length (cm) | Penile (z) | Genital1 | Genital2 | T (ng/mL) | T/DHT | Mut1 | Mut2 |
|---|---|---|---|---|---|---|---|---|---|---|
| 1c | 0.06 | 3220 | 50 | −4.6 | 4 | 3.0 | 2.8 | 28 | p.G183S | p.G183S |
| 2c | 18.2 | 2900 | 48 | −4.2 | 3 | 2.5 | 9.0 | 45 | c.418delT | c.418delT |
| 3c | 14.6 | 2800 | 47 | −4.1 | 3 | 2.0 | 2.8 | 28 | p.R246W | p.R246W |
| 4 | 5.4 | 2700 | 48 | −4.1 | 2 | 9.0 | 2.2 | 73 | c.278delG | c.278delG |
| 5∗1 | 3.0 | 2810 | 47 | −4.0 | 3 | 1.0 | 1.8 | 60 | p.Q126R | p.G158R |
| 6∗1 | 0.05 | 3500 | 50 | −4.0 | 3 | 3.0 | 2.2 | 44 | p.Q126R | p.G158R |
| 7c,r | 16.7 | 2600 | 47 | −4.2 | 3 | 2.5 | 4.9 | 82 | p.G196S | p.G196S |
| 8∗2c,r | 17.3 | 2900 | 49 | −3.9 | 3 | 5.5 | 13.6 | 68 | p.Q126R | p.Q126R |
| 9∗2c,r | 11.0 | 2600 | 48 | −3.1 | 3 | 4.0 | 1.9 | 63 | p.Q126R | p.Q126R |
Age1: age at first evaluation, T: total testosterone, Mut1: mutation 1, Mut2: mutation 2, +: present, −: absent, *: related, c: presence of consanguinity, r: presence of familial recurrence, Genital1: external genitalia according to Sinnecker et al. [9], Genital2: external genitalia according to Ahmed et al. [10].