Table 5:
Effect of Growth Hormone (GH) Treatment on PWS Molecular Classes
| GH treatment (N=282) | No GH treatment (N=62) | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|
| PHYSICAL CHARACTERISTICS | Deletion (M=89, F=92) |
UPD (M=41, F=60) |
p-value | Deletion (M=10, F=26) |
UPD (M=12, F=14) |
p-value | ||||
| N=179 | Mean (SD) | N=103 | Mean (SD) | N=38 | Mean (SD) | N=24 | Mean (SD) | |||
| GROWTH PARAMETERS: | ||||||||||
| Height percentile for age and gender | 139/282 | 35 (30) | 78 | 42 (34) | 0.228 | 38/62 | 40 (35) | 24 | 21 (26) | 0.124 |
| Weight percentile for age and gender | 139/282 | 62 (35) | 78 | 58 (36) | 0.471 | 38/62 | 61 (36) | 24 | 30 (34) | 0.021 |
| Head circumference percentile for age and gender | 130/282 | 44 (31) | 75 | 51 (30) | 0.197 | 38/62 | 44 (29) | 24 | 42 (31) | 0.827 |
| BMI percentile for age and gender | 139/282 | 83 (38) | 78 | 82 (37) | 0.895 | 38 | 86 (48) | 24 | 83 (42) | 0.748 |
| HEAD: | ||||||||||
| Prominent occiput | 31 | 17 % | 19 | 18% | 0.547 | 7 | 18% | 7 | 29% | 0.382 |
| Round face | 56 | 31% | 22 | 21% | 0.083 | 13 | 34% | 10 | 41% | 0.657 |
| Flat occiput | 49 | 27% | 12 | 12% | 0.002 | 10 | 26% | 6 | 25% | 0.837 |
| Bitemporal narrowing | 116 | 65% | 61 | 59% | 0.143 | 34 | 89% | 21 | 87% | 0.882 |
| Craniosynostosis | 2 | 1% | 0 | 0.285 | 2 | 5% | 1 | 4% | 0.914 | |
| HAIR: | ||||||||||
| Hypopigmented | 69 | 38% | 16 | 16% | <0.001 | 17 | 45% | 3 | 13% | 0.030 |
| Low anterior hair line | 41 | 23% | 15 | 20% | 0.233 | 16 | 42% | 4 | 16% | 0.046 |
| Low posterior hair line | 64 | 36% | 35 | 47% | 0.638 | 18 | 47% | 8 | 33% | 0.250 |
| EYES: | ||||||||||
| Inter-canthal distance percentile for age and gender | 129 | 54 (33) | 70 | 57 (31) | 0.585 | 38 | 46 (26) | 24 | 63 (30) | 0.909 |
| Inter-pupillary distance percentile for age and gender | 139 | 57 (35) | 78 | 56 (37) | 0.923 | 38 | 40 (31) | 24 | 32 (38) | 0.626 |
| Outer-canthal distance percentile for age and gender | 139 | 58 (38) | 77 | 50 (38) | 0.345 | 38 | 40 (31) | 24 | 43 (38) | 0.864 |
| Palpebral fissure length percentile for age and gender | 139 | 55 (37) | 78 | 63 (37) | 0.339 | 38 | 40 (36) | 24 | 59 (40) | 0.279 |
| Almond-shaped | 99 | 55% | 53 | 51% | 0.245 | 30 | 70% | 12 | 50% | 0.023 |
| Strabismus | 63 | 35% | 54 | 52% | 0.011 | 21 | 55% | 13 | 54% | 0.461 |
| Esotropia | 64 | 36% | 41 | 40% | 0.734 | 17 | 45% | 8 | 33% | 0.157 |
