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

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

Author Tonetto-Fernandes, Vânia Autor UNIFESP Google Scholar
Lemos-Marini, Sofia Helena Valente de Google Scholar
Mello, Maricilda Palandi de Google Scholar
Ribeiro-Neto, Luciane Maria Autor UNIFESP Google Scholar
Kater, Claudio Elias Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Universidade Estadual de Campinas (UNICAMP)
Abstract 21-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.
Keywords Congenital adrenal hyperplasia
21-hydroxylase deficiency
11 beta-hydroxylase deficiency
Combined enzymatic deficiencies
Language English
Date 2008-05-01
Published in Journal Of Pediatric Endocrinology & Metabolism. Berlin: Walter De Gruyter Gmbh, v. 21, n. 5, p. 487-494, 2008.
ISSN 0334-018X (Sherpa/Romeo, impact factor)
Publisher Walter De Gruyter Gmbh
Extent 487-494
Origin https://dx.doi.org/10.1515/JPEM.2008.21.5.487
Access rights Closed access
Type Article
Web of Science ID WOS:000257262000013
URI https://repositorio.unifesp.br/11600/44533

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