21-hydroxylase Deficiency Transiently Mimicking Combined 21- And 11β-hydroxylase Deficiency

dc.creatorTonetto-Fernandes V.
dc.creatorLemos-Marini S.H.V.
dc.creatorDe Mello M.P.
dc.creatorRibeiro-Neto L.M.
dc.creatorKater C.E.
dc.date2008
dc.date2015-06-30T19:18:56Z
dc.date2015-11-26T14:41:58Z
dc.date2015-06-30T19:18:56Z
dc.date2015-11-26T14:41:58Z
dc.date.accessioned2018-03-28T21:49:17Z
dc.date.available2018-03-28T21:49:17Z
dc.identifier
dc.identifierJournal Of Pediatric Endocrinology And Metabolism. , v. 21, n. 5, p. 487 - 494, 2008.
dc.identifier0334018X
dc.identifier
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-46049112032&partnerID=40&md5=e772bc6e18567c638579117bcf5769f5
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/105722
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/105722
dc.identifier2-s2.0-46049112032
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1251079
dc.description21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11βOHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 21OHD and 11βOHD (AC21,11OHD) have been occasionally reported. A 6 year-old girl, born with ambiguous genitalia and salt-loss, had serum elevations (ng/dl) of androstenedione (>1,000), 17-hydroxy-progesterone (170HP; 38,483), 21-deoxycortisol (21DF; 23,338), and 11-deoxycortisol (S; 4,928), suggesting AC21,11OHD. CYP21A and CYP11B1 genotyping identified mutations only in the former. On follow-up, serum S became normal but 170HP and 21DF were still elevated. ACTH stimulation disclosed elevated levels of 170HP and 21DF, but unresponsive S and undetectable deoxycorticosterone. The hormonal pattern initially suggested AC21,11OHD), but subsequent normalization of S showed transient 11-hydroxylase inhibition. This may have or curred by enzyme or co-enzyme immaturity or functional discrepancy, but also by selective inhibition of 11β-OH by excess intra-adrenal concentration of androgens, acting as pseudo-substrates for this enzyme. © Freund Publishing House Ltd., London.
dc.description21
dc.description5
dc.description487
dc.description494
dc.descriptionHolcombe, J.H., Keenan, B.S., Nichols, B.L., Kirkland, R.T., Clayton, G.W., Neonatal salt loss in the hypertensive form of congenital adrenal hyperplasia (1980) Pediatrics, 65, pp. 777-780
dc.descriptionZachmann, M., Tassinari, D., Prader, A., Clinical and biochemical variability of congenital adrenal hyperplasia due to 11β-hydroxylase deficiency. A study of 25 patients (1983) J Clin Endocrinol Metabol, 56, pp. 222-229
dc.descriptionFiet, J., Boudi, A., Giton, F., Villette, J.M., Boudou, P., Soliman, H., Morineau, G., Galons, H., Plasma 21-deoxycortisol: Comparison of a time-resolved flubro-immunoassay using a biotinylated tracer with a radio-immunoassay using 125-iodine (2000) J Steroid Biochem Mol Biol, 72, pp. 55-60
dc.descriptionGandy, H.M., Keutmann, E.H., Izzo, A.J., Characterization of urinary steroids in adrenal hyperplasia: Isolation of metabolites of cortisol, compound S, and deoxycorticosterone from a normotensive patient with adrenogenital syndrome (1960) J Clin Invest, 39, pp. 364-377
dc.descriptionMaschler, I., Weidenfeld, J., Muller, A., Slavin, S., Shaefer, J., Chovers, J., Finkelstein, M., A case of adrenogenital syndrome with aberrant 11β-hydroxylation (1977) Acta Endocrinol (Copenh), 85, pp. 832-830
dc.descriptionFukushima, D.K., Nishina, T., Wu, R.H.K., Hellman, L., Finkelstein, J.W., Rapid assay of plasma 21-deoxy-cortisol and 11-deoxycortisol in congenital adrenal hyperplasia (1979) Clin Endocrinol, 10, pp. 367-375
dc.descriptionKolanowski, J., Crabbe, J., Defective 11β-hydroxylation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (1981) Ann Endocrinol (Paris), 42, pp. 537-538
dc.descriptionFinkelstein, M., Litvin, Y., Mizrachi, Y., Neiman, G., Rosler, A., Apparent double defect in C11β- and C21-steroid hydroxylation in congenital adrenal hyperplasia (1983) J Steroid Biochem, 19, pp. 675-681
dc.descriptionHurwitz, A., Brautbar, C., Milwidsky, A., Vecsei, P., Milewitz, A., Navot, D., Rosler, A., Combined 21- and 11β-hydroxylase deficiency in familial congenital adrenal hyperplasia (1985) J Clin Endocrinol Metabol, 60, pp. 631-637
dc.descriptionPenny, R., Vecsei, P., Congenital adrenal hyperplasia due to combined 21- and 11β-hydroxylase deficiency (1989) J Endocrinol Invest, 12, pp. 723-728
dc.descriptionGillis, D., Speiser, P., Zhou, Z., Rolsler, A., Combined 21-hydroxylase and 11β-hydroxylaoe deficiency: Patient report and molecular basis (2000) J Pediatr Endocrinol Metab, 13, pp. 945-949
