{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,24]],"date-time":"2025-10-24T12:58:10Z","timestamp":1761310690030},"reference-count":39,"publisher":"FapUNIFESP (SciELO)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq Bras Endocrinol Metab"],"published-print":{"date-parts":[[2011,2]]},"abstract":"<jats:p>OBJETIVO: Descrever o perfil gen\u00e9tico e metab\u00f3lico de portadores da s\u00edndrome de Berardinelli-Seip (BSCL) acompanhados no Instituto da Crian\u00e7a do HC-FMUSP. SUJEITOS E M\u00c9TODOS: Pacientes com as caracter\u00edsticas cl\u00ednicas da BSCL (n = 5), todas do sexo feminino, foram avaliadas com dosagens de glicose e insulina, l\u00edpides, leptina, enzimas hep\u00e1ticas, an\u00e1lise de DNA, ultrassonografia abdominal. RESULTADOS: A defici\u00eancia de leptina e a hipertrigliceridemia foram constatadas nas cinco pacientes. Tr\u00eas evolu\u00edram para diabetes melito (DM). Quatro tiveram muta\u00e7\u00e3o no gene AGPAT2 e uma no gene CAV1. CONCLUS\u00c3O: As altera\u00e7\u00f5es metab\u00f3licas mais precoces foram a hipertrigliceridemia e a resist\u00eancia insul\u00ednica, culminando no surgimento do DM \u00e0 \u00e9poca da puberdade, sendo as muta\u00e7\u00f5es no gene AGPAT2 as mais frequentes em nossa casu\u00edstica.<\/jats:p>","DOI":"10.1590\/s0004-27302011000100007","type":"journal-article","created":{"date-parts":[[2011,4,1]],"date-time":"2011-04-01T14:52:17Z","timestamp":1301669537000},"page":"54-59","source":"Crossref","is-referenced-by-count":4,"title":["S\u00edndrome de Berardinelli-Seip: descri\u00e7\u00e3o gen\u00e9tica e metab\u00f3lica de cinco pacientes"],"prefix":"10.1590","volume":"55","author":[{"given":"Cristiane B.","family":"Barra","sequence":"first","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberta D.","family":"Savoldelli","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thais D.","family":"Manna","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chong A.","family":"Kim","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jocelyn","family":"Magre","sequence":"additional","affiliation":[{"name":"Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale,  France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gilda","family":"Porta","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nuvarte","family":"Setian","sequence":"additional","affiliation":[{"name":"Universidade de S\u00e3o Paulo,  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