Is there heterozygote expression of growth hormone receptor deficiency?

AL Rosenbloom, J. Guevara‐Aguirre, RG Rosenfeld, PJ Fielder

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


Expression of heterozygosity for the defect in the growth hormone (GH) receptor has been proposed to be reflected in stature, and in GH binding protein (GHBP) and insulin‐like growth factor I (IGF‐I) levels in parents and other relatives of patients with GH receptor deficiency (GHRD; Laron syndrome). The Ecuadorean population with GHRD, in which heterozygosity can be accurately determined in clinically unaffected relatives of probands, offers a unique opportunity to consider this issue. It has previously been demonstrated that 17 parents heterozygous for the Ecuadorean mutation of the GH receptor differed little in biochemical measures (GHBP, IGF‐I, IGF‐II, IGFBP‐2 and IGFBP‐3) from Ecuadorean controls. Mean height SDS of 24 non‐carrier siblings (−1.3 ± 0.95 SD) and 41 heterozygote siblings or offspring of probands (−1.8 ± 1.15) did not differ significantly (p= 0.08). Thus, although there may be slight heterozygote expression of the defective gene for the GH receptor, there is no rationale for counselling based on such minimal variation.

Original languageEnglish (US)
Pages (from-to)125-127
Number of pages3
JournalActa Pædiatrica
StatePublished - Apr 1994


  • Growth hormone receptor deficiency
  • Laron syndrome
  • growth hormone binding protein
  • growth hormone receptor
  • heterozygote expression
  • insulin‐like growth factor I

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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