Heterozygosis For Cyp21a2 Mutation Considered As 21-hydroxylase Deficiency In Neonatal Screening.

dc.creatorSoardi, Fernanda Caroline
dc.creatorLemos-Marini, Sofia Helena V
dc.creatorCoeli, Fernanda Borchers
dc.creatorMaturana, Víctor Gonçalves
dc.creatorSilva, Márcia Duarte Barbosa da
dc.creatorBernardi, Renan Darin
dc.creatorJusto, Giselle Zenker
dc.creatorde-Mello, Maricilda Palandi
dc.date2008-Nov
dc.date2015-11-27T13:13:26Z
dc.date2015-11-27T13:13:26Z
dc.date.accessioned2018-03-29T01:07:57Z
dc.date.available2018-03-29T01:07:57Z
dc.identifierArquivos Brasileiros De Endocrinologia E Metabologia. v. 52, n. 8, p. 1388-92, 2008-Nov.
dc.identifier1677-9487
dc.identifier
dc.identifierhttp://www.ncbi.nlm.nih.gov/pubmed/19169499
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/198094
dc.identifier19169499
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1298327
dc.descriptionSteroid 21-hydroxylase deficiency (21-OHD) accounts for more than 90% of congenital adrenal hyperplasia. CAH newborn screening, in general, is based on 17-hydroxyprogesterone dosage (17-OHP), however it is complicated by the fact that healthy preterm infants have high levels of 17-OHP resulting in false positive cases. We report on molecular features of a boy born pre-term (GA = 30 weeks; weight = 1,390 g) with elevated levels of 17-OHP (91.2 nmol/L, normal < 40) upon neonatal screening who was treated as having CAH up to the age of 8 months. He was brought to us for molecular diagnosis. Medication was gradually suspended and serum 17-OHP dosages mantained normal. The p.V281L mutation was found in compound heterozygous status with a group of nucleotide alterations located at the 3' end intron 4 and 5' end exon 5 corresponding to the splice site acceptor region. Molecular studies continued in order to exclude the possibility of a nonclassical 21-OHD form. The group of three nucleotide changes was demonstrated to be a normal variant since they failed to interfere with the normal splicing process upon minigene studies.
dc.description52
dc.description1388-92
dc.languageeng
dc.relationArquivos Brasileiros De Endocrinologia E Metabologia
dc.relationArq Bras Endocrinol Metabol
dc.rightsaberto
dc.rights
dc.sourcePubMed
dc.subject17-alpha-hydroxyprogesterone
dc.subjectAdrenal Hyperplasia, Congenital
dc.subjectFalse Positive Reactions
dc.subjectFemale
dc.subjectHeterozygote
dc.subjectHumans
dc.subjectInfant, Newborn
dc.subjectMale
dc.subjectMutation
dc.subjectNeonatal Screening
dc.subjectPregnancy
dc.subjectPremature Birth
dc.subjectSteroid 21-hydroxylase
dc.titleHeterozygosis For Cyp21a2 Mutation Considered As 21-hydroxylase Deficiency In Neonatal Screening.
dc.typeArtículos de revistas


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