Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems

Number and percentage of female probands with the deviation of laboratory parameters from the reference value and the presence of the clinical indicators_

Parameters/Clinical Indicator	n	%
A thyroid disease	19	6.1
Hor	40	12.5
Est	22	6.9
Prog	3	0.9
An autoimmune disease	6	1.9
PCOS	18	5.6
BMI	44	13.8

Number and percentage of mutations discovered in the male and females probands_

	Males		Females		χ2	p Value
Mutations	n	%	n	%
c.290-13A/C>G	2	0.6	2	0.6	0.043	0.979
p.I172N	2	0.6	2	0.6	1.389	0.499
p.P30L	0	0.0	0	0.0	0.000	0.000
p.V281L	1	0.3	0	0.0	1.405	0.495
Total	5	1.6	4	1.3	2.254	0.324

The c_290-13A/C>G, p_I172N, p_P30L and p_V281L mutation frequencies in couples with unexplained fertility problems and controls_

Mutations	Probands (n=638) (%)	Controls (n=200) (%)	χ2	p Value
c.290-13A/C>G	4 (0.6)	1 (0.5)	0.043	0.836
p.I172N	4 (0.6)	3 (1.5)	1.389	0.239
p.P30L	0 (0.0)	1 (0.5)	3.183	0.074
p.V281L	1 (0.2)	1 (0.5)	0.749	0.387
Total	9 (1.4)	6 (3.0)	2.167	0.141

Ages, mean ages and age ranges of the male and female probands_

	Total	Males	Females
n (probands)	638	319	319
Mean age	32.9	33.8	32.0
Age range (years)	21-44	23-44	21-44

Comparison of clinical parameters of the entire group of female probands with the c_290-13A/C>G, p_I172N, p_P30L and p_V281L mutations and female probands without the c_290-13A/C>G, p_I172N, p_P30L and p_V281L mutations_

Clinical Parameters	c.290-13A/C>G (χ2;pvalue)	p.I172N (χ2;pvalue)	p.P30L (χ2;pvalue)	p.V281L (χ2;pvalue)
A thyroid disease	0.257; 0.613	0.257; 0.613	‒;	0.064; 0.801
Hor	0.581; 0.446	0.581; 0.446	‒;	6.997; 0.008
Est	0.300; 0.584	0.300; 0.584	‒;	0.074; 0.785
Prog	0.038; 0.845	0.038; 0.845	‒;	0.010; 0.922
An autoimmune disease	0.078; 0.781	0.078; 0.781	‒;	0.019; 0.890
PCOS	0.242; 0.623	0.242; 0.623	‒;	16.775; 0.000
BMI	0.648; 0.421	0.648; 0.421	‒;	0.161; 0.689