Table 3.

Genotype frequency for the three subtypes of 21-OHD.

Phenotype	Genotype	Number of patients
SW	Del/Del	1
	E3 D8bp/Del	1
	c.290-13A/C > G/Del	3
	p.Ile172Asn/Del	1
	[c.290-13A/C > G; p.Ile172Asn]/Del	1
	c.290-13A/C > G/p.[Ile172Asn; Gln318Ter]	1
	[c.290-13A/C > G; p.Ile172Asn]/[c.290-13A/C > G;p.Ile172Asn]	1
SV	Del/UD	4
	p.Ile172Asn/Del	5
	p.Ile172Asn/UD	1
	c.290-13A/C > G/p.Ile172Asn	3
	p.Ile172Asn/p.Ile172Asn	2
	p.Ile172Asn/[c.290-13A/C > G; p.Ile172Asn]	4
	p.Ile172Asn/p.Gln318Ter	2
	c.290-13A/C > G/p.Gln318Ter	2
	p.Pro30Leu/p.Arg356Trp	1
	p.[[Ile236Asn;Val237Glu;Met239Lys];Gln318Ter]/p.[Ile236Asn; Val237Glu; Met239Lys]	1
	UD/UD	1
NC	c.290-13A/C > G/p.Pro30Leu	1
	[c.290-13A/C > G; p.Pro30Leu]/p.Pro30Leu	1
	p.Pro30Leu/[c.290-13A/C > G; p.Ile172Asn]	1
	p.Pro30Leu/p.Ile172Asn	1
	p.Pro30Leu/p.Arg356Trp	1
	p.Val281Leu/p.Val281Leu	1
	p.Val281Leu/p.Gln318Ter	1
	p.Ile172Asn/p.Val281Leu	1

SW, salt-wasting form; SV, classical simple virilizing form at birth; NC, non-classical form with late-onset symptoms and diagnosis