Table 1: Data from 9 patients (7 families) of 5α-reductase type 2 deficiency.

CaseAge 1 (yr)Birth weight (g)Birth length (cm)Penile (z)Genital1Genital2T (ng/mL)T/DHTMut1Mut2

1c0.06322050−4.643.02.828p.G183Sp.G183S
2c18.2290048−4.232.59.045c.418delTc.418delT
3c14.6280047−4.132.02.828p.R246Wp.R246W
45.4270048−4.129.02.273c.278delGc.278delG
5*13.0281047−4.031.01.860p.Q126Rp.G158R
6*10.05350050−4.033.02.244p.Q126Rp.G158R
7c,r16.7260047−4.232.54.982p.G196Sp.G196S
8*2c,r17.3290049−3.935.513.668p.Q126Rp.Q126R
9*2c,r11.0260048−3.134.01.963p.Q126Rp.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].