Abstract |
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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Authors | Vânia Tonetto-Fernandes, Sofia H V Lemos-Marini, Maricilda P De Mello, Luciane M Ribeiro-Neto, Claudio E Kater |
Journal | Journal of pediatric endocrinology & metabolism : JPEM
(J Pediatr Endocrinol Metab)
Vol. 21
Issue 5
Pg. 487-94
(May 2008)
ISSN: 0334-018X [Print] Germany |
PMID | 18655532
(Publication Type: Case Reports, Journal Article, Review)
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Chemical References |
- Androstenedione
- 21-deoxycortisol
- Steroid 21-Hydroxylase
- Steroid 11-beta-Hydroxylase
- Cortodoxone
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Topics |
- Adrenal Hyperplasia, Congenital
(diagnosis, genetics)
- Androstenedione
(blood)
- Child
- Cortodoxone
(blood)
- Diagnosis, Differential
- Female
- Humans
- Mutation
(genetics)
- Steroid 11-beta-Hydroxylase
(genetics)
- Steroid 21-Hydroxylase
(genetics)
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