Table 2.

CYP21A2 genotype, newborn analytes, and illness in infants with congenital adrenal hyperplasia

Infant	Genotype	Group	Predicted phenotype	Clinical phenotype	17-OHP, ng/dL	Epinephrine, pg/mL	Illness events
1	Deletion/deletion	Null	SW	SW	41 970	84	2
2	Deletion/deletion	Null	SW	SW	20 151	39	3
3	p.R356W/deletion	Null	SW	SW	18 678	87	4
4	p.G110EfsX21/p.G110EfsX21	Null	SW	SW	11 220	31	7
5	g.5774A/C > G/p.G110EfsX21	A	SW/SV	SW	19 934	79.99	0
6	g.5774A/C > G/p.P453S/deletion	A	SW	SW	14 442	39.99	0
7	g.5774A/C > G/c.1451-1452 del	A	SW/SV	SW	16 796	39.99	4
8	p.R356W/g.5774A/C > G	A	SW/SV	SW	17 777	79.99	1
9	p.Leu307fs/c.1451-1452 del	A	SW	SW	20 808	39.99	6
10	p.I172N,p.P453S/p.G110EfsX21	B	SV	SW	26 695	79.99	2
11	p.I172N/p.I172N	B	SV	SV	5219	221	1
12	p.I172N/p.I172N	B	SV	SV	13 444	84	3
13	p.I172N/p.I172N	B	SV	SV	10 406	83	0
14	p.I172N/p.I172N	B	SV	SV	2062	78	2
15	p.172N/g.5774A/C > G	B	SV	SV	6519	150	0

Abbreviations: 17-OHP, 17-hydroxyprogesterone; SV, simple-virilizing; SW, salt-wasting.