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Table 1 Clinical, Biochemical & Genotype Status of CAH Patients

From: Ethnic disparity in 21-hydroxylase gene mutations identified in Pakistani congenital adrenal hyperplasia 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
  1. Na+:: sodium; K+: potassium; 17OHP: 17 hydroxyprogestron; SW: salt wasters; SV: simple virilizers