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. 2025 Jul 3;40(33):e204. doi: 10.3346/jkms.2025.40.e204

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.