Table 1.
Thyroid function tests in individuals with homozygous DNAJC3 mutation.
| Test | Present Study | Bublitz et al. (25) | Synofzik et al. (22) | Ozon et al. (23) | Lytrivi et al. (24) | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Patient a | Patient b | Patient a | Patient a | Patient b | Patient c | Patient d | Patient a | Patient b | Patient a | Patient b | |
| TSH | 27.8 (0.5–5.0) | 28.2 (0.5–5.0) | 4.9 (0.5–5.0) | 2.93 (0.5–5.0) | 20.9 (0.5–5.0) | Transient elevation | Transient elevation | 22.0 (0.45–4.20) | 11.2 (0.45–4.20) | Elevated | High |
| FT4 | 6.7 (9.0–19.0) | 12.0 (9.0–19.0) | 14.2 (11.6–20.6) | 10.95 (11.6–20.6) | 9.65 (11.6–20.6) | – | – | 10.5 (12.0–22.0) | 11.1 (12.0–22.0) | Normal | Low |
| Thyroid function tests after treatment initiation | |||||||||||
| TSH | 90.7 (0.5–5.0) | 17.1 (0.5–5.0) | – | – | – | – | – | 0.012 (0.45–4.20) | 3.9 (0.45–4.20) | – | – |
| FT4 | 6.4 (9.0–19.0) | 10.8 (9.0–19.0) | – | – | – | – | – | 15.8 (12.0–22.0) | 11.2 (12.0–22.0) | – | – |
| TSH | 1.07 (0.5–5.0) | 5.7 (0.5–5.0) | – | – | – | – | – | – | – | – | – |
| FT4 | 12.1 (9.0–19.0) | 10.3 (9.0–19.0) | – | – | – | – | – | – | – | – | – |
TSH, thyroid stimulating hormone, values reported in mIU/L (normal range: 0.35–4.94); FT4, free thyroxine, values reported in pmol/L (normal range: 9.00–19.00); -, not available.