Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society · 2019
p.R209H GH1 variant challenges short stature assessment.
СтатьяПоддержка NIH: внешняя программаПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод пока не подготовлен
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Sanguineti Nora, Braslavsky Debora, Scaglia Paula A, Keselman Ana, Ballerini Maria G, Ropelato Maria G, Suco Sofia, Vishnopolska Sebastian, Berenstein Ariel J, Jasper Héctor, Domené Horacio M, Rey Rodolfo A, Pérez Millán Maria I, Camper Sally A, Bergadá Ignacio
Аннотация
OBJECTIVE: to describe the marked variability in clinical and biochemical patterns that are associated with a p.R209H GH1 missense variant in a large Argentinean pedigree, which makes the diagnosis of GHD elusive.
DESIGN: We describe a non-consanguineous pedigree composed by several individuals with short stature, including 2 pediatric patients with typical diagnosis of isolated growth hormone deficiency (IGHD) and 4 other siblings with severe short stature, low serum IGF-1 and IGFBP-3, but normal stimulated GH levels, suggesting growth hormone insensitivity (GHI) in the latter group.
RESULTS: Patients with classical IGHD phenotype carried a heterozygous variant in GH1: c.626G>A (p.R209H). Data from the extended pedigree suggested GH1 as the initial candidate gene, which showed the same pathogenic heterozygous GH1 variant in the four siblings with short stature and a biochemical pattern of GHI.
CONCLUSIONS: We suggest considering GH1 sequencing in children with short stature associated to low IGF-1 and IGFBP-3 serum levels, even in the context of normal response to growth hormone provocative testing (GHPT).
DESIGN: We describe a non-consanguineous pedigree composed by several individuals with short stature, including 2 pediatric patients with typical diagnosis of isolated growth hormone deficiency (IGHD) and 4 other siblings with severe short stature, low serum IGF-1 and IGFBP-3, but normal stimulated GH levels, suggesting growth hormone insensitivity (GHI) in the latter group.
RESULTS: Patients with classical IGHD phenotype carried a heterozygous variant in GH1: c.626G>A (p.R209H). Data from the extended pedigree suggested GH1 as the initial candidate gene, which showed the same pathogenic heterozygous GH1 variant in the four siblings with short stature and a biochemical pattern of GHI.
CONCLUSIONS: We suggest considering GH1 sequencing in children with short stature associated to low IGF-1 and IGFBP-3 serum levels, even in the context of normal response to growth hormone provocative testing (GHPT).
Предметные рубрики MeSH
AdolescentAdultArgentinaBody HeightChildChild, PreschoolDiagnostic Techniques, EndocrineDwarfism, PituitaryFemaleGrowth DisordersHeterozygoteHomozygoteHuman Growth HormoneHumansInsulin-Like Growth Factor Binding Protein 3Insulin-Like Growth Factor IMaleMiddle AgedMutation, MissensePedigreeYoung Adult