46,xx Dsd And Antley-bixler Syndrome Due To Novel Mutations In The Cytochrome P450 Oxidoreductase Gene [dds 46,xx E Síndrome De Antley-bixler Causada Por Novas Mutações No Gene Da Enzima P450 Oxidorredutase]

dc.creatorGuaragna-Filho G.
dc.creatorCastro C.C.T.S.
dc.creatorDe Carvalho R.R.
dc.creatorCoeli F.B.
dc.creatorFerraz L.F.C.
dc.creatorPetroli R.J.
dc.creatorDe Mello M.P.
dc.creatorSewaybricker L.E.
dc.creatorLemos-Marini S.H.V.
dc.creatorD'Souza-Li L.F.R.
dc.creatorMiranda M.L.
dc.creatorMaciel-Guerra A.T.
dc.creatorGuerra-Junior G.
dc.date2012
dc.date2015-06-26T20:28:16Z
dc.date2015-11-26T14:24:12Z
dc.date2015-06-26T20:28:16Z
dc.date2015-11-26T14:24:12Z
dc.date.accessioned2018-03-28T21:26:17Z
dc.date.available2018-03-28T21:26:17Z
dc.identifier
dc.identifierArquivos Brasileiros De Endocrinologia E Metabologia. , v. 56, n. 8, p. 578 - 585, 2012.
dc.identifier42730
dc.identifier10.1590/S0004-27302012000800020
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-84872344642&partnerID=40&md5=e3fd000171ae2c30e7a950986ff38f2e
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/96629
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/96629
dc.identifier2-s2.0-84872344642
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1245329
dc.descriptionDeficiency of the enzyme P450 oxidoreductase is a rare form of congenital adrenal hyperplasia with characteristics of combined and partial impairments in steroidogenic enzyme activities, as P450 oxidoreductase transfers electrons to CYP21A2, CYP17A1, and CYP19A1. It results in disorders of sex development and skeletal malformations similar to Antley-Bixley syndrome. We report the case of a 9-year-old girl who was born with virilized genitalia (Prader stage V), absence of palpable gonads, 46,XX karyotype, and hypergonadotropic hypogonadism. During the first year of life, ovarian cyst, partial adrenal insufficiency, and osteoarticular changes, such as mild craniosynostosis, carpal and tarsal synostosis, and limited forearm pronosupination were observed. Her mother presented severe virilization during pregnancy. The molecular analysis of P450 oxidoreductase gene revealed compound heterozygosis for the nonsense p.Arg223*, and the novel missense p.Met408Lys, inherited from the father and the mother, respectively. © ABEM todos os direitos reservados.
dc.description56
dc.description8
dc.description578
dc.description585
dc.descriptionMiller, W.L., Minireview: Regulation of steroidogenesis by electron transfer (2005) Endocrinology, 146, pp. 2544-2550
dc.descriptionScott, R.R., Gomes, L.G., Huang, N., Van Vliet, G., Miller, W.L., Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency (2007) J Clin Endocrinol Metab, 92, pp. 2318-2322
dc.descriptionAuchus, R.J., Lee, T.C., Miller, W.L., Cytochrome b5 augments the 17,20-lyase activity of human P450c17 without direct electron transfer (1998) J Biol Chem, 273, pp. 3158-3165
dc.descriptionFlück, C.E., Tajima, T., Pandey, A.V., Arlt, W., Okuhara, K., Verge, C.F., Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome (2004) Nat Genet, 36, pp. 228-230
dc.descriptionArlt, W., Walker, E.A., Draper, N., Ivison, H.E., Ride, J.P., Hammer, F., Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: Analytical study (2004) Lancet, 363, pp. 2128-2135
dc.descriptionScott, R.R., Miller, W.L., Genetic and clinical features of P450 oxidoreductase deficiency (2008) Horm Res, 69, pp. 266-275
dc.descriptionPolusani, S.R., Kar, R., Riquelme, M.A., Masters, B.S., Panda, S.P., Regulation of gap junction function and connexin 43 expression by cytochrome P450 oxidoreductase (CYPOR) (2011) Biochem Biophys Res Commun, 411, pp. 490-495
dc.descriptionTomalik-Scharte, D., Maiter, D., Kirchheiner, J., Ivison, H.E., Fuhr, U., Arlt, W., Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency (2010) Eur J Endocrinol, 163, pp. 919-924
dc.description(2012) Human Gene Mutation Database, , http://www.hgmd.cf.ac.uk/ac/index.php, Available at, Accessed on: Nov 17
dc.descriptionFlück, C.E., Pandey, A.V., Clinical and biochemical consequences of P450 oxidoreductase deficiency (2011) Endocr Dev, 20, pp. 63-79
dc.descriptionKrone, N., Reisch, N., Idkowiak, J., Dhir, V., Ivison, H.E., Hughes, B.A., Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency (2012) J Clin Endocrinol Metab, 97, pp. E257-E267
dc.descriptionSambrook, J., Fristsch, E.F., Maniatis, T.E., (1989) Molecular Cloning: A laboratory manual, , Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press
dc.descriptionXia, C., Panda, S.P., Marohnic, C.C., Martásek, P., Masters, B.S., Kim, J.J., Structural basis for human NADPH-cytochrome P450 oxidoreductase deficiency (2011) Proc Natl Acad Sci U S A, 108, pp. 13486-13491
