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

dc.creatorSoardi F.C.
dc.creatorSofia H.V.L.-M.
dc.creatorCoeli F.B.
dc.creatorMaturana V.G.
dc.creatorDa Silva M.D.B.
dc.creatorBernardi R.D.
dc.creatorJusto G.Z.
dc.creatorMaricilda P.D.-M.
dc.date2008
dc.date2015-06-30T19:24:00Z
dc.date2015-11-26T14:28:15Z
dc.date2015-06-30T19:24:00Z
dc.date2015-11-26T14:28:15Z
dc.date.accessioned2018-03-28T21:31:25Z
dc.date.available2018-03-28T21:31:25Z
dc.identifier
dc.identifierArquivos Brasileiros De Endocrinologia E Metabologia. , v. 52, n. 8, p. 1388 - 1392, 2008.
dc.identifier42730
dc.identifier
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-58849132873&partnerID=40&md5=ae8506f32697b9de5014c9a5603ccf42
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/106067
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/106067
dc.identifier2-s2.0-58849132873
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1246544
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.V281 L 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.description8
dc.description1388
dc.description1392
dc.descriptionWhite, P.C., Speiser, P.W., Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (2000) Endocr Rev, 21, pp. 245-291
dc.descriptionRiepe, F.G., Sippell, W.G., Recent advances in diagnosis, treatment, and outcome of congenital adrenal hyperplasia due to 21-hydroxylase deficiency (2007) Rev Endocr Metab Disord, 8 (4), pp. 349-363
dc.descriptionNew, M., Lorenzen, F., Lerner, A.J., Kohn, B., Oberfield, S.E., Pollack, M.S., Genotyping steroid 21-hydroxylase deficiency: Hormonal reference data (1983) J Clin Endocrinol Metab, 57, pp. 320-326
dc.descriptionAzziz, R., Hincapie, L.A., Knochenhauer, E.S., Dewailly, D., Fox, L., Boots, L.R., Screening for 21-hydroxylase-deficient nonclassic adrenal hyperplasia among hyperandrogenic women (1999) Fertil Steril, 72, pp. 915-925
dc.descriptionBachega, T.A., Brenlha, E.M., Billerbeck, A.E., Marcondes, J.A., Madureira, G., Arnhold, I.J., Mendonca, B.B., Variable ACTH-stimulated 17-hydroxyprogesterone values in 21-hydroxylase deficiency carriers are not related to the different CYP21 gene mutations (2002) J Clin Endocrinol Metab, 87 (2), pp. 786-790
dc.descriptionPang, S., Hotchkiss, J., Drash, A.L., Levine, L.S., New, M., Microfilter paper method for 17-hydroxyprogesterone radioimmunoassay: Its application for rapid screening for congenital adrenal hyperplasia (1977) J Clin Endocrinol Metab, 45, pp. 1003-1008
dc.descriptionValentino, R., Tommaselli, A.P., Rossi, R., Lombardi, G., Varrone, S., A pilot study for neonatal screening of congenital adrenal hyperplasia due to 21-hydroxylase and 11-hydroxylase deficiency in Campania region (1990) J Endocrinol lnvest, 13, pp. 221-225
dc.descriptionJanzen, N., Peter, M., Sander, S., Steuerwald, U., Terhardt, M., Holtkamp, U., Sander, J., Newborn screening for congenital adrenal hyperplasia: Additional steroid profile using liquid chromatography-tandem mass spectrometry (2007) J Clin Endocrinol Metab, 92 (7), pp. 2581-2589
dc.descriptionPang, S., Murphey, W., Levine, L.S., Lorenzen, F., Levy, D., Lerner, A.J., Rondanini, G.F., New, M., A pilot newborn screening for congenital adrenal hyperplasia in Alaska (1982) J Clin Endocrinol Metab, 55, pp. 413-420
