Phenotypic and genotypic analysis of pediatric patients with congenital isolated growth hormone deficiency resulting from biallelic variants in the GHRHR gene: a Belgian registry study

Van De Velde, Simone;Boros, Emese;Brunelle, Chloë;Beckers, Dominique;Brachet, Cécile;et.al.
(2026) European Journal of Pediatrics — Vol. 185, n° 6, p. 403 (2026)

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  • Van De Velde, Simoneorcid-logo
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  • Boros, Emese
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  • Brunelle, Chloë
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  • Beckers, DominiqueUCLouvain
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  • Brachet, Cécile
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Abstract
Pathogenic variants in the growth hormone releasing hormone receptor (GHRHR) gene cause severe isolated growth hormone deficiency (IGHD). Over 82 distinct variants have been described, mostly in South and East Asia and Northern Brazil. This study characterizes the phenotypic and genotypic variability of children harboring (likely) pathogenic GHRHR variants, included in the Belgian and Luxembourg Registry for Growth Hormone Treated Children. We retrospectively reviewed clinical, biochemical, genetic and neuroimaging data from seven children with severe IGHD carrying biallelic GHRHR variants. Peak growth hormone (GH) concentrations were measured following insulin and glucagon-induced hypoglycemia. Auxological parameters at diagnosis and pituitary magnetic resonance imaging (MRI) findings were obtained from medical records.
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Van De Velde, S., Boros, E., Brunelle, C., Beckers, D., Thomas, M., Heinrichs, C., Vlaeminck, J., De Schepper, J., & Brachet, C. (2026). Phenotypic and genotypic analysis of pediatric patients with congenital isolated growth hormone deficiency resulting from biallelic variants in the GHRHR gene: a Belgian registry study. European Journal of Pediatrics, 185(6), 403. https://doi.org/10.1007/s00431-026-07039-6 (Original work published 2026)