dc.descriptionIdkowiak, J., O'Riordan, S., Reisch, N., Malunowicz, E.M., Collins, F., Kerstens, M.N., Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency (2011) J Clin Endocrinol Metab, 96 (3), pp. E453-E462
dc.descriptionHamdane, D., Xia, C., Im, S.C., Zhang, H., Kim, J.J., Waskell, L., Structure and function of an NADPH-cytochrome P450 oxidoreductase in an open conformation capable of reducing cytochrome P450 (2009) J Biol Chem, 284 (17), pp. 11374-11384
dc.descriptionXia, C., Hamdane, D., Shen, A.L., Choi, V., Kasper, C.B., Pearl, N.M., Conformational changes of NADPH-cytochrome P450 oxidoreductase are essential for catalysis and cofactor binding (2011) J Biol Chem, 286, pp. 16246-16260
dc.descriptionHerkert, J.C., Blaauwwiekel, E.E., Hoek, A., Veenstra-Knol, H.E., Kema, I.P., Arlt, W., A rare cause of congenital adrenal hyperplasia: Antley-Bixler syndrome due to POR deficiency (2011) Neth J Med, 69, pp. 281-283
dc.descriptionFukami, M., Hasegawa, T., Horikawa, R., Ohashi, T., Nishimura, G., Homma, K., Cytochrome P450 oxidoreductase deficiency in three patients initially regarded as having 21-hydroxylase deficiency and/or aromatase deficiency: Diagnostic value of urine steroid hormone analysis (2006) Pediatr Res, 59, pp. 276-280
dc.descriptionFlück, C.E., Miller, W.L., P450 oxidoreductase deficiency: A new form of congenital adrenal hyperplasia (2006) Curr Opin Pediatr, 18, pp. 435-441
dc.descriptionHomma, K., Hasegawa, T., Nagai, T., Adachi, M., Horikawa, R., Fujiwara, I., Urine steroid hormone profile analysis in cytochrome P450 oxidoreductase deficiency: Implication for the backdoor pathway to dihydrotestosterone (2006) J Clin Endocrinol Metab, 91, pp. 2643-2649
dc.descriptionBut, W.M., Lo, I.F., Shek, C.C., Tse, W.Y., Lam, S.T., Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency (2010) Hong Kong Med J, 16, pp. 59-62
dc.descriptionIijima, S., Ohishi, A., Ohzeki, T., Cytochrome P450 oxidoreductase deficiency with Antley-Bixler syndrome: Steroidogenic capacities (2009) J Pediatr Endocrinol Metab, 22, pp. 469-475
dc.descriptionKo, J.M., Cheon, C.K., Kim, G.H., Yoo, H.W., A case of Antley-Bixler syndrome caused by compound heterozygous mutations of the cytochrome P450 oxidoreductase gene (2009) Eur J Pediatr, 168, pp. 877-880
dc.descriptionSahakitrungruang, T., Huang, N., Tee, M.K., Agrawal, V., Russell, W.E., Crock, P., Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients (2009) J Clin Endocrinol Metab, 94, pp. 4992-5000
dc.descriptionAdachi, M., Tachibana, K., Asakura, Y., Yamamoto, T., Hanaki, K., Oka, A., Compound heterozygous mutations of cytochrome P450 oxidoreductase gene (POR) in two patients with Antley-Bixler syndrome (2004) Am J Med Genet A, 128, pp. 333-339
dc.descriptionNew, M.I., Nonclassical congenital adrenal hyperplasia and the polycystic ovarian syndrome (1993) Ann NY Acad Sci, 687, pp. 193-205
dc.descriptionRosa, S., Duff, C., Meyer, M., Lang-Muritano, M., Balercia, G., Boscaro, M., P450c17 deficiency: Clinical and molecular characterization of six patients (2007) J Clin Endocrinol Metab, 92, pp. 1000-1007
dc.descriptionShima, M., Tanae, A., Miki, K., Katsumata, N., Matsumoto, S., Nakajima, S., Mechanism for the development of ovarian cysts in patients with congenital lipoid adrenal hyperplasia (2000) Eur J Endocrinol, 142, pp. 274-279
dc.descriptionBelgorosky, A., Pepe, C., Marino, R., Guercio, G., Saraco, N., Vaiani, E., Hypothalamic-pituitary-ovarian axis during infancy, early and late prepuberty in an aromatase-deficient girl who is a compound heterozygote for two new point mutations of the CYP19 gene (2003) J Clin Endocrinol Metab, 88, pp. 5127-5131
dc.descriptionFukami, M., Horikawa, R., Nagai, T., Tanaka, T., Naiki, Y., Sato, N., Cytochrome P450 oxidoreductase gene mutations and Antley-Bixler syndrome with abnormal genitalia and/or impaired steroidogenesis: Molecular and clinical studies in 10 patients (2005) J Clin Endocrinol Metab, 90, pp. 414-426
dc.descriptionGrondahl, C., Hansen, T.H., Marky-Nielsen, K., Ottesen, J.L., Hyttel, P., Human oocyte maturation in vitro is stimulated by meiosis-activating sterol (2000) Hum Reprod, 15 (SUPPL. 5), pp. 3-10
dc.languageen
dc.languagept
dc.publisher
dc.relationArquivos Brasileiros de Endocrinologia e Metabologia
dc.rightsaberto
dc.sourceScopus
dc.title46,xx Dsd And Antley-bixler Syndrome Due To Novel Mutations In The Cytochrome P450 Oxidoreductase Gene [dds 46,xx E Síndrome De Antley-bixler Causada Por Novas Mutações No Gene Da Enzima P450 Oxidorredutase]
dc.typeArtículos de revistas


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