Table 2.
Individual patient characteristics.
| Final Diagnosis After Long-Term Follow-Up |
Patient Number | Sex | Birth Weight (g) | Gestational Age/Postmenstrual Age (Weeks) | Newborn Screening Results | Confirmatory Testing Results (Serum) | L-T4 Dosage at Age 2 Years (µg/kg) | Annotations | |||
|---|---|---|---|---|---|---|---|---|---|---|---|
| At Birth |
At Diagnosis | First Screen | Max. TSH (mU/L) | TSH (mU/L) | FT4 (pmol/L) | ||||||
|
Severe permanent
hypothyroidism |
1 | f | 1600 | 29 | 30 | pos. | 323 | >100 | 1.4 | 3.8 | Thyroid dysplasia. Dizygotic twin of euthyroid co-twin. |
| 2 | m | 1550 | 30 | 32 | pos. | 532 | 1365 | 1.7 | 5.8 | Athyreosis. | |
| 3 | m | 960 | 27 | 28 | pos. | 222 | 101 | N/A | 4.6 | Thyroid dysplasia. | |
| 4 | f | 1450 | 30 | 32 | pos. | 218 | 459 | N/A | 3.1 | Thyroid dysplasia. Identical twin of euthyroid co-twin. | |
| 5 | m | 1410 | 29 | 29 | pos. | 341 | >100 | 3.4 | 3.8 | ||
| 6 | f | 1200 | 28 | 34 | neg. | 731 | >100 | <0.3 | 4.4 | Athyreosis. Identical twin of euthyroid co-twin. Delayed re-screening in spite of tracking. | |
| 7 | f | 1115 | 29 | 39 | neg. | 875 | >100 | 1.5 | 5 | Thyroid dysplasia. Identical twin of euthyroid co-twin. Born before implementation of re-screening at 32 weeks. | |
| 8 | m | 460 | 25 | 28 | neg. | 149 | 280 | TT4 low | 3 | First screen under the influence of high-dose dopamine. | |
|
Mild permanent
hypothyroidism |
9 | f | 1300 | 29 | 29 | pos. | 122 | 92 | 12.9 | 4 | Family history of hypothyroidism. |
| 10 | m | 620 | 25 | 33 | neg. | 306 | 629 | 1.3 | 4.8 | Dyshormonogenesis assumed. | |
| 11 | m | 1730 | 30 | 40 | neg. | 275 | >100 | 6.7 | 2.8 | Negative control at age 2 weeks. | |
| 12 | f | 1200 | 29 | 33 | neg. | 34 | 62 | 7.0 | 4.3 | Identical twin of patient 13. Family history of hypothyroidism. | |
| 13 | f | 1420 | 29 | 33 | neg. | 11 | 30 | 11.1 | 3.7 | Identical twin of patient 12. Family history of hypothyroidism. | |
| 14 | m | 1495 | 30 | 34 | neg. | 23 | 27 | 12.9 | 3.3 | Family history of thyroid disorders | |
| Transient hypothyroidism | 15 | m | 1640 | 31 | 33 | neg. | 30 | 210 | 2.8 | 0 | |
| 16 | f | 1730 | 31 | 34 | neg. | 87 | 64 | 3.3 | 0 | ||
| 17 | m | 870 | 28 | 32 | neg. | 19 | 19 | 5.1 | 1.7 | Identical twin of euthyroid co-twin. End of therapy at 44 months. | |
| 18 | f | 1060 | 30 | 32 | neg. | 26 | 77 | 5.1 | 1.2 | Dizygotic twin of euthyroid co-twin. End of therapy at 27 months. | |
| 19 | m | 860 | 27 | 34 | neg. | 254 | 264 | 5.2 | 2.2 | End of therapy at 75 months | |
| 20 | m | 670 | 25 | 34 | neg. | 250 | 33 | 5.4 | 0 | Iodinated contrast agent. | |
| 21 | m | 655 | 24 | 27 | neg. | 44 | 77 | 6.2 | 1.3 | End of therapy at 30 months. | |
| 22 | f | 1170 | 28 | 32 | neg. | 165 | 233 | 6.4 | 0 | Iodinated contrast agent. | |
