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

Journal of pediatric endocrinology & metabolism : JPEM (2008-07-29)
Vânia Tonetto-Fernandes, Sofia H V Lemos-Marini, Maricilda P De Mello, Luciane M Ribeiro-Neto, Claudio E Kater
RESUMEN

21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11betaOHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 21OHD and 11betaOHD (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-hydroxyprogesterone (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 11betaOH by excess intra-adrenal concentration of androgens, acting as pseudo-substrates for this enzyme.

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Supelco
21-Deoxycortisol solution, 100 μg/mL in methanol, ampule of 1 mL, certified reference material, Cerilliant®
Sigma-Aldrich
21-Deoxycortisol