Isolated growth hormone deficiency type 1A ina Japanese family

Yoshikazu Nishi, Katsuaki Aihara, Tomofusa Usui, John A. Phillips, Richard L. Mallonee, Claude J. Migeon

Research output: Contribution to journalArticle

Abstract

A Japanese family is described in which a 7-year-old child had isolated growth hormone deficiencytype 1A, as described by Illig et al. He was shown to be homozygous for a deletion of the structural gene for hGH (hGH-N gene). Initially his growth rate responded well to hGH administration, but rapidly he developed high titers of hGH antibodies, and growth ceased. At that time, a somatomedin-C generation test gave negative results, suggesting that the growth arrest was related to the inability of hGH to generate somatomedin. Both parents were heterozygous for the hGH-N gene deletion and had a low hGH response to arginine and l-dopa tolerance tests, but had normal basal somatomedin-C levels and normal somatomedin-C generation tests. This family is the fourth to be reported with IGHD type 1A caused by deletion of the hGH-N gene. This cause of growth hormone deficiency can be distinguished from other severe autosomal recessive types of hGH deficiency by the demonstration of the deletion of hGH-N gene using restriction endonuclease analysis.

Original languageEnglish (US)
Pages (from-to)885-889
Number of pages5
JournalJournal of Pediatrics
Volume104
Issue number6
DOIs
StatePublished - 1984
Externally publishedYes

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Pituitary Dwarfism
Insulin-Like Growth Factor I
Gene Deletion
Growth Hormone
Growth
Genes
Dihydroxyphenylalanine
DNA Restriction Enzymes
Somatomedins
Arginine
Parents
Antibodies
indium arsenide

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Nishi, Y., Aihara, K., Usui, T., Phillips, J. A., Mallonee, R. L., & Migeon, C. J. (1984). Isolated growth hormone deficiency type 1A ina Japanese family. Journal of Pediatrics, 104(6), 885-889. https://doi.org/10.1016/S0022-3476(84)80487-4

Isolated growth hormone deficiency type 1A ina Japanese family. / Nishi, Yoshikazu; Aihara, Katsuaki; Usui, Tomofusa; Phillips, John A.; Mallonee, Richard L.; Migeon, Claude J.

In: Journal of Pediatrics, Vol. 104, No. 6, 1984, p. 885-889.

Research output: Contribution to journalArticle

Nishi, Y, Aihara, K, Usui, T, Phillips, JA, Mallonee, RL & Migeon, CJ 1984, 'Isolated growth hormone deficiency type 1A ina Japanese family', Journal of Pediatrics, vol. 104, no. 6, pp. 885-889. https://doi.org/10.1016/S0022-3476(84)80487-4
Nishi Y, Aihara K, Usui T, Phillips JA, Mallonee RL, Migeon CJ. Isolated growth hormone deficiency type 1A ina Japanese family. Journal of Pediatrics. 1984;104(6):885-889. https://doi.org/10.1016/S0022-3476(84)80487-4
Nishi, Yoshikazu ; Aihara, Katsuaki ; Usui, Tomofusa ; Phillips, John A. ; Mallonee, Richard L. ; Migeon, Claude J. / Isolated growth hormone deficiency type 1A ina Japanese family. In: Journal of Pediatrics. 1984 ; Vol. 104, No. 6. pp. 885-889.
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