Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia patients

BMC Endocrine Disorders

Table 1 Clinical, Biochemical & Genotype Status of CAH Patients

ID	Sex	Ethnicity	Genotype	Phenotype	Na*	K*	17 OHP
1	M	-	I2 splice/I2 splice	SW	122	8.6	273.2
2	M	-	I2 splice/-	SV	140	3.8	0.1
3	M	Urdu Speaking	Arg357Trp/-	SV	137	4.4	57
4	F	Urdu speaking	I2 splice/I2 splice	SW	124	6	>400
5	M	Afghani	ND	SV	141	5.6	51
6	F	Urdu speaking	I2 splice/-	SV	130	3.4	59.4
7	F	Urdu speaking	I2 splice/I2 splice	SW	140	6.6	201
8	F	Sindhi	Pro31Leu/Ile173Asn/Arg357Trp/Gln319stop/Leu308insT/Val238Glu	SW	125	7.9	400
9	F	Punjabi	Arg357Trp/Gln319stop/Leu3081nsT/	SW	136	5.2	1.4
10	F	Sindhi	Ile173Asn/Ile173Asn	SV	139	4.3	226.4
11	M	Punjabi	Pro31Leu/Pro31Leu	SW	98	7	185.8
12	M	Pathan	Ile173Asn/Arg357Trp/Gln319stop/Leu3081nsT	SW	115	7.9	31.8
13	M	Sindhi	Arg357Trp/Gln319sto/Val238Glu	SW	104	7.8	>400
14	F	Punjabi	Ile173Asn/Ile173Asn/Arg357Trp/Gln319stop/Leu308insT/Val238Glu	SV	-	-	60.8
15	F	Punjabi	ND	SV	143	3.6	150
16	M	Pathan	Arg357Trp/Gln319stop/Leu3081nsT	SW			9.5
17	M	Afghani	Ile173Asn/Ile173Asn/Arg357Trp/Leu3081nsT	SW	147	5.8	125
18	F	Afghani	Ile173Asn/Ile173Asn/Arg357Trp/Gln319stop/Leu308insT/Val238Glu	SV	131	4.6	48.2
19	M	Urdu speaking	Ile173Asn/Ile173Asn/Arg357Trp/Gln319stop	SV	141	4.6	>400
20	M	Sindhi	Pro31Leu/Arg357Trp/Val238Glu/Gln319stop	SV	134	5.1	92
21	M	Pathan	I2 splice/-	SV	139	5.2	9.2
22	F	Punjabi	ND	SV	139	4.4	20
23	F	Pathan	I2 splice/I2 splice	SW	128	5.3	166.4
24	M	Urdu Speaking	I2 splice/-	SW	134	4.3	77.8
25	F	Urdu speaking	I2 splice/I2 splice	SW	128	5.2	>20
26	M	Afghani	Pro31Leu/-	SW	115	5.7	97.6
27	F	Punjabi	Ile173Asn/Ile173Asn	SW	120	5	>400
28	F	Urdu Speaking	I2 splice/I2 splice	SW	-	-	109.8
29	F	Sindhi	Ile173Asn/-	SW	122	6	21.4

Na^+:: sodium; K⁺: potassium; 17OHP: 17 hydroxyprogestron; SW: salt wasters; SV: simple virilizers

ISSN: 1472-6823