Table 1.
Clinical Data of the Family Positive for Inactivating Mutation in Phosphodiesterase Type 8B (H305P)
| |
|
Thyroid hormones |
|
|||
|---|---|---|---|---|---|---|
| Patient code | Family relation | TSH (normal range, 0.4–4 mIU/L) | FT4 (μg/dL) | T3 (ng/mL) | Microsomal antibodies (normal range, <35.0 IU/mL) | PDE8B genotype |
| CAR 559.03 | Proband | 5.45 mIU/L | 1.5 | 129 | NA | wt/H305P |
| CAR 559.01 | Father | 1.13 mIU/L | 1.3 | NA | NA | wt/H305P |
| CAR 559.02 | Mother | 2.3 mIU/L | 6.9a | NA | 510 IU/mL | wt/wt |
| CAR 559.04 | Sister | 0.59 mIU/L | 1.3 | 1.4 | NA | wt/H305P |
Value in bold: outside the normal range.
a
For CAR 559.02, the total T4 has been measured.
FT4, free thyroxine; PDE8B, phosphodiesterase (PDE) type 8B; T3, triiodothyronine; TSH, thyroid-stimulating hormone; N/A, non-available.