Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency
Table 2
Results from molecular, clinical, and hormonal analysis of subjects carrying harmful SRD5A2 mutations.
No.
Subject
Mutations
Ethnic background
Age at (years)
Sex rearing (M/F)
EMS
T (ng/ml)
DHT (pg/ml)
T/DHT ratio
Et/An ratio
Diagnosis
Hormonal analysis
1
S007
p.[Gly34Fs]; [Gly34Fs]
Sundanese
11.0
22.7
F
3
7.35
452.00
16.26
6.03
2
S008
p.[Gly34Fs]; [Gly34Fs]
Sundanese
17.0
33.9
F
3
4.48
372.00
12.04
11.55
3
S021
p.[Gly34Fs]; [Gly34Fs]
Javanese
13.0
21.3
F
3
4.88
394.00
12.39
6.45
4
S026
p.[Gly34Fs]; [Gly34Fs]
Javanese
26.0
27.3
F
3
1.97
188.00
10.48
4.05
5
S009
p.[Phe194Ile]; [Phe194Ile]
Sundanese
18.0
21.6
F
3
11.45
490.00
23.37
4.31
6
S010
p.[Phe194Ile]; [Phe194Ile]
Sundanese
13.0
16.8
F
3
9.26
304.00
30.46
3.5
7
S064
p.[Tyr128Cys]; [Tyr128Cys]
Acehnese
5.0
6.4
F
3
0.11
0.01
11,000.00
3.76
8
S065
p.[Tyr128Cys]; [Tyr128Cys]
Acehnese
23.5
23.5
F
3
10.27
376.10
3.93
4.03
9
S001
p.[Gly34Fs]; [c.699-1G>T; p.Val89Leu]
Betawi
18.0
26.3
F
3
6.41
357.95
17.91
8.32
10
S002
p.[Gly34F]; [c.699-1G>T; p.Val89Leu]
Betawi
14.0
22.2
F
3
6.71
702.00
9.56
12.23
11
S027
p.[Gly34Fs]; [Asn193Ser]
Sundanese
27.0
27.4
F
3
10.85
618.00
17.56
9.54
12
S003
p.[Gly34Fs]; c.[34-38delGinsCCAGC]
Javanese
14.0
14.1
F
3
6.47
240.00
26.96
3.44
13
S012
p.[Arg50His]; [Val89Leu]
Javanese
0.5
5.1
M
0
0.01
2.00
5.00
1.20
14
S015
p.[Arg50His]; [Val89Leu]
Batak
7.0
8.9
M
6
0.85
39.00
21.79
0.51
15
S019
p.[Arg50His; Val89Leu]; [Val89Leu]
Javanese/Batak
1.7
1.7
M
6
0.38
23.00
16.52
0.44
16
S004
[c.699-1G>T; p.Val89Leu]; p.[Phe194Ile; Val89Leu]
Sundanese/Chinese
0.4
5.3
M
6
0.74
12.00
61.67
4.32
17
S017
p.[Arg227Gln; Val89Leu]; [Arg227Gln]
Chinese
2.8
2.8
M
9
0.69
1.00
690.00
5.16
18
S068
p.[Arg227Gln]; [c.699-1G>T; p.Val89Leu]
Sundanese/Chinese
41.8
41.8
M
8
8.72
321.53
27.12
2.68
19
S069
p.[Arg227Gln]; [c.699-1G>T; p.Val89Leu]
Sundanese/Chinese
41.8
41.8
M
8
8.30
230.56
36.00
3.39
20
S058
; [Gly191Arg]
Javanese
16.3
16.3
F
1.5
3.67
192.14
19.10
2.99
An: androsterone; DHT: dihydrotestosterone; EMS: external genitalia masculinization score; Et: etiocholanolone; F: female; M: male; T: testosterone. S001 and S002; S007 and S008; S009 and S010; S064 and S065 were siblings; S068 and S069 were twins; S004 was the son of S068.
