Clinical characteristics of patients with solved or probably solved cases, according to the mutated gene
| Solved or probably solved cases . | TG variants . | TPO variants . | DUOX2 variants . | TSHR variants . | PAX8 variants . | NKX2-1 variants . |
|---|---|---|---|---|---|---|
| Number of patients | 20 | 15 | 2 | 3 | 5 | 1 |
| Median TSH on screening (mIU/L; min-max) | 134 (42-210) (n = 14) | 113 (56-417) (n = 8) | 15 | 101 and 25 | 35, 38, and 186 | |
| Median TSH at diagnosis (mIU/L; min-max) | 150 (23-792) (n = 17) | 213 (100-840) (n = 8) | 14 and 100 | 17 and 25 | 38 (9-100) (n = 5) | |
| Median FT4 at diagnosis (pmol/L; min-max) | 5.7 (2-9.8) (n = 15) | 5.2 (1.8-8.9) (n = 9) | 8.9 and 16.3 | 18.2 et 20.2 | 12.35 (7-15) (n = 4) | |
| Goitre (clinical and/or radiological) | 70% | 80% | 50% | |||
| Other clinical signs | 30% | 13% | ||||
| Serum thyroglobulin | n = 14 | n = 5 | n = 2 | n = 2 | n = 1 | |
| Undetectable | 64% | 0 | ||||
| Low | 29% | |||||
| Normal | 7% | 2 | 1 | 2 | 1 | |
| High | 3 | 1 | ||||
| Thyroid scintigraphy | n = 16 | n = 10 | n = 2 | n = 1 | n = 4 | n = 1 |
| High level of uptakea | 94% | 100% | 2 | 1 | 3 | 1 |
| Low level of uptake or absenta | 6% | 1 | ||||
| Perchlorate discharge test | n = 6 | n = 7 | n = 1 | n = 1 | ||
| Normal | 2 | 3 | 1 | 1 | ||
| Partial iodide organification defect | 4 | 2 | ||||
| Total iodide organification defect | 2 | |||||
| Median treatment posology at last follow-up (μg/kg/day; min-max) | 3.2 (1.4-5.7) (n = 16) | 3 (1.4-5.4) (n = 10) | 1.5 | 3.6, 2.5, and 0.8 | 2.5, 3.5, and 5.8 | 1.6 |
| Median age at last follow-up (years; min-max) | 8.6 (1.4-17.4) (n = 16) | 14.5 (0.3-37) (n = 10) | 7.3 | 23.6, 8.2, and 13.5 | 5, 5, and 7 | 4.4 |
| Reevaluation of the thyroid axis | n = 2 | n = 2 | n = 2 | n = 1 | n = 2 | |
| Transient CH | 0 | 1 | 1 | 1 | 0 |
| Solved or probably solved cases . | TG variants . | TPO variants . | DUOX2 variants . | TSHR variants . | PAX8 variants . | NKX2-1 variants . |
|---|---|---|---|---|---|---|
| Number of patients | 20 | 15 | 2 | 3 | 5 | 1 |
| Median TSH on screening (mIU/L; min-max) | 134 (42-210) (n = 14) | 113 (56-417) (n = 8) | 15 | 101 and 25 | 35, 38, and 186 | |
| Median TSH at diagnosis (mIU/L; min-max) | 150 (23-792) (n = 17) | 213 (100-840) (n = 8) | 14 and 100 | 17 and 25 | 38 (9-100) (n = 5) | |
| Median FT4 at diagnosis (pmol/L; min-max) | 5.7 (2-9.8) (n = 15) | 5.2 (1.8-8.9) (n = 9) | 8.9 and 16.3 | 18.2 et 20.2 | 12.35 (7-15) (n = 4) | |
| Goitre (clinical and/or radiological) | 70% | 80% | 50% | |||
| Other clinical signs | 30% | 13% | ||||
| Serum thyroglobulin | n = 14 | n = 5 | n = 2 | n = 2 | n = 1 | |
| Undetectable | 64% | 0 | ||||
| Low | 29% | |||||
| Normal | 7% | 2 | 1 | 2 | 1 | |
| High | 3 | 1 | ||||
| Thyroid scintigraphy | n = 16 | n = 10 | n = 2 | n = 1 | n = 4 | n = 1 |
| High level of uptakea | 94% | 100% | 2 | 1 | 3 | 1 |
| Low level of uptake or absenta | 6% | 1 | ||||
| Perchlorate discharge test | n = 6 | n = 7 | n = 1 | n = 1 | ||
| Normal | 2 | 3 | 1 | 1 | ||
| Partial iodide organification defect | 4 | 2 | ||||
| Total iodide organification defect | 2 | |||||
| Median treatment posology at last follow-up (μg/kg/day; min-max) | 3.2 (1.4-5.7) (n = 16) | 3 (1.4-5.4) (n = 10) | 1.5 | 3.6, 2.5, and 0.8 | 2.5, 3.5, and 5.8 | 1.6 |
| Median age at last follow-up (years; min-max) | 8.6 (1.4-17.4) (n = 16) | 14.5 (0.3-37) (n = 10) | 7.3 | 23.6, 8.2, and 13.5 | 5, 5, and 7 | 4.4 |
| Reevaluation of the thyroid axis | n = 2 | n = 2 | n = 2 | n = 1 | n = 2 | |
| Transient CH | 0 | 1 | 1 | 1 | 0 |
Abbreviations: CH, congenital hypothyroidism; FT4, free T4.
aAccording to normal laboratory measure.
