Table 1.
Adult-onset Pompe disease patient demographics. The age at thyroid function tests correlates to the age at diagnosis of hypothyroidism for the hypothyroid subjects.
| Patient demographics | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Subject number | Family number | Sex (M/F) | Age at Pompe diagnosis (years) | GAA genotype | Age at thyroid function testing (years)a | TSH (mU/L) | Free T4 (ng/dL) (normal 0.76–1.46 ng/dL) | Thyroid treatment | Dose of medication |
| 1 | 1 | M | 34.1 | c.-32-13T > G, c.525delT | 52.8 | 1.98 | 1.61 | N/A | N/A |
| 2 | 2 | M | 15.0 | c.1754G > A, c.2560C > T | 16.9 | 4.74 | 1.34 | N/A | N/A |
| 3 | 3 | F | 46.6 | c.-32-13T > G, c.2481 + 102_2646-31del | 51.1 | 2.04 | 1.16 | N/A | N/A |
| 4 | 4 | M | 65.7 | c.692 + 5G > T, c.1076-22T > G | 72.4 | 4.12 | 0.93 | N/A | N/A |
| 5 | 4 | M | 57.0 | c.692 + 5G > T, c.1076-22T > G | 57.0 | 4.46 | 1.28 | N/A | N/A |
| 6 | 4 | M | 59.5 | c.692 + 5G > T, c.1076-22T > G | 56.7 | 8.21 | 1.08 | Levothyroxine | 88 mcg daily |
| 7 | 5 | F | 31.3 | IVS1-S3T > G, c.1128_1129delGGinsC | Unknown | Not available | Not available | Levothyroxine | 137 mcg daily |
| 8 | 6 | F | 52.0 | c.1478 > T, c.525delT | 53.0 | 10.20 | 0.79 | Levothyroxine | 75 mcg daily |
| 9 | 6 | F | 50.9 | c.1478 > T, c.525delT | 49.8 | 6.80 | Not available | Levothyroxine | 75 mcg daily |
| 10 | 7 | F | 35.5 | c.-45T > G. 538 bp deletion c2481 + 102 - c2646 + 36 | 23.1 | Not available | Not available | Levothyroxine | 125 mcg daily |
a
The age at thyroid function testing is also the age of diagnosis of hypothyroidism for the hypothyroid patients.