Isolated growth hormone deficiency type 1A ina Japanese family

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

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25 Scopus citations


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
JournalThe Journal of pediatrics
Issue number6
StatePublished - Jun 1984
Externally publishedYes

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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