Clinical characteristics of patients with solved or probably solved cases, according to the mutated gene
| Solved or probably solved cases . | TG variants . | TPO variants . | DUOX2 variants . | TSHR variants . | PAX8 variants . | NKX2-1 variants . |
|---|---|---|---|---|---|---|
| Number of patients | 20 | 15 | 2 | 3 | 5 | 1 |
| Median TSH on screening (mIU/L; min-max) | 134 (42-210) (n = 14) | 113 (56-417) (n = 8) | 15 | 101 and 25 | 35, 38, and 186 | |
| Median TSH at diagnosis (mIU/L; min-max) | 150 (23-792) (n = 17) | 213 (100-840) (n = 8) | 14 and 100 | 17 and 25 | 38 (9-100) (n = 5) | |
| Median FT4 at diagnosis (pmol/L; min-max) | 5.7 (2-9.8) (n = 15) | 5.2 (1.8-8.9) (n = 9) | 8.9 and 16.3 | 18.2 et 20.2 | 12.35 (7-15) (n = 4) | |
| Goitre (clinical and/or radiological) | 70% | 80% | 50% | |||
| Other clinical signs | 30% | 13% | ||||
| Serum thyroglobulin | n = 14 | n = 5 | n = 2 | n = 2 | n = 1 | |
| Undetectable | 64% | 0 | ||||
| Low | 29% | |||||
| Normal | 7% | 2 | 1 | 2 | 1 | |
| High | 3 | 1 | ||||
| Thyroid scintigraphy | n = 16 | n = 10 | n = 2 | n = 1 | n = 4 | n = 1 |
| High level of uptakea | 94% | 100% | 2 | 1 | 3 | 1 |
| Low level of uptake or absenta | 6% | 1 | ||||
| Perchlorate discharge test | n = 6 | n = 7 | n = 1 | n = 1 | ||
| Normal | 2 | 3 | 1 | 1 | ||
| Partial iodide organification defect | 4 | 2 | ||||
| Total iodide organification defect | 2 | |||||
| Median treatment posology at last follow-up (μg/kg/day; min-max) | 3.2 (1.4-5.7) (n = 16) | 3 (1.4-5.4) (n = 10) | 1.5 | 3.6, 2.5, and 0.8 | 2.5, 3.5, and 5.8 | 1.6 |
| Median age at last follow-up (years; min-max) | 8.6 (1.4-17.4) (n = 16) | 14.5 (0.3-37) (n = 10) | 7.3 | 23.6, 8.2, and 13.5 | 5, 5, and 7 | 4.4 |
| Reevaluation of the thyroid axis | n = 2 | n = 2 | n = 2 | n = 1 | n = 2 | |
| Transient CH | 0 | 1 | 1 | 1 | 0 |
| Solved or probably solved cases . | TG variants . | TPO variants . | DUOX2 variants . | TSHR variants . | PAX8 variants . | NKX2-1 variants . |
|---|---|---|---|---|---|---|
| Number of patients | 20 | 15 | 2 | 3 | 5 | 1 |
| Median TSH on screening (mIU/L; min-max) | 134 (42-210) (n = 14) | 113 (56-417) (n = 8) | 15 | 101 and 25 | 35, 38, and 186 | |
| Median TSH at diagnosis (mIU/L; min-max) | 150 (23-792) (n = 17) | 213 (100-840) (n = 8) | 14 and 100 | 17 and 25 | 38 (9-100) (n = 5) | |
| Median FT4 at diagnosis (pmol/L; min-max) | 5.7 (2-9.8) (n = 15) | 5.2 (1.8-8.9) (n = 9) | 8.9 and 16.3 | 18.2 et 20.2 | 12.35 (7-15) (n = 4) | |
| Goitre (clinical and/or radiological) | 70% | 80% | 50% | |||
| Other clinical signs | 30% | 13% | ||||
| Serum thyroglobulin | n = 14 | n = 5 | n = 2 | n = 2 | n = 1 | |
| Undetectable | 64% | 0 | ||||
| Low | 29% | |||||
| Normal | 7% | 2 | 1 | 2 | 1 | |
| High | 3 | 1 | ||||
| Thyroid scintigraphy | n = 16 | n = 10 | n = 2 | n = 1 | n = 4 | n = 1 |
| High level of uptakea | 94% | 100% | 2 | 1 | 3 | 1 |
| Low level of uptake or absenta | 6% | 1 | ||||
| Perchlorate discharge test | n = 6 | n = 7 | n = 1 | n = 1 | ||
| Normal | 2 | 3 | 1 | 1 | ||
| Partial iodide organification defect | 4 | 2 | ||||
| Total iodide organification defect | 2 | |||||
| Median treatment posology at last follow-up (μg/kg/day; min-max) | 3.2 (1.4-5.7) (n = 16) | 3 (1.4-5.4) (n = 10) | 1.5 | 3.6, 2.5, and 0.8 | 2.5, 3.5, and 5.8 | 1.6 |
| Median age at last follow-up (years; min-max) | 8.6 (1.4-17.4) (n = 16) | 14.5 (0.3-37) (n = 10) | 7.3 | 23.6, 8.2, and 13.5 | 5, 5, and 7 | 4.4 |
| Reevaluation of the thyroid axis | n = 2 | n = 2 | n = 2 | n = 1 | n = 2 | |
| Transient CH | 0 | 1 | 1 | 1 | 0 |
Abbreviations: CH, congenital hypothyroidism; FT4, free T4.
aAccording to normal laboratory measure.
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