Study of GH sensitivity in Chilean patients with idiopathic short stature

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dc.contributor.authorSjoberg, M
dc.contributor.authorSalazar, T
dc.contributor.authorEspinosa, C
dc.contributor.authorDagnino, A
dc.contributor.authorAvila, A
dc.contributor.authorEggers, M
dc.contributor.authorCassorla, F
dc.contributor.authorCarvallo, P
dc.contributor.authorMericq, MV
dc.date.accessioned2024-01-10T13:10:05Z
dc.date.available2024-01-10T13:10:05Z
dc.date.issued2001
dc.description.abstractWe hypothesized that some children with idiopathic short stature in Chile might bear heterozygous mutations of the GH receptor. We selected 26 patients (3 females, 23 males) from 112 patients who consulted for idiopathic short stature at the University of Chile. Their chronological age was 8.3 +/-1.9, and bone age was 6.1 +/-1.0 yr. Their height was -3.0 +/-0.7 SDS; IGF-I, -1.2 +/-1.1 SD; IGF binding protein 3, -0.7 +/-2.0 SDS; and GH binding protein, 0.4 +/-0.8 SDS. Patients were admitted, and blood samples were obtained every 20 min to determine GH concentrations overnight. Coding sequences and intron-exon boundaries of exons 2-10 of GH receptor gene were amplified by PCR and subsequently analyzed through single-strand conformational analysis. Mean serum GH concentration, over 12-h, was 0.20 +/-0.08 nm; pulse amplitude, 0.40 +/-0.15 nM; number of peaks, 5.8 +/-1.5 peaks/12 h; peak value of GH during the 12-h sampling, 1.03 +/-0.53 nm; and area under the curve, 151.4 +/- 56.1 nM/12 h. There were positive correlations between mean GH vs. area under the curve (P<0.001) and GH peak (P<0.01). The single-strand conformational analysis of the GH receptor gene showed abnormal migration for exon 6 in 9 patients and for exon 10 in 9 patients, which (by sequence analysis) corresponded to 2 polymorphisms of the GH receptor gene: an A-to-G transition in third position of codon 168 in exon 6 and a C-to-A transversion in the first position of codon 526 in exon 10. We further sequenced all coding exons and intron-exon boundaries in the most affected patients (nos. 6, 9, 11, 14, 15, 16, and 23). This analysis revealed a C-to-T transition in codon 161 of exon 6 in patient 23, which results in an amino acid change (Arg to Cys) in an heterozygous form in the patient and his father. In conclusion, the results of our study suggest that, in Chilean patients with idiopathic short stature, GH receptor gene mutations are uncommon, although we cannot exclude mutations that were missed by single-strand conformational analysis or mutations within introns or in the promoter regions of the GH receptor gene.
dc.format.extent7 páginas
dc.fuente.origenWOS
dc.identifier.doi10.1210/jc.86.9.4375
dc.identifier.eissn1945-7197
dc.identifier.issn0021-972X
dc.identifier.pubmedidMEDLINE:11549678
dc.identifier.urihttps://doi.org/10.1210/jc.86.9.4375
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/77764
dc.identifier.wosidWOS:000170951600053
dc.information.autorucFacultad de Ciencias Biológicas; Sjoberg Herrera, Marcela Katherine; S/I; 1040445
dc.issue.numero9
dc.language.isoen
dc.nota.accesoSin adjunto
dc.pagina.final4381
dc.pagina.inicio4375
dc.publisherENDOCRINE SOC
dc.revistaJOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
dc.rightsregistro bibliográfico
dc.subjectGROWTH-HORMONE RECEPTOR
dc.subjectLARON-TYPE DWARFISM
dc.subjectBINDING-PROTEIN
dc.subjectINSENSITIVITY SYNDROME
dc.subjectIGF-I
dc.subjectCHILDREN
dc.subjectMUTATIONS
dc.subjectDEFICIENCY
dc.subjectGENE
dc.subjectPHENOTYPE
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleStudy of GH sensitivity in Chilean patients with idiopathic short stature
dc.typeartículo
dc.volumen86
sipa.codpersvinculados1040445
sipa.indexWOS
sipa.indexPubmed
sipa.trazabilidadCarga SIPA;09-01-2024
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