Cytochrome P450 oxidoreductase deficiency caused by R457H mutation in POR gene in Chinese: case report and literature review

Table 1 Summary of the PORD cases reported in the literature

Number of cases	Ethnicity (Japanese: European:others)	Gender (female:male)	Age (infant:adult)	POR mutation	skeletal deformities	Gonadal deformities	Hormonal abnormalities or delayed puberty	Maternal virilization	Adrenal insufficiency or crisis	Ovarian cysts	References^a
1	0:0:1	1:0	1:0	2/2	0	1	1	0	–	–	[25]
1	0:0:1	1:0	1:0	2/2	1	1	1	1	1	1	[26]
2/3	0:2:0	1:0	2:0	4/4	2	2	–	0	–	–	[27]
1	0:1:0	0:1	0:1	2/2	0	1	1	–	0/1	–	[28]
30^b	0:26:4	18:12	23:7	54/60	27	22	28	1/3	24/27	4/4	[16]
2	0:0:2	2:0	2:0	4/4	2	2	2	–	2	0	[29]
4	0:0:4	3:1	2:2	8/8	3	3	4	1/1	4	0	[30]
35^c	35:0:0	19:16	21:14	70/70	28	26	35	17/35	11/21	8/18	[13]
1	0:0:1	1:0	1:0	2/2	1	1	1	0	1	–	[31]
4	0:0:4	0:4	4:0	8/8	0	4	4	0	4	–	[32]
1	0:1:0	1:0	1:0	1/2	1	1	1	0	–	–	[33]
19/38^d	3:11:5	6:10	19:0	34/38	19	12	10	–	2/5	–	[11]
3/4^e	0:3	1:2	2:1	5/6	2	2	3	–	1/1	1/1	[6]
104	38:46:20	54:46	79:25	94.2%	82.7%	75%	89.2%	40.8%	74.6%	46.7%

^aBecause some of the cases in the older literature have also been described in newer reports, the order of the literature descends from newer to older, and repeated cases have been omitted
^bThere were 30 cases reported in this study with 17 cases repeated from older reports
^cThis study reported 35 cases, and among them, 23 cases were repeated from older reports
^dThe literature reported 38 cases. In the 32 cases who were suspected to have ABS, POR gene mutations were identified in 19 cases; for FGFR2, three mutations were identified in nine cases; no gene mutations were found in four cases; and another six cases were Beare–Stevenson syndrome patients
^eThis study reported PORD for the first time, in which one case was repeated in a subsequent large-sample report, so it was omitted

ISSN: 1757-2215