Genetic Analysis of 25 Patients with 5α-Reductase Deficiency in Chinese Population

Table 1

Clinical and genetic characteristics of the patients.

Patient no.	Location	Age of diagnose	Sex of rearing at birth	EMS	SRD5A2 mutation
1	Sichuan	22 yr	F to M	3	p.Gln6/p.Lys35Asn/p.Phe234Leu
2	Guizhou	23 yr	M	6	p.Gly203Ser/p.Arg227Gln/p.Gly34Arg
3	Sichuan	20 yr	M	5	p.Leu20Pro/p.Arg246Gln
4	Jiangxi	19 yr	M	6	p.Gly203Ser/p.Gly203Ser
5	Liaoning	23 yr	F to M	2	p.Ala228Val/---
6	Guizhou	24 yr	F	2	p.Gln6/---
7	—	30 yr	M	2	p.Tyr136/p.Tyr136
8	Guizhou	18 yr	F to M	2	p.Gln6/p.His162Pro
9	Guizhou	18 yr	F to M	2	p.Gln6/p.His162Pro
10	Guizhou	5 yr	F to M	2	p.Gly203Ser/p.Gly203Ser
11	Anhui	11 yr	F to M	2	p.Gln6/p.Arg227Gln
12	Hubei	23 yr	F to M	2	p.Gln6/p.Asn193Ser
13	Yunnan	18 yr	M	5	p.Arg171Ser/p.Gly196Val
14	Guizhou	34 yr	F to M	3	p.Leu20Pro/p.Arg227
15	Jiangxi	4 yr	M	9	p.Val89Leu/c.655del
16	Jiangsu	4 d	F to M	3	p.Gly203Ser/p.Arg227Gln
17	Henna	14 yr	F to M	2.5	c.698+2T>C/c.698+2T>C
18	Zhejiang	12 yr	F to M	2.5	p.Arg246Gln/p.Arg246Gln
19	Anhui	18 yr	F to M	2.5	p.Arg246Gln/p.Asn193Ser
20	Jiangxi	17 yr	F to M	3	p.Gly203Ser/p.Arg246Gln
21	—	18 yr	M	9	p.Gly203Ser/c.182-2A>G
22	—	23 yr	F to M	3	p.Gly203Ser/c.182-2A>G
23	Jiangxi	16 yr	F to M	3	p.Ala228Val/p.Ala228Val
24	Henan	23 yr	F to M	2.5	p.Ala228Val/p.Ala228Val
25	Shandong	16 yr	F to M	2	p.Gln6/p.Gly203Ser

F: female; M: male; EMS: external masculinization score. --- indicates no mutation in another chromosome.