p.R209H GH1 variant challenges short stature assessment.
Growth Horm IGF Res
; 50: 23-26, 2020 02.
Article
in En
| MEDLINE
| ID: mdl-31835104
ABSTRACT
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).
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Body Height
/
Human Growth Hormone
/
Mutation, Missense
/
Dwarfism, Pituitary
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
America do sul
/
Argentina
Language:
En
Journal:
Growth Horm IGF Res
Journal subject:
ENDOCRINOLOGIA
Year:
2020
Document type:
Article
Affiliation country:
Argentina