Characterising SRD5A2 Gene Variants in 37 Indonesian Patients with 5-Alpha-Reductase Type 2 Deficiency

Table 3

Results from molecular, clinical, and hormonal analysis of subjects carrying benign mutations in both alleles.

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	S056	p.[Val89Leu]; [Ile253Val]	Buginese	0.3	2.4	M	9.5	0.03	0.08	375.00	1.03
2	S016	p.[Val89Leu]; [Val89Leu]	Batak	5.0	5.1	M	8.0	0.14	20.00	7.00	1.17
3	S020	p.[Val89Leu]; [Val89Leu]	Batak	10.0	11.4	M	3.0	0.37	65.00	5.69	0.73
4	S025	p.[Val89Leu]; [Val89Leu]	Batak	6.0	6.0	M	3.0	0.08	0.001	80.00	0.53
5	S034	p.[Val89Leu]; [Val89Leu]	Toraja	0.2	1.9	M	3.0	0.36	0.32	1,125.00	1.03
6	S035	p.[Val89Leu]; [Val89Leu]	Javanese	9.0	14.0	M	10.5	12.72	307.28	41.40	0.36
7	S037	p.[Val89Leu]; [Val89Leu]	Javanese	0	7.6	M	1.5	0.13	22.81	5.70	2.37
8	S040	p.[Val89Leu]; [Val89Leu]	Javanese	0.1	5.5	M	0	0.01	0.10	100.00	1.15
9	S041	p.[Val89Leu]; [Val89Leu]	Javanese	0	7.7	M	0	0.04	0.03	1,333.33	0.03
10	S042	p.[Val89Leu]; [Val89Leu]	Javanese	6.0	6.8	M	9.0	0.03	281.25	0.11	0.55
11	S047	p.[Val89Leu]; [Val89Leu]	Malay	0.4	0.5	M	6.0	1.92	1.77	1,084.75	0.35
12	S048	p.[Val89Leu]; [Val89Leu]	Betawi	0.1	0.1	M	6.0	1.13	132.51	8.53	0.24
13	S050	p.[Val89Leu]; [Val89Leu]	Javanese	1.5	1.5	M	3.0	0.05	0.44	113.64	0.51
14	S055	p.[Val89Leu]; [Val89Leu]	Batak	1.0	1.5	M	6.0	0.70	0.01	70,000.00	1.01
15	S063	p.[Val89Leu]; [Val89Leu]	Buginese	6.0	10.4	M	3.0	0.06	575.69	0.10	0.32
16	S066	p.[Val89Leu]; [Val89Leu]	Batak	0.4	0.4	M	3.0	0.65	14.62	44.46	3.58
17	S067	p.[Val89Leu]; [Val89Leu]	Javanese	0.5	2.4	M	2.0	0.08	1.07	74.77	4.20

An: androsterone; DHT: dihydrotestosterone; EMS: external genitalia masculinization score; Et: etiocholanolone; F: female; M: male; T: testosterone.