Short stature caused by a natural growth hormone antagonist

Hormone Research
K ChiharaH Abe

Abstract

Severe short stature in a male child due to a single mutation in the GH-1 gene was first reported in 1996 by Takahashi et al. [N Engl J Med 1996;334:432-436]. This missense mutation was predicted to convert codon 77 from arginine (R) to cysteine (C). The child's chronological age was 4 years and 11 months, and his bone age 2 years and 6 months, i.e., equal to only 51% of his chronological age. Body proportions were normal except for the prominent forehead and saddle nose. Pituitary size was normal on magnetic resonance imaging examinations. Serum IGF-1, IGFBP-3 and GHBP were all decreased or at the lower limit of the normal range. Nocturnal urinary growth hormone (GH) excretion was high. Isoelectric focusing analysis revealed the presence of an abnormal GH peak in addition to the normal one. The R77C mutant GH possessed a 6 times greater affinity to GHBP than the wild-type GH, and inhibited tyrosine phosphorylation in IM-9 cells 10 times more potently than the wild-type GH, showing an antagonistic or a dominant negative action. In agreement with the antagonistic property of the mutant GH exhibited, the child did not show any increase in serum IGF-1 levels after exogenous hGH administration. It should be noted that the child in ...Continue Reading

Citations

Jul 28, 2011·Journal of Pediatric Hematology/oncology·Silvia van den HeijkantHenriette Delemarre-van de Waal
Jan 29, 2011·Journal of Clinical Research in Pediatric Endocrinology·Primus E Mullis
Mar 15, 2011·Best Practice & Research. Clinical Endocrinology & Metabolism·Primus-E Mullis
Feb 17, 2005·The Journal of Clinical Endocrinology and Metabolism·Amélie BessonPrimus E Mullis
May 24, 2007·The Journal of Clinical Endocrinology and Metabolism·Vibor PetkovicPrimus E Mullis

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