TY - JOUR
T1 - Isolated growth hormone deficiency type 1A ina Japanese family
AU - Nishi, Yoshikazu
AU - Aihara, Katsuaki
AU - Usui, Tomofusa
AU - Phillips, John A.
AU - Mallonee, Richard L.
AU - Migeon, Claude J.
N1 - Funding Information:
From the Departments of Pediatrics, iliroshima University School of Medicine and the Johns Hopkins University School of Medicine. Supported in part by the National hutitutes of Health (Research Grants ,,IM-00180-33 and AM-28246; Research Career Development Award I-KO4-AM-O0958" Research Career Award 5KO6-AM-21,855). Part of this work has been published in Japanese (Nishi Y. Aihara K. llyodo S. Usui 7". Phillips JA !!1, Migeon C J: Isolated growth hormone deficiency type IA due to hGll-N gene deletion. Pediatr Med (Jpn) 15:127, 1983).
PY - 1984/6
Y1 - 1984/6
N2 - 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.
AB - 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.
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U2 - 10.1016/S0022-3476(84)80487-4
DO - 10.1016/S0022-3476(84)80487-4
M3 - Article
C2 - 6539375
AN - SCOPUS:0021223874
SN - 0022-3476
VL - 104
SP - 885
EP - 889
JO - The Journal of pediatrics
JF - The Journal of pediatrics
IS - 6
ER -