Table 5. Clinical data of GHD.
| Cases | 1 | 2 | 3 | 4 | 5 | 6 | |
|---|---|---|---|---|---|---|---|
| Disease | CHARGE syndrome | CHARGE syndrome | AR-CGD | GSD | STAT3 LOF | Osteopetrosis | |
| IUIS category | 2 | 2 | 5 | 5 | 2 | 9 | |
| Sex | Male | Female | Female | Male | Male | Female | |
| Current age | 11 yr 2 mon | 11 yr 5 mon | 13 yr 8 mon | 11 yr 4 mon | 20 yr 1 mon | 6 yr 1 mon | |
| Age at HCT | 3 yr 3 mon | 10 mon | |||||
| Diagnosis age of IEI | 2 yr 9 mon | 3 yr 1 mon | 10 mon | 9 mon | 5 yr 1 mon | 7 mon | |
| Age at the diagnosis of GHD | 8 yr 1 mon | 7 yr 8 mon | 4 yr 8 mon | 4 yr 5 mon | 9 yr | 4 yr 2 mon | |
| Parents' height | |||||||
| Father/mother, cm | NA/NA | 174/167 | NA/NA | 175/167 | 177/153 | NA/NA | |
| Height at diagnosis, SD | −1.4 | −2.6 | −2.0 | −2.5 | −1.6 | −1.8 | |
| Body weight at diagnosis, SD | −1.5 | −1.3 | 0.5 | −0.4 | −1.87 | −1.3 | |
| Laboratory data at diagnosis | |||||||
| IGF-1, nmol/L | 41.7 (50.3–265.9)a | 135.6 (102.3–460.1)a | 13.9 (29.9–359.4)a | 15.8 (8–250)a | 86.6 (9.7–30.1)a | 67.7 (29.9–359.4)a | |
| Insulin, µU/mL | 12.3 | 14.15 | NT | 2.1 | NT | NT | |
| Peak GH production at the provocative tests | Arginine, 2.05; L-dopa, 6.23 | Glucagon, 5.36; L-dopa, 2.43 | Glucagon, 6.17; L-dopa, 8.93 | Glucagon, 5.83; L-dopa, 1.70 | Glucagon, 2.68; L-dopa, 4.36 | Arginine, 1.21; L-dopa, 1.55 | |
| Treatment | GH | GH | Untreated | GH | GH | GH | |
| Age at the start | 8 yr 4 mon | 7 yr 8 mon | 4 yr5 mon | 9 yr 1 mon | 4 yr 2 mon | ||
| Bone age at the start | 7 yr | 6 yr | 3 yr 9 mon | 4 yr 10 mon | 3 yr | ||
| Clinical course | −0.7 SD at 11 yr 2 mon | −1.1 SD at 11 yr 5 mon | Discontinued at 5 yr 1 mon (−2.0 SD) due to poor compliance | Discontinued at 15 yr 11 mon (−0.1 SD) | −1.1 SD at 6 yr 1 mon | ||
| Response | Good | Good | Good | Good | Good | ||
AR-CGD = autosomal recessive chronic granulomatous disease, GSD = glycogen storage disease, STAT3 LOF= signal transducer and activator of transcription 3 loss-of-function, IUIS = the International Union of Immunological Societies, HCT = hematopoietic cell transplantation, IEI = inborn errors of immunity, GHD = growth hormone deficiency, NA = not applicable, SD = standard deviation, IGF-1 = insulin-like growth factor-1, NT = not tested, GH = growth hormone.
aNormal reference range may vary depending on the assay and age-specific standards.