21-hydroxylase deficiency transiently mimicking combined 21- and 11 beta-hydroxylase deficiency

dc.creatorTonetto-Fernandes, V
dc.creatorLemos-Marini, SHV
dc.creatorDe Mello, MP
dc.creatorRibeiro, LM
dc.creatorKater, CE
dc.date2008
dc.dateMAY
dc.date2014-07-30T13:38:46Z
dc.date2015-11-26T16:33:36Z
dc.date2014-07-30T13:38:46Z
dc.date2015-11-26T16:33:36Z
dc.date.accessioned2018-03-28T23:15:32Z
dc.date.available2018-03-28T23:15:32Z
dc.identifierJournal Of Pediatric Endocrinology & Metabolism. Walter De Gruyter Gmbh, v. 21, n. 5, n. 487, n. 494, 2008.
dc.identifier0334-018X
dc.identifier2191-0251
dc.identifierWOS:000257262000013
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/52570
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/52570
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1270915
dc.description21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11 beta OHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 210HD and 11 beta OHD (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 (17OHP; 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 17OHP and 21DF were still elevated. ACTH stimulation disclosed elevated levels of 17OHP 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 occurred by enzyme or co-enzyme immaturity or functional discrepancy, but also by selective inhibition of 11 beta-OH by excess intra-adrenal concentration of androgens, acting as pseudo-substrates for this enzyme.
dc.descriptiono TEXTO COMPLETO DESTE ARTIGO, ESTARÁ DISPONÍVEL À PARTIR DE AGOSTO DE 2015.
dc.description21
dc.description5
dc.description487
dc.description494
dc.languageen
dc.publisherWalter De Gruyter Gmbh
dc.publisherBerlin
dc.publisherAlemanha
dc.relationJournal Of Pediatric Endocrinology & Metabolism
dc.relationJ. Pediatr. Endocrinol. Metab.
dc.rightsembargo
dc.sourceWeb of Science
dc.subjectcongenital adrenal hyperplasia
dc.subject21-hydroxylase deficiency
dc.subject11 beta-hydroxylase deficiency
dc.subjectcombined enzymatic deficiencies
dc.subject17-hydroxyprogesterone
dc.subject11-deoxycortisol
dc.subject21-deoxycortisol
dc.subjectCongenital Adrenal-hyperplasia
dc.subjectMutant P450 Oxidoreductase
dc.subject11 Beta-hydroxylation
dc.subjectSteroid 21-hydroxylase
dc.subjectPlasma 21-deoxycortisol
dc.subjectAdrenogenital Syndrome
dc.subjectAndrogen Synthesis
dc.subjectClassical Form
dc.subjectGene
dc.subject11-deoxycortisol
dc.title21-hydroxylase deficiency transiently mimicking combined 21- and 11 beta-hydroxylase deficiency
dc.typeArtículos de revistas


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