dc.descriptionFernandes, V.T., Ribeiro-Neto, L.M., Vieira, J.G.H., Verreschi, I.T.N., Fiet, J., Kater, C.E., Radioimmunoassay for serum 21-deoxycortisol and its clinical application in congenital adrenal hyperplasia (2003) Arq Bras Endocrinol Metab, 47, pp. 171-176. , in Portuguese
dc.descriptionFernandes, V.T., Ribeiro-Neto, L.M., Lima, S.B., Vieira, J.G.H., Verreschi, I.T.N., Kater, C.E., Reversed-phase high-performance liquid chromatography separation of adrenal steroids prior to radioimmunoassay: Application in congenital adrenal hyperplasia (2003) J Chromatog Sci, 41, pp. 251-254
dc.descriptionPaulino, L.C., Araujo, M., Guerra Jr, G., Marini, S.H., De Mello, M.P., Mutation distribution and CYP21/C4 locus variability in Brazilian families with the classical form of the 21-hydroxylase deficiency (1999) Acta Paediatr, 88, pp. 275-283
dc.descriptionWilson, R.C., Wei, J.Q., Cheng, K.C., Mercado, A.B., New, M.I., 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, pp. 1635-1640
dc.descriptionDe Carvalho, C.E., Castro, M., Moreira, A.C., de Mello, M.P., CYP11B1 intragenic polymorphisms give evidence for a different Q356X allele in an Afican-Brazilian patient (1999) J Endocr Genet, 1, pp. 79-86
dc.descriptionWhite, P.C., Speiser, P.W., Congenital adrenal hyperplasia due to 21-hydroxylase deficiency (2000) Endocr Rev, 21, pp. 245-291
dc.descriptionCarroll, M.C., Palsdottir, A., Belt, K.T., Porter, R.R., Deletion of complement C4 and steroid 21-hydroxylase genes in the HLA class III region (1985) EMBO J, 4, pp. 2547-2552
dc.descriptionDonohoue, P.A., Van Dop, C., McLean, R.H., White, P.C., Jospe, N., Migeon, C.J., Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein (1986) J Clin Endocrinol Metab, 62, pp. 995-1002
dc.descriptionGrischuk, Y., Rubtsov, P., Riepe, F.G., Grötzinger, J., Beljelarskaia, S., Prasgolov, V., Kalintchenko, N., Krone, N., Four novel missense mutations in the CYP21A2 gene detected in Russian patients suffering from the classical form of congenital adrenal hyperplasia: Identification, functional characterization, and structural analysis (2006) J Clin Endocrinol Metab, 91, pp. 4976-4980
dc.descriptionTonetto-Fernandes, V., Lemos-Marini, S.H.V., Kuperman, H., Ribeiro-Neto, L.M., Verreschi, I.T.N., Kater, C.E., Serum 21-deoxycortisol, 17-hydroxyprogesteione, and 11-deoxycortisol in classic congenital adrenal hyperplasia: Clinical and hormonal correlations and identification of patients with 11β-hydroxylase deficiency among a large group with alleged 21-hydroxylase deficiency (2006) J Clin Endocrinol Metab, 91, pp. 2179-2184
dc.descriptionFukami, M., Hasegawa, T., Horikawa, I., Ohashi, T., Nishimura, G., Homma, K., Ogata, T., 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., Tajima, T., Pandey, A.V., Arlt, W., Okuhara, K., Verge, C.F., Jabs, E.W., Miller, W.L., 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., Chalder, S.M., Schackleton, C.H., Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: Analytical study (2004) Lancet, 363, pp. 2128-2135
dc.descriptionDall'Asta, C., Barbetta, L., Lib, Passini, E., Ambrosi, B., Coexistence of 21-hydroxylase and 11β-hydroxylase deficiency in adrenal incidentalomas. and in subclinical Cushing's syndrome (2002) Horm Res, 57, pp. 192-196
dc.descriptionHornsby, P.J., Regulation of 21-hydroxylase activity by steroids in cultured bovine adrenocortical cells: Possible significance for adrenocortical androgen synthesis (1982) Endocrinology, 111, pp. 1092-1101
dc.descriptionKater, C.E., Czepielewski, M.A., Biglieri, E.G., Androgen-and estrogen-producing adrenocortical tumors causing hypertension (1990) Endocrine Hypertension, pp. 195-206. , Biglieri EG, ed, New York: Raven Press
dc.descriptionKater, C.E., Tonetto-Fernandes, V.F., Ribeiro-Neto, L.M., Lemos-Marini, S., Kuperman, H., Partial inhibition of 11β-hydroxylation in the classic 21-hydroxylase deficiency form of congenital adrenal hyperplasia (2004) 86th Annual Meeting of The Endocrine Society, 272. , Abst P 1-476
dc.descriptionNamiki, M., Koh, E., Meguro, N., Kondoh, N., Kiyohara, H., Okuyama, A., Sakoda, S., Sonoda, T., Extraadrenal expression of steroid 21-hydroxylase and 11β-hydroxylase by a benign testicular Leydig cell tumor (1991) J Steroid Biochem Mol Biol, 39, pp. 897-901
dc.languageen
dc.publisher
dc.relationJournal of Pediatric Endocrinology and Metabolism
dc.rightsfechado
dc.sourceScopus
dc.title21-hydroxylase Deficiency Transiently Mimicking Combined 21- And 11β-hydroxylase Deficiency
dc.typeArtículos de revistas


Este ítem pertenece a la siguiente institución