CLINICAL IMPLICATIONS OF MUTATIONS IN GHRH HORMONE GENE

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Johns Hopkins University, Baltimore MD

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Abstract

Isolated GH deficiency (IGHD) is a rare disease, often labeled as "idiopathic". As anatomic abnormalities of the pituitary or the hypothalamus are found only in a minority of cases, we postulate that a subgroup of patients affected by IGHD may have abnormalities in the gene encoding for the GHRH receptor.

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