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Activating GNAS1 gene mutations in patients with premature thelarche

Authordc.contributor.authorRomán, Rossana 
Authordc.contributor.authorJohnson, María Cecilia 
Authordc.contributor.authorCodner Dujovne, Ethel 
Authordc.contributor.authorBoric Scarpa, María Angélica 
Authordc.contributor.authorÁvila, Alejandra 
Authordc.contributor.authorCassorla Goluboff, Fernando 
Admission datedc.date.accessioned2019-03-11T12:50:55Z
Available datedc.date.available2019-03-11T12:50:55Z
Publication datedc.date.issued2004
Cita de ítemdc.identifier.citationJournal of Pediatrics, Volumen 145, Issue 2, 2018, Pages 218-222
Identifierdc.identifier.issn00223476
Identifierdc.identifier.other10.1016/j.jpeds.2004.05.025
Identifierdc.identifier.urihttp://repositorio.uchile.cl/handle/2250/164116
Abstractdc.description.abstractObjective To identify GNAS1 gene mutations in girls with exaggerated and/or chronic fluctuating thelarche for at least 1-year duration with no other signs of precocious puberty, skeletal dysplasia, or typical skin lesions of McCune-Albright syndrome. Study design We studied the GNAS1 gene mutation by allele-specific polymerase chain reaction and enzymatic digestion in leukocyte DNA in 23 girls previously described. Results Fluctuating thelarche was present in 14 girls and exaggerated thelarche was observed in 9. Molecular study revealed that 6 girls had a substitution of arginine by histidine in codon 201 (R201H [+]). Three R201H (+) girls reached their menarche at a mean chronologic age of 10.8 years and 9 of the R201H (-) girls at a mean age of 11 years. Conclusions Activating mutations of GNAS1 gene may be observed in some girls with chronic fluctuating and/or exaggerated thelarche, without other classic signs of McCune-Albright syndrome.
Lenguagedc.language.isoen
Type of licensedc.rightsAttribution-NonCommercial-NoDerivs 3.0 Chile
Link to Licensedc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/3.0/cl/
Sourcedc.sourceJournal of Pediatrics
Keywordsdc.subjectArg
Keywordsdc.subjectArginine
Keywordsdc.subjectCys
Keywordsdc.subjectCysteine
Keywordsdc.subjectE2
Keywordsdc.subjectEstradiol
Keywordsdc.subjectFollicle-stimulating hormone
Keywordsdc.subjectFSH
Keywordsdc.subjectGαs protein
Keywordsdc.subjectGNAS1
Keywordsdc.subjectGnRH
Keywordsdc.subjectGonadotropin-releasing hormone
Keywordsdc.subjectIGF-1
Keywordsdc.subjectStimulatory G-protein, alpha subunit
Keywordsdc.subjectStimulatory G-protein, alpha subunit gene
Títulodc.titleActivating GNAS1 gene mutations in patients with premature thelarche
Document typedc.typeArtículo de revista
Catalogueruchile.catalogadorSCOPUS
Indexationuchile.indexArtículo de publicación SCOPUS
uchile.cosechauchile.cosechaSI


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Attribution-NonCommercial-NoDerivs 3.0 Chile
Except where otherwise noted, this item's license is described as Attribution-NonCommercial-NoDerivs 3.0 Chile