Variations in the 3′UTR of the CYP21A2 Gene in Heterozygous Females with Hyperandrogenaemia

Table 1

Phenotype-genotype correlation of the 66 females with CYP21A2 heterozygote mutations. The hormonal analyses for 17-OHP were performed in 52 patients. Two of the patients with p.Val281Leu/X had stimulated 17-OHP levels more than 60.5 nmol/l viewing the possibility of an additional unidentified mutation and were excluded from the statistical evaluation.

	Phenotype	Genotype
		p.Val281Leu/X	p.Gln318/X	p.Pro482Ser/X	p.Val304Met/X	p.Pro453Ser/X	p.Ala391Thr/X	Large Del 1_4	Del EX 6_8	8bpdeE3/X
Children		12	2	—	1	2	—	1	1	—
	Basal 17-OHP; (nmol/l)	2.2–7.7	15.6		8.3	2.2		2.4
	Stimulated 17-OHP; (nmol/l)	20–24.2	27		13.7	32		14.5
Adolescents		8	5	2	2	—	—	—	—	—
	Basal 17-OHP; (nmol/l)	2.6–12.4	4.2–9.2	3.5–6.7	2.4–5.1
	Stimulated 17-OHP; (nmol/l)	11–28	10.3–19.6	14.2–17.1	9.6–4.8
Adults		15	5	5	1	2	1	—	—	1
	Basal 17-OHP; (nmol/l)	3.4–14.2	4.6–17.6	1.7–8.9	5.6	4.4	6.1			8.8
	Stimulated 17-OHP; (nmol/l)	11–30.2	1.4–18.1	8.9–14.7	12	21.1	15.8			12.3