Is there heterozygote expression of growth hormone receptor deficiency?

Abstract:

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. Copyright © 1994, Wiley Blackwell. All rights reserved

Año de publicación:

1994

Keywords:

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

Fuente:

scopus