Table 1.
Clinical and Genetic Characteristics of Examined Family Members (Abnormal values are in bold number)
| Family Member |
Mutation Carrier |
Gender | Age (years) |
Age at Diagnosis (years) |
TSH at diagnosis (mU/L)* |
FT4 at diagnosis (ng/dl)** |
Thyroid imaging | Current height in cm (SD) |
Current L-T4 Dose (µg/week) |
Comorbidity |
|---|---|---|---|---|---|---|---|---|---|---|
| II-3 | yes | M | 71 | NA | NA | NA | Normal position, texture and size a |
171.5c (−0.8) |
700 | - |
| II-4 | no | F | 69 | - | - | - | - | NA | - | - |
| III-1 | yes | M | 48 | 48 | 223 | <0.3 | NA | 166c (−1.6) |
Unknown dose |
CKD, PD |
| III-2 | no | F | 48 | - | - | - | - | 152c (−1.5) |
- | - |
| III-4 | yes | F | 44 | 14 | NA | NA | NA | 162c (−0.05) |
900 | - |
| III-5 | yes | M | 39 | 30 | 19.6 | 0.86 | NA | 169.8c (−0.8) |
450 | - |
| III-6 | no | F | 40 | - | - | - | - | 167.5c (0.65) |
- | - |
| III-7 | yes | M | 30 | 30 | 5.8 | - | NA | 178c (0.5) |
- | - |
| III-8 | no | F | 30 | - | - | - | - | 152c (−1.5) |
- | - |
| IV-1 | no | M | 24 | - | - | - | - | 171c (−0.7) |
- | - |
| IV-2 | yes | M | 17 | 6 | 17.9 | 1.09 | NA | 167.2 (−1.15) |
850 | - |
| IV-3 | yes | M | 14 | NS | 59 | 0.66 | NA | 147 (−1.96) |
900 | ADHD IGHD |
| IV-4 | yes | F | 11 | NS | 442 | 0.53 | Normal position, normal texture a |
135.3 (−1.31) |
700 | DD |
| IV-5 | no | F | 9 | - | - | - | - | 135 (0.097) |
- | ADHD |
| IV-6 | yes | M | 17 | NS | 20.9 | 0.92 | Hypoechoic, normal position a |
NA | - | LD |
| IV-7 | yes | M | 13 | 3 | 172 | 0.76 | Normal thyroid scan b | 154 (−0.55) |
1150 | ADHD |
| IV-8 | No | F | 12 | - | - | - | - | 153 (0.41) |
- | ADHD |
| IV-9 | yes | F | 8 | NS | 120 | 0.92 | Thyroid hemiagenesis a | 120 (−2.08) |
455 | - |
| IV-10 | yes | F | 7 | NS | 150 | 0.60 | Normal thyroid scan b | 115 (−1.44) |
525 | - |
| IV-11 | yes | M | 3 | NS | 64 | NA | Normal thyroid scan b | 86 (−1.65) |
unknown dose |
DD |
*
Normal range of TSH: adult 0.4–3.6 mU/L, at birth <20 mU/L
**
Normal range of FT4: adult 0.83–2 ng/dl, at birth 0.93–1.48 mg/dl
a
ultrasound thyroid,
b
technetium scan,
c
final height
Abbreviations: NA; not available, NS; newborn screening, L-T4; levothyroxine, CKD; chronic kidney disease, IGHD; idiopathic growth hormone deficiency, DD; developmental delay, ADHD: attention deficit hyperactive disorder, LD; learning disorder, SD; standard deviation