Isolated growth hormone deficiency type 1A in a Japanese family.
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.
D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D004247:DNA / Q000235:genetics; D004393:Dwarfism, Pituitary / Q000209:etiology / Q000235:genetics; D005260:Female; D005796:Genes; D013006:Growth Hormone / Q000172:deficiency* / Q000235:genetics / Q000276:immunology; D006801:Humans; D007334:Insulin-Like Growth Factor I; D007564:Japan; D008297:Male; D012333:RNA, Messenger / Q000235:genetics; D013002:Somatomedins / Q000096:biosynthesis
D012333:RNA, Messenger; D013002:Somatomedins; D007334:Insulin-Like Growth Factor I; D013006:Growth Hormone; D004247:DNA