Growth hormone blocking antibodies in a patient with deletion of the GH-N gene. 1987

S Schwarz, and P Berger, and H Frisch, and R Moncayo, and J A Phillips, and G Wick
Institute for General and Experimental Pathology, Austrian Academy of Sciences, University of Innsbruck, School of Medicine.

We present another patient with the rare disorder of isolated GH deficiency (IGHD) type 1A. The diagnosis was confirmed by the clinical course, serology and genetic structure. Analysis of the post GH treatment serum of this patient with several thoroughly characterized monoclonal antibodies against GH established the presence of polyclonal, high titre and high avidity IgG-class antibodies against GH. These had the ability to neutralize GH as they could inhibit the binding of radiolabelled GH to GH-receptors on IM9 lymphoblastoid cells. DNA restriction mapping indicated a deletion of the GH-N gene and a family DNA pattern that was consistent with the proposed autosomal recessive aetiology of this disorder. These findings explain the inability of this patient to synthesize GH and his total immunological intolerance to GH replacement therapy.

UI MeSH Term Description Entries
D008297 Male Males
D002675 Child, Preschool A child between the ages of 2 and 5. Children, Preschool,Preschool Child,Preschool Children
D002872 Chromosome Deletion Actual loss of portion of a chromosome. Monosomy, Partial,Partial Monosomy,Deletion, Chromosome,Deletions, Chromosome,Monosomies, Partial,Partial Monosomies
D004393 Dwarfism, Pituitary A form of dwarfism caused by complete or partial GROWTH HORMONE deficiency, resulting from either the lack of GROWTH HORMONE-RELEASING FACTOR from the HYPOTHALAMUS or from the mutations in the growth hormone gene (GH1) in the PITUITARY GLAND. It is also known as Type I pituitary dwarfism. Human hypophysial dwarf is caused by a deficiency of HUMAN GROWTH HORMONE during development. Growth Hormone Deficiency Dwarfism,Hypophysial Dwarf,Hyposomatotrophic Dwarfism,Pituitary Dwarf,Dwarfism, Growth Hormone Deficiency,Isolated GH Deficiency,Isolated Growth Hormone Deficiency,Isolated HGH Deficiency,Isolated Human Growth Hormone Deficiency,Isolated Somatotropin Deficiency,Isolated Somatotropin Deficiency Disorder,Nanism, Pituitary,Pituitary Dwarfism,Pituitary Nanism
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000906 Antibodies Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS).
D001667 Binding, Competitive The interaction of two or more substrates or ligands with the same binding site. The displacement of one by the other is used in quantitative and selective affinity measurements. Competitive Binding
D013006 Growth Hormone A polypeptide that is secreted by the adenohypophysis (PITUITARY GLAND, ANTERIOR). Growth hormone, also known as somatotropin, stimulates mitosis, cell differentiation and cell growth. Species-specific growth hormones have been synthesized. Growth Hormone, Recombinant,Pituitary Growth Hormone,Recombinant Growth Hormone,Somatotropin,Somatotropin, Recombinant,Growth Hormone, Pituitary,Growth Hormones Pituitary, Recombinant,Pituitary Growth Hormones, Recombinant,Recombinant Growth Hormones,Recombinant Pituitary Growth Hormones,Recombinant Somatotropins,Somatotropins, Recombinant,Growth Hormones, Recombinant,Recombinant Somatotropin

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