How is growth hormone receptor deficiency (GHRD) differentiated from severe growth hormone deficiency (GHD)?

Updated: Jan 15, 2019
  • Author: Arlan L Rosenbloom, MD; Chief Editor: Robert P Hoffman, MD  more...
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Answer

GHRD is clinically indistinguishable from severe GHD. Serum GH concentrations, however, are elevated or briskly responsive to stimulation; baseline values are less likely to be elevated in adults than in children. Serum GHBP levels are low to unmeasurable in most forms of GHRD, those that involve the extracellular domain of the GH receptor. IGFBP3 levels are also low and IGF-II concentrations are elevated. IGF-I generation tests are not necessary for diagnosis and may be misleading. STAT5b mutations result in a similar clinical picture, but with normal GHBP and IGFBP3 concentrations, and in problems with immunocompetence (recurrent and chronic infections). ALS mutations are also associated with normal GHBP, markedly reduced IGFBP3 and IGF-I concentrations, unmeasurable ALS, and a relatively mild growth retardation. IGF-I mutations and heterozygous IGF-I receptor mutations are distinguished by their causing intrauterine growth retardation.


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