Table 2: Data from 10 patients (5 families) of PAIS.

CaseAge1 (yr)Birth weight (g)Birth length (cm)Penile (z)Genital1Genital2T (ng/mL)T/DHTMutation

1*1 c28.8290048−8.741.010.033p.L830F
2*1 c18.8333048−8.442.015.050p.L830F
3*1 c3.0280047−6.242.03.232p.L830F
4*1 c1.6265046−5.242.01.860p.L830F
5*1 c0.2318050−6.245.52.067p.L830F
6*20.8263046−2.725.51.963p.A596T
7*20.2290046−7.522.01.734p.A596T
81.3395049−3.126.02.972p.A896V
919.2340051−7.531.09.646p.R855H
10c6.1315049−4.133.02.357p.M742V

Age1: age at first evaluation, T: total testosterone, +: 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].