Table 1.
Characteristics of the study population
| ITT (n = 36) | MTP (n = 46) | Total (n = 82) | |||||||
|---|---|---|---|---|---|---|---|---|---|
| Patients with PWS | Male | Female | All | Male | Female | All | Male | Female | All |
| N | 19 | 17 | 36 | 27 | 19 | 46 | 46 | 36 | 82 |
| Nationality | |||||||||
| British | 5 | 5 | 10 | 0 | 0 | 0 | 5 | 5 | 10 |
| Dutch | 6 | 4 | 10 | 27 | 19 | 46 | 33 | 23 | 56 |
| French | 3 | 7 | 10 | 0 | 0 | 0 | 3 | 7 | 10 |
| Swedish | 5 | 1 | 6 | 0 | 0 | 0 | 5 | 1 | 6 |
| Age (years) | |||||||||
| Median | 25.0 | 24.0 | 24.9 | 28.0 | 22.5 | 25.3 | 25.9 | 23.5 | 25.1 |
| Range | 18.0–36.0 | 18.0–55.3 | 18.0–55.3 | 18.1–55.5 | 18.2–39.0 | 18.1–55.5 | 18.0–55.5 | 18.0–55.3 | 18.0–55.5 |
| BMI (kg/m2) | |||||||||
| Median | 28.3 | 32.0 | 30.3 | 27.4 | 31.5 | 28.4 | 28.2 | 31.7 | 29.1 |
| Range | 21.2–62.0 | 20.3–58.2 | 20.3–62.0 | 20.0–57.0 | 21.2–49.7 | 20.0–57.0 | 20.0–62.0 | 20.3–58.2 | 20.0–62.0 |
| Genotype | |||||||||
| mUPD | 2 | 5 | 7 | 10 | 8 | 18 | 12 | 13 | 25 |
| DEL | 9 | 9 | 18 | 16 | 10 | 26 | 25 | 19 | 44 |
| ICD | 1 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | 1 |
| mUPD or ICD | 1 | 2 | 3 | 0 | 0 | 0 | 1 | 2 | 3 |
| mDEL | 1 | 0 | 1 | 0 | 0 | 0 | 1 | 0 | 1 |
| Methylation-positive | 5 | 1 | 6 | 1 | 1 | 2 | 6 | 2 | 8 |
| GH i treatment during childhood | 4 | 6 | 10 | 11 | 13 | 24 | 15 | 19 | 34 |
| Current GH treatment | 3 | 1 | 4 | 8 | 11 | 19 | 11 | 12 | 23 |
Abbreviations: BMI, body mass index; DEL, paternal deletion; GH, growth hormone, ICD, imprinting center defect; ITT, insulin tolerance test; mDEL, SNORD116 microdeletion; MTP, multiple-dose metyrapone test; mUPD, uniparental maternal disomy; PWS, Prader–Willi syndrome.