Table 1.
Clinical and biochemical characteristics of the study group and of patients with HI
| All patients | Patients with HI | |
|---|---|---|
| Patients, n | 66 | 19 |
| Age, years | 8.65±5.1 (3.1–21.9) | 10.88±6.4 (3.1–21.9) |
| Gender (M:F) | 34:32 | 10:9 |
| Age at diagnosis of CH, days | 11.08±9.0 (2–49) | 11.19±7.0 (2–24) |
| Age at initiation of LT4 therapy, days | 13.21±10.8 (2–62) | 13.27±6.3 (2–24) |
| Screening TT4, µg/dL | 4.7±2.9 (0.5–13) | 3.4±2.0 (0.8–8.2) |
| Laboratory FT4, pmol/L | 5.6±4.6 (0.3–19.2) | 4.03±2.4 (0.3–8) |
| Etiology | ||
| Dysgenesis | 41 (62%) | 9 |
| Agenesis | 13 | 2 |
| Ectopic thyroid | 28 | 7 |
| Dyshormonogenesis | 19 (29%) | 7 |
| TPO mutations | 12 | 7 |
| TSHR mutations | 6 | 0 |
| Thyroglobulin mutation | 1 | 0 |
| Transient CH | 5 (7.6%) | 2 |
| Unknown | 1 (1.4%) | 0 |
Values denote mean ± SD (range) or n (%). HI, hearing impairment; CH, congenital hypothyroidism; LT4, levothyroxine; TT4, total T4; FT4, free T4; TPO, thyroid peroxidase; TSHR, TSH receptor.