title: Growth hormone deficiency due to GH-N gene deletion in an Austrian family.
abstract: An 11 year old Austrian boy with isolated growth hormone deficiency type I A is described. On institution of GH therapy at the age of 2 2/12 years there was only a short growth response and anti-GH-antibodies with high binding capacity were detected, and growth was inhibited. Examination of the nuclear DNA by restriction endonuclease analysis demonstrated a defect of the GH-N gene in the patient. The results suggest the deletion in this Austrian family is different from that seen in other patients. The parents were heterozygous for the deletion and had a subnormal GH response to stimulation with arginine, but their somatomedin-C concentrations and their heights were normal. The patients' sister was of normal height, hormone analyses were normal, and the GH-N gene was not affected.
mesh_terms: D000906:Antibodies / Q000032:analysis; D001120:Arginine; D001317:Austria; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D006130:Growth Disorders / Q000188:drug therapy / Q000235:genetics*; D013006:Growth Hormone / Q000097:blood / Q000172:deficiency* / Q000235:genetics / Q000276:immunology / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D007328:Insulin; D008297:Male; D009693:Nucleic Acid Hybridization
chemical_list: D000906:Antibodies; D007328:Insulin; D013006:Growth Hormone; D004247:DNA; D001120:Arginine