Table 1
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 |
Table 2
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 |
Hor: deviation of estrogens and/or 17-OHP and/or testosterone in serum; Est: deviation of estrogens in serum; Prog: deviation of 17-OHP in serum. Autoimune disease: celiac disease; Chron’s disease; psoriasis; rheumatoid arthritis; lupus and ulcerative colitis. PCOS: polycystic ovary syndrome; BMI: body mass index.
Table 3
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 |
Table 4
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 |
Table 5
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 |
Hor: deviation of estrogens and/or 17-OHP and/or testosterone in serum; Est: deviation of estrogens in serum; Prog: deviation of 17-OHP progesterone in serum. Autoimune diseases: celiac disease; Chron’s disease; psoriasis; rheumatoid arthritis; lupus and ulcerative colitis. PCOS: polycystic ovary syndrome; BMI: body mass index.