gps Mutations in Chilean patients harboring growth hormone-secreting pituitary tumors

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dc.contributor.authorJohnson, MC
dc.contributor.authorCodner, E
dc.contributor.authorEggers, M
dc.contributor.authorMosso, L
dc.contributor.authorRodriguez, JA
dc.contributor.authorCassorla, F
dc.date.accessioned2024-01-10T12:39:17Z
dc.date.available2024-01-10T12:39:17Z
dc.date.issued1999
dc.description.abstractHypersecretion of GH is usually caused by a pituitary adenoma and about 40% of these tumors exhibit missense gsp mutations in Arg(201) or Gln(227) of the Gs(alpha) gene. We studied 20 pituitary tumors obtained from patients with GH hypersecretion, One tumor was resected from an 11 year-old boy with a 3 year history of accelerated growth, associated with increased concentrations of serum GH and IGF-I, which were not suppressed by glucose administration, The remaining 19 tumors were obtained from adult acromegalic patients, who had elevated baseline serum GH levels that did not show evidence of suppression after administration of glucose, The gsp mutations were studied by enzymatic digestion of the amplified PCR fragment of exon 8 (Arg(201)) and exon 9 (Gln(227)) with the enzymes NlaIII and NgoAIV, respectively. The tumors obtained from the boy and from nine of the 19 patients with acromegaly exhibited the gsp mutation R201H. None of the tumors had the Gln(227) mutation. The gsp positive patients tended to be older, had smaller tumors, and had preoperative basal serum GH levels which were significantly lower (21 +/- 6 vs 56 +/- 16 mu g/l, p < 0.05) than the gsp negative patients, In this study, we documented the presence of a gsp mutation in Arg(201) in a boy with gigantism and in approximately half of 19 Chilean adult patients with acromegaly, similar to other populations.
dc.format.extent7 páginas
dc.fuente.origenWOS
dc.identifier.eissn2191-0251
dc.identifier.issn0334-018X
dc.identifier.pubmedidMEDLINE:10821217
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/77170
dc.identifier.wosidWOS:000081162900003
dc.information.autorucMedicina;Rodriguez J;S/I;98660
dc.issue.numero3
dc.language.isoen
dc.nota.accesoSin adjunto
dc.pagina.final387
dc.pagina.inicio381
dc.publisherWALTER DE GRUYTER GMBH
dc.revistaJOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM
dc.rightsregistro bibliográfico
dc.subjectgsp oncogene
dc.subjectgigantism
dc.subjectacromegaly
dc.subjectMCCUNE-ALBRIGHT SYNDROME
dc.subjectSTIMULATORY G-PROTEIN
dc.subjectADENYLYL CYCLASE
dc.subjectACTIVATING MUTATIONS
dc.subjectPROLACTIN
dc.subjectGIGANTISM
dc.subjectENDOCRINE
dc.subjectADENOMAS
dc.subjectHYPERPLASIA
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titlegps Mutations in Chilean patients harboring growth hormone-secreting pituitary tumors
dc.typeartículo
dc.volumen12
sipa.codpersvinculados98660
sipa.indexWOS
sipa.indexScopus
sipa.trazabilidadCarga SIPA;09-01-2024
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