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Autosomal Dominant GH Deficiency Due to an Arg183HisGH-1Gene Mutation: Clinical and Molecular Evidence of Impaired Regulated GH Secretion

1 Aug 2001

Abstract excerpt

G to A transition at position 6664 of the GH-1 gene results in the substitution of Arg183 by His (R183H) in human GH protein and causes a new form of autosomal dominant isolated GH deficiency (type II). Although a weak GH release after standard pharmacological provocation tests is observed in these affected individuals, the dominant inheritance pattern is postulated to be caused by a blockade of the GH-regulated...

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PMID: 11502836
DOI: 10.1210/jcem.86.8.7723

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