. 2021 Jan 29;10(3):R125–R138. doi: 10.1530/EC-20-0585
This work is licensed under a Table 1.
Summary of phenotypic and biochemical features of defects causing GH insensitivity originally labelled as ISS or SGAa.
| Genetic defect | Gene defect | |||||||
|---|---|---|---|---|---|---|---|---|
| GHR heterozygous | GHR pseudo-exon, homozygous | STAT5B heterozygous | IGFI heterozygous | IGF2 heterozygous (paternal) | IGFALS homozygous or heterozygous | PAPPA2 homozygous | IGF1R heterozygous | |
| Facial dysmorphism | − | Mid-face hypoplasia +/− | Mid-face hypoplasia +/− | Micro-gnathia | Relative macrocephaly | − | Long thin nose, small chin | − |
| Microcephaly | − | − | − | +/− | +/− | +/− | +/− | +/− |
| Feeding problems | − | − | − | + | + | − | − | + |
| Intellectual delay | − | − | − | − | +/− | − | − | +/− |
| Pubertal delay | − | − | +/− | − | +/− | + | − | − |
| Immune deficiency | − | − | + | − | − | − | − | − |
| Hypoglycaemia | − | + | −/+ | − | n/r | − | − | − |
| Hyper-insulinaemia | − | − | − | +/− | n/r | + | + | − |
| IGF-1 | ↓ | n/↓ | ↓ | n/↓ | n/↑ | ↓ | ↑ | n/↑ |
| IGFBP-3 | ↓ | n/↓ | ↓ | n | n/↑ | ↓ | ↑ | n/r |
| ALS | n/↓ | n/↓ | +/− | n | n/r | ↓ | ↑ | n/r |
| GH | ↑ | n/↑ | ↑ | n/↑ | n/↑ | ↑ | ↑ | n/↑ |
| GHBP deficiency | +/− | − | − | − | − | − | − | n/r |
aThis table presents genetic variants presenting with mild or moderate short stature; it does not contain characteristics of homozygous defects of GHR, STAT5B and IGF-I;
+, positive; −, negative; +/−, predominantly positive; −/+, predominantly negative; ↑, increased; ↓, decreased.
ALS, acid labile subunit; GHBP, growth hormone binding protein; IGFBP-3, IGF binding protein-3; n, normal; n/r, not reported.