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

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)	Genital^1	Genital^2	T (ng/mL)	T/DHT	Mut1	Mut2
1^c	0.06	3220	50	−4.6	4	3.0	2.8	28	p.G183S	p.G183S
2^c	18.2	2900	48	−4.2	3	2.5	9.0	45	c.418delT	c.418delT
3^c	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
7^c,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].