title: Effects of growth hormone (GH) and insulin-like growth factor-I therapy in patients with gene defects in the GH axis.
abstract: We report on four patients (3 F) who were diagnosed as having either a 6.7 kb GH1 gene deletion, a GH1 signalling peptide mutation, or a GH receptor mutation, with particular regard to treatment modalities (GH, rhIGF-I) and final height. Patients with GH1 gene defects developed anti-GH antibodies (GH-Ab) following GH treatment. Surprisingly, growth response to GH was unrestricted in one girl, who reached a final height within her target height range, whereas her cousin with the identical genetic defect responded far less favourably. Variability in the growth inhibiting potency of GH-Ab may therefore depend on genetic disposition, specific epitopes, or induction of immunological tolerance. Growth response during rhIGF-I treatment carried out in three of the patients was moderate, but pubertal development and bone age acceleration occurred in the two patients treated at pubertal age. GH resistance, either caused by GH-Ab or GH receptor mutations, is still difficult to treat and results in a heterogeneous outcome.
authors.affiliation: Pediatric Department, Medical University of Vienna, Austria. stefan.riedl@meduniwien.ac.at
authors.forename: Stefan
authors.initials: S
authors.lastname: Riedl
authors.forename: Herwig
authors.initials: H
authors.lastname: Frisch
mesh_terms: D000906:Antibodies / Q000097:blood / Q000276:immunology; D001827:Body Height / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005500:Follow-Up Studies; D006130:Growth Disorders / Q000188:drug therapy / Q000235:genetics* / Q000276:immunology; D019382:Human Growth Hormone / Q000172:deficiency / Q000235:genetics* / Q000276:immunology / Q000627:therapeutic use*; D006801:Humans; D007223:Infant; D007334:Insulin-Like Growth Factor I / Q000627:therapeutic use*; D046150:Laron Syndrome / Q000188:drug therapy / Q000276:immunology; D008297:Male; D011986:Receptors, Somatotropin / Q000235:genetics; D011994:Recombinant Proteins; D016896:Treatment Outcome
chemical_list: D000906:Antibodies; D011986:Receptors, Somatotropin; D011994:Recombinant Proteins; D019382:Human Growth Hormone; D007334:Insulin-Like Growth Factor I