| 23 | m | 1420 | 30 | 32 | neg. | 19 | 43 | 7.7 | 1 | End of therapy at 28 months. | |
| 24 | m | 740 | 25 | 29 | neg. | 51 | 78 | 7.7 | 0 | Iodinated contrast agent. | |
| 25 | f | 890 | 27 | 37 | neg. | 23 | 76 | 9.0 | 0 | Neg. re-screening at 5 weeks. | |
| 26 | m | 760 | 24 | 28 | neg. | 394 | 1004 | TT4 low | 2.5 | End of therapy at 33 months. | |
| 27 | f | 1210 | 29 | 33 | neg. | 13 | 25 | 10.9 | 0 | Iodinated contrast agent. | |
| 28 | m | 935 | 29 | 33 | neg. | 13 | 47 | 10.9 | 2.5 | End of therapy at 43 months. | |
| Transient hypothyroidism | 29 | m | 700 | 24 | 28 | neg. | 13 | 35 | 11.7 | 0 | Iodinated contrast agent. |
| 30 | m | 580 | 24 | 28 | neg. | 11 | 27 | 12.0 | 0 | ||
| 31 | f | 480 | 27 | 32 | neg. | 24 | 65 | 13.1 | 2.1 | Iodinated contrast agent. End of therapy at 43 months. | |
| 32 | f | 1095 | 29 | 37 | neg. | 18 | 51 | 13.1 | 2.5 | Identical twin of euthyroid co-twin. No re-screening at 32 weeks. End of therapy at 27 months. | |
| 33 | m | 410 | 25 | 27 | neg. | 45 | 44 | 14.2 | 0 | ||
| 34 | m | 990 | 30 | 34 | neg. | 28 | 22 | 14.2 | 0 | Identical twin of euthyroid co-twin. | |
| 35 | f | 620 | 24 | 28 | neg. | 26 | 97 | N/A | 0 | Iodinated contrast agent. | |
| 36 | m | 659 | 24 | 26 | neg. | 11 | 45 | N/A | 0 | ||
| 37 | m | 980 | 27 | 29 | neg. | 47 | N/A | N/A | 0 | ||
| Inconclusive | 38 | m | 1780 | 31 | 32 | pos. | 71 | N/A | 11.7 | 3.4 | Mostly extremely low TSH values under treatment, maternal autoimmune thyroiditis mentioned in medical report. |
| 39 | m | 570 | 24 | 27 | neg. | 52 | 336 | 5.1 | 0.9 | Iodinated contrast agent. | |
| 40 | m | 740 | 27 | 32 | neg. | 52 | >100 | 5.1 | 1.8 | ||
| 41 | f | 1190 | 29 | 32 | neg. | 15 | 63 | 9.0 | 2.3 | ||
| 42 | m | 540 | 24 | 47 | neg. | 52 | >100 | 9.0 | 2.1 | Late treatment due to fluctuations or thyroid function tests and presumed transience. | |
| 43 | f | 806 | 27 | 33 | neg. | 20 | 57 | 9.5 | 1.2 | Identical twin of euthyroid co-twin. Family history of hypothyroidism. | |
| 44 | f | 620 | 26 | 35 | neg. | 18 | 29 | 11.7 | 2.5 | Iodinated contrast agent. | |
| 45 | m | 850 | 31 | 33 | neg. | 32 | 81 | 14.5 | 2.7 | Iodinated contrast agent. | |
| 46 | f | 1138 | 31 | 40 | neg. | 24 | 24 | 19.4 | 2.0 | Identical twin of euthyroid co-twin. Re-screening neg. at 2 weeks, pos. at 8 weeks. | |
| Unknown | 47 | m | 740 | 25 | 29 | neg. | 162 | 323 | 2.8 | N/A | |
| 48 | f | 560 | 23 | 33 | neg. | 137 | 157 | 5.1 | N/A | Iodinated contrast agent. | |
| 49 | f | 720 | 25 | 33 | neg. | 60 | 128 | 7.7 | N/A | Iodinated contrast agent. | |
| 50 | m | 841 | 29 | 35 | neg. | 27 | 29 | 7.8 | N/A | ||
| 51 | m | 805 | 27 | 35 | neg. | 15 | 22 | 15.4 | N/A | ||
f = female, m = male, neg. = negative, pos. = positive, TT4 = Total Thyroxine, N/A = Not Available.