Six new cases confirm the clinical molecular profile of complete combined 17 alpha-hydroxylase/17,20-lyase deficiency in Brazil

dc.creatorBelgini, DRB
dc.creatorde Mello, MP
dc.creatorBaptista, MTM
dc.creatorde Oliveira, DM
dc.creatorDenardi, FC
dc.creatorGarmes, HM
dc.creatorGrassiotto, OD
dc.creatorPinto, CLB
dc.creatorMarques-de-Faria, AP
dc.creatorMaciel-Guerra, AT
dc.creatorGuerra, G
dc.date2010
dc.dateNOV
dc.date2014-11-18T15:47:59Z
dc.date2015-11-26T16:56:25Z
dc.date2014-11-18T15:47:59Z
dc.date2015-11-26T16:56:25Z
dc.date.accessioned2018-03-28T23:43:50Z
dc.date.available2018-03-28T23:43:50Z
dc.identifierArquivos Brasileiros De Endocrinologia E Metabologia. Sbem-soc Brasil Endocrinologia & Metabologia, v. 54, n. 8, n. 711, n. 716, 2010.
dc.identifier0004-2730
dc.identifierWOS:000286690400008
dc.identifier10.1590/S0004-27302010000800008
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/74305
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/74305
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/74305
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1277368
dc.descriptionIn 2004, Costa-Santos and cols. reported 24 patients from 19 Brazilian families with 17 alpha-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 17 alpha-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 17 alpha-hydroxylase/17,20-lyase deficiency in Brazilian patients. Arq Bras Endocrinol Metab. 2010;54(8):711-6
dc.description54
dc.description8
dc.descriptionSI
dc.description711
dc.description716
dc.languageen
dc.publisherSbem-soc Brasil Endocrinologia & Metabologia
dc.publisherRio De Janeiro, Rj
dc.publisherBrasil
dc.relationArquivos Brasileiros De Endocrinologia E Metabologia
dc.relationArq. Bras. Endocrinol. Metabol.
dc.rightsaberto
dc.sourceWeb of Science
dc.subject17,20-lyase Deficiency
dc.subjectP450c17 Deficiency
dc.subjectCyp17a1 Gene
dc.subjectMutations
dc.subjectPatient
dc.subjectLyase
dc.titleSix new cases confirm the clinical molecular profile of complete combined 17 alpha-hydroxylase/17,20-lyase deficiency in Brazil
dc.typeArtículos de revistas


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