Which clinical history findings are characteristic of growth hormone receptor deficiency (GHRD)?

Updated: Jan 15, 2019
  • Author: Arlan L Rosenbloom, MD; Chief Editor: Robert P Hoffman, MD  more...
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The clinical features of GHRD are not different than those of severe GH deficiency. Postreceptor abnormalities differ from GHRD in not having hypoglycemia, because the counter-regulatory effects of GH are not impaired. IGF-I mutations differ from GHRD with severe mental retardation, sensorineural deafness, micrognathia, microcephaly, and intrauterine growth retardation. Heterozygous IGF-I receptor mutations have no or mild-to-moderate effect on brain development, but they do result in intrauterine growth retardation.

A single case report exists of a homozygous mutation resulting in severe prenatal and postnatal growth failure with malformations in a Lebanese child born of parents who were first cousins who were unaffected by their heterozygosity. [34]

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