Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency : Table 2

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


Case	Age1 (yr)	Birth weight (g)	Birth length (cm)	Penile (z)	Genital¹	Genital²	T (ng/mL)	T/DHT	Mutation

1^{*1 c}	28.8	2900	48	−8.7	4	1.0	10.0	33	p.L830F
2^{*1 c}	18.8	3330	48	−8.4	4	2.0	15.0	50	p.L830F
3^{*1 c}	3.0	2800	47	−6.2	4	2.0	3.2	32	p.L830F
4^{*1 c}	1.6	2650	46	−5.2	4	2.0	1.8	60	p.L830F
5^{*1 c}	0.2	3180	50	−6.2	4	5.5	2.0	67	p.L830F
6^*2	0.8	2630	46	−2.7	2	5.5	1.9	63	p.A596T
7^*2	0.2	2900	46	−7.5	2	2.0	1.7	34	p.A596T
8	1.3	3950	49	−3.1	2	6.0	2.9	72	p.A896V
9	19.2	3400	51	−7.5	3	1.0	9.6	46	p.R855H
10^c	6.1	3150	49	−4.1	3	3.0	2.3	57	p.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].