Table 4.
Biochemical Details of Patients With Homozygous GHR Pseudoexon (6ψ) Mutations
| Family | Patient | Basal GH (μg/L) | Peak GH (μg/L) | IGF1 (SDS) | IGFGT Basal/Peak (ng/mL) | IGFBP3 (SDS) |
|---|---|---|---|---|---|---|
| A | 1a | 11.0 | 10.0 | −2.5 | 23.0/24.0 | −6.0 |
| 2a | 6.0 | 14.3 | −2.5 | 21.0/26.0 | −8.9 | |
| 3a | 1.8 | 53.3 | −1.7 | 29.0/36.0 | −2.9 | |
| 4a | 17.5 | 90.0 | −2.0 | 20.0/20.0 | −3.4 | |
| 5a | 0.1 | 18.8 | −2.2 | ND | −1.72 | |
| 6 | 3.4 | 26.7 | NK | ND | ND | |
| B | 1a | 13.0 | >33.3 | −2.3 | 6.9/7.6 | −2.4 |
| C | 1a | 0.6 | NK | NK | NK | NK |
| D | 1a | 10.2 | 15.4 | −2.3 | 36.0/41.0 | −2.6 |
| 2a | 0.3 | 28.4 | −0.7 | 132.0/255.0a | −1.6 | |
| E | 1a | 2.5 | 27.0 | −1.0 | ND | −2.3 |
| 2a | 8.3 | 37.7 | −1.4 | ND | −2.3 | |
| F | 1 | 2.0 | 40.0 | −2.5 | 41.2/29.7 | −2.6 |
| G | 1 | 4.0 | >33.0 | −2.3 | 63.3/16.8 | ND |
| 2 | 16.9 | 33.3 | −2.5 | ND | ND | |
| H | 1 | 17.5 | 90.0 | −2.9 | 1.5/8.4 | −2.4 |
| 2 | 0.1 | 18.8 | −3.1 | ND | ND | |
| I | 1 | 3.4 | 26.7 | −2.1 | ND | ND |
| J | 1 | 19.3 | >40.0 | −6.8 | <25.0/<25.0 | ND |
| K | 1 | 0.6 | NK | −4.0 | <22.9/<22.9 | −2.4 |
[Reproduced with permission from Chatterjee S, Shapiro L, Rose SJ, et al. Phenotypic spectrum and responses to recombinant human IGF1 (rhIGF1) therapy in patients with homozygous intronic pseudoexon growth hormone receptor mutation. Eur J Endocrinol 2018;178:481–489.]
Abbreviations: ND, not done; NK, not known.
a
Positive response during IGFGT.