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

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dc.contributor.authorTonetto-Fernandes, Vânia [UNIFESP]
dc.contributor.authorLemos-Marini, Sofia Helena Valente de
dc.contributor.authorMello, Maricilda Palandi de
dc.contributor.authorRibeiro-Neto, Luciane Maria [UNIFESP]
dc.contributor.authorKater, Claudio Elias [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniversidade Estadual de Campinas (UNICAMP)
dc.date.accessioned2018-06-15T18:07:31Z
dc.date.available2018-06-15T18:07:31Z
dc.date.issued2008-05-01
dc.description.abstract21-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.en
dc.description.affiliationUniv Fed Sao Paulo, Dept Med, Steroids Lab, Div Endocrinol, BR-04039032 Sao Paulo, Brazil
dc.description.affiliationUniv Estadual Campinas, Dept Pediat Ciped, Endocrinol Unit, Sao Paulo, Brazil
dc.description.affiliationUniv Estadual Campinas, CBMEG, Sao Paulo, Brazil
dc.description.affiliationUnifespUniv Fed Sao Paulo, Dept Med, Steroids Lab, Div Endocrinol, BR-04039032 Sao Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent487-494
dc.identifierhttps://dx.doi.org/10.1515/JPEM.2008.21.5.487
dc.identifier.citationJournal Of Pediatric Endocrinology & Metabolism. Berlin: Walter De Gruyter Gmbh, v. 21, n. 5, p. 487-494, 2008.
dc.identifier.doi10.1515/JPEM.2008.21.5.487
dc.identifier.issn0334-018X
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/44533
dc.identifier.wosWOS:000257262000013
dc.language.isoeng
dc.publisherWalter De Gruyter Gmbh
dc.relation.ispartofJournal Of Pediatric Endocrinology & Metabolism
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.subjectCongenital adrenal hyperplasiaen
dc.subject21-hydroxylase deficiencyen
dc.subject11 beta-hydroxylase deficiencyen
dc.subjectCombined enzymatic deficienciesen
dc.subject17-hydroxyprogesteroneen
dc.subject11-deoxycortisolen
dc.subject21-deoxycortisolen
dc.title21-hydroxylase deficiency transiently mimicking combined 21- and 11 beta-hydroxylase deficiencyen
dc.typeinfo:eu-repo/semantics/article
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