dc.descriptionNordenström, A., Wedell, A., Hagenfeldt, L., Marcus, C., Larsson, A., Neonatal screening for congenital adrenal hyperplasia: 17-hydroxyprogesterone levels and CYP21 genotypes in preterm infants (2001) Pediatrics, 108 (4), pp. E68
dc.descriptionCardoso, C.B., Fonseca, A.A., Oliveira Mde, F., Pereira, B.B., Guimarães, M.M., Congenital adrenal hyperplasia newborn screening: Rio de Janeiro experience. Arq Bras Endocrinol (2005) Metabol, 49 (1), pp. 112-119
dc.descriptionSilveira, EL, D.S., Bachega, T.A., van der, Linden Nader, I., Gross, J.L., Elnecave, R.H., The actual incidence of congenital adrenal hyperplasia in Brazil may not be as high as inferred-an estimate based on a public neonatal screening program in the state of Goiás (2008) J Pediatr Endocrinol Metab, 21 (5), pp. 455-460
dc.descriptionSambrook, J., Fritsch, E.F., Maniatis, T.E., (1989) Molecular Cloning, a Laboratory Manual, , New York: Cold Spring Harbor
dc.descriptionAraujo, M., Sanches, M.R., Suzuki, L.A., Guerra-Jr, G., Farah, S.B., De Mello, M.P., Molecular analysis of CYP21 and C4 genes in Brazilian families with the classical form of steroid 21-hydroxylase deficiency (1996) Braz J Med Biol Res, 29, pp. 1-13
dc.descriptionWilson, R.C., Wei, J.Q., Cheng, K.C., Mercado, A.B., New, M., Rapid deoxyribonucleic acid analysis by allele-specific polymerase chain reaction for detection of mutations in the steroid 21-hydroxylase gene (1995) J Clin Endocrinol Metab, 80 (5), pp. 1635-1640
dc.descriptionLau, I.F., Soardi, F.C., Lemos-Marini, S.H., Guerra-Jr, G., Baptista, M.T., De Mello, M.P., H28+C insertion in the CYP21 gene: A novel frameshift mutation in Brazilian patient with the classical form of 21-hydroxylase deficiency (2001) J Clin Endocrinol Metab, 86, pp. 5877-5880
dc.descriptionHigashi, Y., Yoshioka, H., Yamane, M., Gotoh, O., Fujii-Kuriyama, Y., Complete nucleotide sequence of two steroid 21-hydroxylase genes tandemly arranged in human chromosome: A pseudogene and a genuine gene (1986) Proc Natl Acad Sci USA, 83, pp. 2841-2845
dc.descriptionWilson, R.C., Nimkarn, S., Dumic, M., Obeid, J., Azar, M.R., Najmabadi, H., Ethnic-specific distribution of mutations in 716 patients with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency (2007) Mol Genet Metab, 90 (4), pp. 414-421
dc.descriptionTusie-Luna, M.T., Traktman, P., White, P.C., Determination of functional effects of mutations in the steroid 21-hydroxylase gene (CYP21) using recombinant vaccinia virus (1990) J Biol Chem, 265 (34), pp. 20916-20922
dc.descriptionHigashi, Y., Hiromasa, T., Tanae, A., Miki, T., Nakura, J., Kondo, T., Effects of individual mutations in the P-450(C21) pseudogene on the P-450(C21) activity and their distribution in the patient genomes of congenital steroid 21-hydroxylase deficiency (1991) J Biochem, 109 (4), pp. 638-644
dc.descriptionBachega, T.A., Billerbeck, A.E., Madureira, G., Marcondes, J.A., Longui, C.A., Leite, M.V., Molecular genotyping in Brazilian patients with the classical and nonclassical forms of 21-hydroxylase deficiency (1998) J Clin Endocrinol Metab, 83 (12), pp. 4416-4419
dc.languageen
dc.publisher
dc.relationArquivos Brasileiros de Endocrinologia e Metabologia
dc.rightsaberto
dc.sourceScopus
dc.titleHeterozygosis For Cyp21a2 Mutation Considered As 21-hydroxylase Deficiency In Neonatal Screening
dc.typeArtículos de revistas


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