Six New Cases Confirm The Clinical Molecular Profile Of Complete Combined 17α-hydroxylase/ 17,20-lyase Deficiency In Brazil [seis Novos Casos Confirmam O Perfil Clínico Molecular De Deficiência Combinada De 17 Alfa-hidroxilase/17,20-liase No Brasil]

dc.creatorBelgini D.R.B.
dc.creatorde Mello M.P.
dc.creatorBaptista M.T.M.
dc.creatorde Oliveira D.M.
dc.creatorDenardi F.C.
dc.creatorGarmes H.M.
dc.creatorda Rocha Grassiotto O.
dc.creatorPinto C.L.B.
dc.creatorMarques-de-Faria A.P.
dc.creatorMaciel-Guerra A.T.
dc.creatorGuerra-Junior G.
dc.date2010
dc.date2015-06-26T12:34:18Z
dc.date2015-11-26T15:24:48Z
dc.date2015-06-26T12:34:18Z
dc.date2015-11-26T15:24:48Z
dc.date.accessioned2018-03-28T22:33:41Z
dc.date.available2018-03-28T22:33:41Z
dc.identifier
dc.identifierArquivos Brasileiros De Endocrinologia E Metabologia. , v. 54, n. 8, p. 711 - 716, 2010.
dc.identifier42730
dc.identifier10.1590/S0004-27302010000800008
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-79952001269&partnerID=40&md5=46d751afbe28bdbf6c6ab8bcbdcd72a2
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/90796
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/90796
dc.identifier2-s2.0-79952001269
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1260777
dc.descriptionIn 2004, Costa-Santos and cols. reported 24 patients from 19 Brazilian families with 17α-hydroxylase deficiency and showed that p.W406R and p.R362C corresponded to 50% and 32% of CYP17A1 mutant alleles, respectively. The present report describes clinical and molecular data of six patients from three inbred Brazilian families with 17α-hydroxlyse deficiency. All patients had hypogonadism, amenorrhea and hypertension at diagnosis. Two sisters were found to be 46,XY with both gonads palpable in the inguinal region. All patients presented hypergonadotrophic hypogonadism, with high levels of ACTH (> 104 ng/mL), suppressed plasmatic renin activity, low levels of potassium (< 2.8 mEq/L) and elevated progesterone levels (> 4.4 ng/mL). Three of them, including two sisters, were homozygous for p.W406R mutation and the other three (two sisters and one cousin) were homozygous for p.R362C. The finding of p.W406R and p.R362C in the CYP17A1 gene here reported in additional families, confirms them as the most frequent mutations causing complete combined 17α-hydroxylase/17,20-lyase deficiency in Brazilian patients. © ABE&M todos os direitos reservados.
dc.description54
dc.description8
dc.description711
dc.description716
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dc.languagept
dc.publisher
dc.relationArquivos Brasileiros de Endocrinologia e Metabologia
dc.rightsaberto
dc.sourceScopus
dc.titleSix New Cases Confirm The Clinical Molecular Profile Of Complete Combined 17α-hydroxylase/ 17,20-lyase Deficiency In Brazil [seis Novos Casos Confirmam O Perfil Clínico Molecular De Deficiência Combinada De 17 Alfa-hidroxilase/17,20-liase No Brasil]
dc.typeArtículos de revistas


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