Is there heterozygote expression of growth hormone receptor deficiency?

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

Producción científica: Contribución a una revistaArtículorevisión exhaustiva

20 Citas (Scopus)


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.

Idioma originalInglés
Páginas (desde-hasta)125-127
Número de páginas3
PublicaciónActa Pædiatrica
EstadoPublicada - abr. 1994
Publicado de forma externa


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