Table 2.
Detailed distribution by 5 CGG repeat bands up through the premutation in patients with POI, DOR and controls
| FMR1 CGG Repeats | N | <25 | 25–29 | 30–34 | 35–39 | 40–44 | 45–54 (Intermediate) | 55–199 (Premutation) |
|---|---|---|---|---|---|---|---|---|
| Allele1 | ||||||||
| POI group, N (%) | 124 | 2 (1.6) | 65 (52.4) | 52 (41.9) | 4 (3.2) | 1 (0.8) | 0 | 0 |
| Age at menopause, yrs., mean (SD) | 16.5 (2.1) | 28.9 (7.3) | 28.7 (6.5) | 23.5 (6) | 22 | |||
| FSH (IU/l), mean (SD) | 95.2 (43.3) | 79 (36.2) | 81.4 (38.5) | 67.5 (34.9) | 129.3 | |||
| AMH (ng/ml), mean (SD) | 0 | 0.1 (0.3) | 0 (0.1) | 0 | 0 | |||
| DOR group, N (%) | 57 | 5 (8.8) | 22 (38.6) | 29 (50.9) | 1 (1.8) | 0 | 0 | 0 |
| FSH (IU/l), mean (SD) | 17.8 (8.8) | 15.5 (4.7) | 14.1 (3.9) | 16.9 | ||||
| AMH (ng/ml), mean (SD) | 1.0 (0.9) | 0.7 (0.6) | 0.8 (0.8) | 0.9 | ||||
| Control group, N (%) | 111 | 9 (8.1) | 24 (21.6) | 72 (64.9) | 5 (4.5) | 1 (0.9) | 0 | 0 |
| Age at menopause, yrs., mean (SD) | 52 (2) | 50.5 (3.3) | 50.5 (2.9) | 52.8 (4) | 51.0 | |||
| FSH (IU/l), mean (SD) | 27.3 (29.5) | 26.9 (26.9) | 32.5 (32.7) | 21.8 (29.6) | 52.9 | |||
| Allele2 | ||||||||
| POI group, N (%) | 124 | 0 | 29 (23.4) | 56 (45.2) | 27 (21.8) | 9 (7.3) | 1 (0.8) | 2 (1.6) |
| Age at menopause, yrs., mean (SD) | 29.6 (6.7) | 27.9 (7.4) | 27.6 (7.5) | 27.8 (5.5) | 30.0 | 35.5 (2.1) | ||
| FSH (IU/l), mean (SD) | 87.2 (36.8) | 80.8 (39.5) | 76.5 (36.2) | 70.2 (29.6) | 110.5 | 59.1 (10.3) | ||
| AMH (ng/ml), mean (SD) | 0.0 | 0.1 (0.3) | 0.0 | 0.0 | 0.0 | 0.1 (0.2) | ||
| DOR group, N (%) | 57 | 0 | 13 (22.8) | 30 (52.6) | 10 (17.5) | 3 (5.3) | 1 (1.8) | 0 |
| FSH (IU/l), mean (SD) | 15.9 (4.7) | 14.4 (5.3) | 15.3 (3.8) | 17.4 (1.5) | 11.0 | |||
| AMH (ng/ml), mean (SD) | 0.5 (0.6) | 0.9 (0.9) | 0.9 (0.6) | 0.4 (0.3) | 0.7 | |||
| Control group, N (%) | 111 | 0 | 22 (19.8) | 54 (48.6) | 26 (23.4) | 6 (5.4) | 2 (1.8) | 1 (0.9) |
| Age at menopause, yrs., mean (SD) | 51.3 (3) | 50.5 (3.1) | 50.9 (3) | 51 (1.9) | 46.5 (2.1) | 51.0 | ||
| FSH (IU/l), mean (SD) | 23.6 (25.3) | 28.8 (30.7) | 39.3 (34.5) | 15.2 (18.8) | 68.9 (32.3) | 52.9 | ||
Fisher’s exact tests for allele 1: comparison by POI versus control (P < 0.001); comparison by DOR versus control (P = 0.148). Fisher’s exact tests for allele 2: comparison by POI versus control (P = 0.903); comparison by DOR versus control (P = 0.884). The menopausal ages, values of FSH and AMH of women with different CGG repeats groups showed no statistically significant difference (P > 0.05)
Abbreviation: POI Primary ovarian insufficiency, DOR Diminished ovarian reserve, FSH Follicle-stimulating hormone, AMH Anti-mullerian hormone