PMID: 6539375Jun 1, 1984Paper

Isolated growth hormone deficiency type 1A in a Japanese family

The Journal of Pediatrics
Y NishiC J Migeon

Abstract

A Japanese family is described in which a 7-year-old child had isolated growth hormone deficiency type 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.

References

Mar 1, 1977·Proceedings of the National Academy of Sciences of the United States of America·L M KunkelJ M Rary
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Citations

Jan 1, 1988·Molecular Aspects of Medicine·M Wallis
Mar 1, 1990·Journal of Medical Genetics·Y A HeD F Wang
Jan 1, 1993·The Journal of Pediatric Endocrinology·K K Hartmann
Jan 1, 1989·Acta Paediatrica Scandinavica. Supplement·J S Parks
Mar 1, 1986·BioEssays : News and Reviews in Molecular, Cellular and Developmental Biology·D R Repaske, J A Phillips
Sep 1, 1987·Jinrui idengaku zasshi. The Japanese journal of human genetics·I MatsudaY Okada
Jan 1, 1997·Journal of Pediatric Endocrinology & Metabolism : JPEM·Y NishiJ Koga
Jun 27, 2002·American Journal of Pharmacogenomics : Genomics-related Research in Drug Development and Clinical Practice·Gerhard Baumann
May 1, 1996·Journal of Pediatric Endocrinology & Metabolism : JPEM·O H SercanA Büyükgebiz

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