Table 4.

Autoimmune Disorders in Individuals With CAH Constituting the Four Most Common CYP21A2 Genotype Groups Compared With Age- and Sex-Matched Controls (100 Controls per Case)

Variable	Null			I2 Splice			I172N			P30L
	All (n = 115)	Female Patients (n = 63)	Male Patients (n = 52)	All (n = 155)	Female Patients (n = 85)	Male Patients (n = 70)	All (n = 146)	Female Patients (n = 79)	Male Patients (n = 67)	All (n = 29)	Female Patients (n = 15)	Male Patients (n = 14)
Mean age ± SD, y	23.9 ± 14.8	24.7 ± 13.2	22.9 ± 16.7	23.8 ± 16.7	24.6 ± 17.0	22.7 ± 16.4	32.8 ± 20.4	32.8 ± 18.6	32.7 ± 22.4	25.6 ± 10.3	26.2 ± 10.4	24.9 ± 10.5
Any autoimmune disorder	3 (2.6)	1 (1.6)	2 (3.9)	6 (3.8)	6 (7.1)		13 (8.9)a	6 (7.6)	7 (10.5)a	3 (10.3)b	1 (6.7)	2 (14.2)b
Autoimmune endocrine disorder	2 (1.7)		2 (3.9)a	1 (0.7)	1 (1.1)		4 (2.7)	2 (2.5)	2 (3.0)
Type 1 diabetes							4 (2.7)a	2 (2.5)b	2 (3.0)
Graves disease	2 (1.7)a,c		2 (3.9)a,d	1 (0.7)	1 (1.1)
Autoimmune thyroiditis
Autoimmune GI disorders				3 (1.9)	3 (3.5)		5 (3.4)a	1 (1.3)	4 (6.0)a,c	1 (3.5)		1 (7.1)b
IBD				3 (1.9)b	3 (3.5)a		3 (2.1)b		3 (4.5)a,c	1 (3.5)		1 (7.1)b
Cholangitis							1 (0.7)b	1 (1.3)a
Celiac diseases							1 (0.7)		1 (1.5)
Autoimmune skin disorder	1 (0.9)	1 (1.6)		2 (1.3)	2 (2.4)		2 (1.4)	2 (2.5)		1 (3.5)	1 (6.7)
Psoriasis	1 (0.9)	1 (1.6)		2 (1.3)	2 (2.4)		2 (1.4)	2 (2.5)		1 (3.5)	1 (6.7)b
Rheumatic disease							5 (3.4)a	4 (5.1)a	1 (1.5)	1 (3.5)		1 (7.1)
RA							1 (0.7)	1 (1.3)		1 (3.5)b		1 (7.1)a
Systemic CTD							4 (2.7)a	3 (3.8)a	1 (1.5)
Ankylosing spondylitis							1 (0.7)	1 (1.3)a

Severity of the genotype ranging from left to right. Unless otherwise noted, values are n (%). Autoimmune thyroiditis is often called Hashimoto thyroiditis. The numbers are not displayed if no patient had the condition but analysis showed P > 0.10.

Abbreviations: CTD, connective tissue disorders; GI, gastrointestinal; RA, rheumatoid arthritis.

^a P < 0.05.

^b P = 0.05–0.09.

^c P < 0.01.

^d P < 0.001.