Growth hormone therapy in achondroplasia.
Achondroplasia is one of the most common causes of severe rhizomelic dwarfism. We have previously reported the growth-promoting effect of growth hormone (GH) in this disorder. In this expanded clinical study, dose dependency and the long-term effect of GH were also investigated. Prepubertal children with achondroplasia (82 males and 63 females) were randomly divided into 2 groups. Patients were treated with 0.5 IU/kg per week or 1.0 IU/kg per week subcutaneous recombinant human GH. Of 75 patients, the mutational analysis of fibroblast growth factor receptor-3 revealed that G1138A was detected in 70 and G1138C was found in 2. GH increased growth rate and height z score in a dose-dependent manner. GH also increased serum insulin-like growth factor (IGF)-I, IGF-binding protein-3 and osteocalcin. No adverse effects were observed in either group. We conclude that GH therapy is a useful method for improvement of severe growth retardation of achondroplasia.
Seino
Y
Y
Department of Pediatrics, Okayama University Medical School, Okayama, Japan. yoseino@hospital.okayama-u.ac.jp
Yamanaka
Y
Y
Shinohara
M
M
Ikegami
S
S
Koike
M
M
Miyazawa
M
M
Inoue
M
M
Moriwake
T
T
Tanaka
H
H
D000130:Achondroplasia / Q000188:drug therapy* / Q000235:genetics / Q000473:pathology; D001827:Body Height / Q000187:drug effects; D001846:Bone Development / Q000187:drug effects; D002454:Cell Differentiation / Q000187:drug effects; D002648:Child; D002675:Child, Preschool; D004247:DNA / Q000235:genetics; D005260:Female; D013006:Growth Hormone / Q000627:therapeutic use*; D006801:Humans; D018972:Insulin-Like Growth Factor Binding Protein 3 / Q000378:metabolism; D007334:Insulin-Like Growth Factor I / Q000378:metabolism; D008297:Male; D009154:Mutation / Q000235:genetics / Q000502:physiology; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics
D018972:Insulin-Like Growth Factor Binding Protein 3; D017468:Receptors, Fibroblast Growth Factor; D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone; D004247:DNA; C496365:FGFR3 protein, human; D011505:Protein-Tyrosine Kinases; D051498:Receptor, Fibroblast Growth Factor, Type 3