| Exotropia | 6 | 3% | 8 | 7% | 0.187 | 1 | 2% | 2 | 8% | 0.454 |
| Ptosis | 19 | 12% | 12 | 10% | 0.872 | 6 | 16% | 5 | 21% | 0.666 |
| Hypotelorism | 8 | 4% | 12 | 16% | 0.276 | 6 | 16% | 3 | 13% | 0.200 |
| Hypertelorism | 8 | 4% | 2 | 3% | 0.330 | 3 | 7% | 2 | 8% | 0.209 |
| Telecanthus | 9 | 5% | 7 | 9% | 0.968 | 4 | 10% | 2 | 8% | 0.656 |
| Upslanting palpebral fissures | 43 | 24% | 18 | 18% | 0.345 | 14 | 36% | 5 | 21% | 0.165 |
| Downslanting palpebral fissures | 9 | 5% | 14 | 14% | 0.006 | 4 | 10% | 2 | 8% | 0.383 |
| NOSE: | ||||||||||
| Broad nasal bridge | 15 | 8% | 11 | 15% | 0.733 | 0 | 0% | 4 | 16% | 0.037 |
| Narrow nasal bridge | 31 | 17% | 13 | 17% | 0.580 | 2 | 5% | 5 | 21% | 0.344 |
| MOUTH: | ||||||||||
| Flat philtrum | 43 | 24% | 25 | 33% | 0.974 | 7 | 18% | 6 | 25% | 0.823 |
| Thin upper lip | 91 | 51% | 50 | 66% | 0.866 | 28 | 73% | 11 | 46% | 0.098 |
| Full upper lip | 20 | 11% | 13 | 17% | 0.918 | 4 | 10% | 1 | 4% | 0.311 |
| Wide-spaced dentition | 57 | 32% | 23 | 31% | 0.259 | 14 | 37% | 6 | 25% | 0.061 |
| Dental caries | 34 | 19% | 17 | 23% | 0.639 | 7 | 18% | 3 | 13% | 0.007 |
| Enamel hypoplasia | 68 | 38% | 36 | 48% | 0.922 | 16 | 42% | 6 | 25% | 0.061 |
| EARS: | ||||||||||
| Ear length percentile for age and gender | 139 | 48 (32) | 78 | 61 (25) | 0.074 | 38 | 51 (26) | 24 | 41 (24) | 0.376 |
| Low set ears | 22 | 12% | 18 | 19% | 0.252 | 7 | 18% | 1 | 4% | 0.246 |
| Posterior angulated ears | 4 | 3% | 12 | 14% | 0.002 | 3 | 7% | 1 | 4% | 0.731 |
| CHEST: | ||||||||||
| Pectus excavatum | 30 | 17% | 22 | 21% | 0.521 | 0 | 0 | 0 | 0 | 0.471 |
| Pectus carinatum | 4 | 2% | 2 | 2% | 0.321 | 2 | 5% | 3 | 12% | 0.572 |
| ABDOMEN: | ||||||||||
| Abdominal striae | 69 | 39% | 22 | 21% | 0.006 | 14 | 37% | 10 | 41% | 0.437 |
| SPINE: | ||||||||||
| Scoliosis | 65 | 47% | 29 | 37% | 0.011 | 31 | 82% | 21 | 88% | 0.039 |
| Kyphosis | 25 | 18% | 13 | 17% | 0.509 | 13 | 34% | 4 | 16% | 0.001 |
|
GENITALIA:
(N=137 males; N=152 females) | ||||||||||
| Bilateral cryptorchidism | 65 | 73% | 17 | 41% | 0.635 | 9 | 90% | 11 | 92% | 0.074 |
| Hypoplastic scrotum | 39 | 44% | 22 | 53% | 0.452 | 7 | 70% | 3 | 25% | 0.128 |
| Poor scrotal rugae | 27 | 30% | 15 | 37% | 0.747 | 5 | 50% | 3 | 25% | 0.749 |
| Hypoplastic labia minora | 45 | 49% | 34 | 85% | 0.513 | 8 | 31% | 3 | 21% | 0.416 |
| Hypoplastic clitoris | 39 | 42% | 25 | 62% | 0.721 | 9 | 35% | 2 | 14% | 0.218 |