Clinical and Laboratorial Features That May Differentiate 46,XY DSD due to Partial Androgen Insensitivity and 5α-Reductase Type 2 Deficiency
Table 3
Data from 39 patients without molecular defects in SRD5A2 and AR genes.
Case
Age1
Birth weight (g)
Birth length (cm)
Penile (z)
Genital1
Genital2
T (ng/mL)
T/DHT
1
0.6
2800
47
−4.0
3
5.5
3.7
18
2r
0.08
2650
46
−2.7
2
6.0
3.5
12
3
0.04
2740
47
−4.0
2
6.0
1.9
95
4
0.4
2410
46
−2.7
2
5.0
1.7
8
5
2.8
2700
48
−1.2
2
10.0
1.7
8
6r
4.1
2800
47
−1.1
2
10.0
2.1
7
7
0.6
1650
41
−3.4
2
6.5
2.1
10
8
0.8
2580
46
−3.0
2
8.0
2.7
13
9
13.8
2900
47
−6.5
3
5.0
1.7
1
10r
20.7
2700
46
−5.6
2
6.0
16.0
5
11
0.8
3000
47
−3.4
3
6.0
1.5
3
12
2.4
2500
49
−3.1
3
1.0
1.9
4
13r
2.3
2010
44
−3.7
2
5.0
1.8
6
14r
0.8
2900
47
−3.0
2
6.0
3.4
11
15
8.1
2800
48
−2.0
2
10.0
1.8
30
16r
0.3
2650
47
−2.7
2
5.5
3.6
18
17
10.2
2110
43
−3.1
2
8.0
1.8
18
18
3.8
1430
39
−4.0
2
5.5
2.0
22
19r
0.5
2500
45
−2.7
2
6.0
1.9
9
20
0.04
2810
46
−2.1
3
6.0
2.4
6
21
0.1
2160
43
−2.7
2
6.0
2.3
8
22
0.2
2600
47
−3.4
2
5.0
3.4
8
23r
0.1
3000
48
−4.2
2
5.0
2.0
10
24r
0.5
2700
48
−2.4
2
9.0
6.6
17
25
0.07
1740
42
−3.1
2
5.0
1.8
9
26c
0.4
1700
41
−2.1
2
9.0
2.7
9
27
1.9
2330
42
−2.9
2
6.0
3.4
17
28
0.02
2900
49
−2.7
2
6.0
1.8
9
29
0.2
1540
40
−4.5
2
6.0
1.7
8
30
0.06
2190
42
−3.4
3
3.0
2.6
5
31
0.7
1430
40
−3.4
2
6.0
1.6
8
32
0.2
2250
43
−2.4
3
5.5
1.6
55
33r
0.3
2990
49
−2.4
2
6.0
1.6
16
34
10.9
2800
47
−6.6
3
1.0
1.7
8
35
2.6
2700
49
−3.1
2
6.0
4.0
13
36
0.1
2800
50
−2.1
2
8.5
1.9
18
37r
3.7
2450
49
−2.7
2
4.0
2.5
12
38c,r
0.02
2900
48
−2.7
3
6.0
2.2
4
39r
2.7
3400
51
−5.9
2
1.0
1.9
12
Age1: age at first evaluation, +: present, −: absent, c: presence of consanguinity, r: presence of familial recurrence, T: total testosterone, Genital1: external genitalia according to Sinnecker et al. [9], Genital2: external genitalia according to Ahmed et al. [10].
