Table 1.
Characteristics of Cohort Comparing Mutation-Positive, Mutation-Negative, and Untested Cases
| Mutation positive | Mutation negative | Not testeda | p-Value | ||
|---|---|---|---|---|---|
| DUOX2 (n = 20) | DUOXA2 (n = 6) | (n = 26) | (n = 31) | Mutation positive versus mutation negative | |
| Ethnicity | |||||
| 1 White | 2 | 1 | 6 | 5 | 0.3 |
| 2 Mixed | 1 | 1 | 2 | 2 | 1 |
| 3 Asian/Asian British | 11 | 4 | 13 | 19 | 0.6 |
| 4 Black/Black British | 1 | 0 | 3 | 2 | 0.3 |
| 5 Other | 5 | 0 | 2 | 3 | 0.2 |
| Consanguineous parents | 3 | 0 | 5 | 5 (4 not recorded) | 0.7 |
| M:F | 8:12 | 4:2 | 15:11 | 14:17 | 0.5 |
| Mean 1st bloodspot, mIU/L TSH (range) | 10.9 (6.2–18.8) | 12.2 (7.9–14.6) | 11.7 (6.3–18.3) | 11.3 (6.8–19.5) | 0.7 |
| Mean venous TSH, mIU/L (range) | 66.1 (29.8–150) | 77.8 (29.3–125) | 42.5 (25.0–100) | 54.7 (25.9–224) | 0.01 |
| Mean venous fT4, pmol/L (range) | 9.5 (<3.9–15.8) | 8.5 (5.5–11.8) | 11.1 (<3.9–15.6) | 10.1 (<3.9–17.3) | 0.2 |
| Mean birth weight (g) | 2997 | 3048 | 3117 | 2996 | 0.7 |
| Confirmed transient CH | 8 (40%) | 2 (33%) | 10 (38%) | N/A | 1 |
Bold indicates p < 0.05.
a
Not tested due to practicalities of obtaining consent or DNA in study period or lost to follow-up (one declined). Confirmed transient CH: cases who had ceased LT4 treatment by the end of the study. Bloodspot TSH reference range <6 mIU/L. Venous fT4 reference range 12.5–24.6 pmol/L. Comparisons of distributions between groups were performed with a Mann–Whitney U-test, and comparisons of proportions were performed using the chi-square test/Fisher's exact test.
M, male; F, female; TSH, thyrotropin; fT4, free thyroxine; CH, congenital hypothyroidism; LT4, levothyroxine.