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Type: Artigo de periódico
Title: 21-hydroxylase Deficiency Transiently Mimicking Combined 21- And 11β-hydroxylase Deficiency
Author: Tonetto-Fernandes V.
Lemos-Marini S.H.V.
De Mello M.P.
Ribeiro-Neto L.M.
Kater C.E.
Abstract: 21-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.
Rights: fechado
Identifier DOI: 
Date Issue: 2008
Appears in Collections:Unicamp - Artigos e Outros Documentos

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