Isolated human growth hormone deficiency due to the hGH-I gene deletion with (type IA) and without (the Israeli-type) hGH antibody formation during hGH therapy. 1990

Y Nishi, and H Masuda, and S Nishimura, and M Kihara, and S Suwa, and K Tachibana, and M Takeda, and Y Okada, and I Matsuda
Department of Pediatrics, Hiroshima Red Cross Hospital, Japan.

Three Japanese patients with isolated growth hormone deficiency from two different families were shown to be homozygous for deletion of the structural gene for human growth hormone (hGH-I gene). These three patients had the same restriction fragment length polymorphism haplotypes. In patient No. 1, the growth rate initially responded well to pituitary human growth hormone, but growth rapidly ceased concomitantly with the development of high levels of anti-hGH antibodies. He again responded well to recombinant methionyl hGH and recombinant hGH without the methionine residue, even though having high hGH antibodies. Two siblings (Patients No. 2 and 3) showed a rather good response to pituitary hGH treatment without hGH antibodies ever being detected (the Israeli-type). hGH-I gene deletions may not necessarily result in hGH antibody formation. Heterogeneity has been observed in isolated hGH deficiency due to hGH-I gene deletion. hGH-I gene analysis should not be limited to patients with hGH antibody formation and subnormal growth responses to hGH therapy.

UI MeSH Term Description Entries
D008297 Male Males
D010641 Phenotype The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment. Phenotypes
D012150 Polymorphism, Restriction Fragment Length Variation occurring within a species in the presence or length of DNA fragment generated by a specific endonuclease at a specific site in the genome. Such variations are generated by mutations that create or abolish recognition sites for these enzymes or change the length of the fragment. RFLP,Restriction Fragment Length Polymorphism,RFLPs,Restriction Fragment Length Polymorphisms
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
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
D004247 DNA A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine). DNA, Double-Stranded,Deoxyribonucleic Acid,ds-DNA,DNA, Double Stranded,Double-Stranded DNA,ds DNA
D004262 DNA Restriction Enzymes Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1. Restriction Endonucleases,DNA Restriction Enzyme,Restriction Endonuclease,Endonuclease, Restriction,Endonucleases, Restriction,Enzymes, DNA Restriction,Restriction Enzyme, DNA,Restriction Enzymes, DNA
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
D005190 Family A social group consisting of parents or parent substitutes and children. Family Life Cycles,Family Members,Family Life Cycle,Family Research,Filiation,Kinship Networks,Relatives,Families,Family Member,Kinship Network,Life Cycle, Family,Life Cycles, Family,Network, Kinship,Networks, Kinship,Research, Family

Related Publications

Y Nishi, and H Masuda, and S Nishimura, and M Kihara, and S Suwa, and K Tachibana, and M Takeda, and Y Okada, and I Matsuda
November 1993, Acta paediatrica (Oslo, Norway : 1992),
Y Nishi, and H Masuda, and S Nishimura, and M Kihara, and S Suwa, and K Tachibana, and M Takeda, and Y Okada, and I Matsuda
August 1992, The Journal of clinical endocrinology and metabolism,
Y Nishi, and H Masuda, and S Nishimura, and M Kihara, and S Suwa, and K Tachibana, and M Takeda, and Y Okada, and I Matsuda
November 1994, Pediatric research,
Y Nishi, and H Masuda, and S Nishimura, and M Kihara, and S Suwa, and K Tachibana, and M Takeda, and Y Okada, and I Matsuda
January 1983, Endocrine reviews,
Y Nishi, and H Masuda, and S Nishimura, and M Kihara, and S Suwa, and K Tachibana, and M Takeda, and Y Okada, and I Matsuda
December 1985, Israel journal of medical sciences,
Y Nishi, and H Masuda, and S Nishimura, and M Kihara, and S Suwa, and K Tachibana, and M Takeda, and Y Okada, and I Matsuda
January 1999, Journal of pediatric endocrinology & metabolism : JPEM,
Y Nishi, and H Masuda, and S Nishimura, and M Kihara, and S Suwa, and K Tachibana, and M Takeda, and Y Okada, and I Matsuda
November 2021, Journal of clinical research in pediatric endocrinology,
Y Nishi, and H Masuda, and S Nishimura, and M Kihara, and S Suwa, and K Tachibana, and M Takeda, and Y Okada, and I Matsuda
January 2012, Endocrine development,
Y Nishi, and H Masuda, and S Nishimura, and M Kihara, and S Suwa, and K Tachibana, and M Takeda, and Y Okada, and I Matsuda
September 2021, BMC medical genomics,
Y Nishi, and H Masuda, and S Nishimura, and M Kihara, and S Suwa, and K Tachibana, and M Takeda, and Y Okada, and I Matsuda
October 1993, Human molecular genetics,
Copied contents to your clipboard!