21-Hydroxylase Deficiency Transiently Mimicking Combined 21- and 11β-Hydroxylase Deficiency
| Autor: | Claudio E. Kater, Sofia Helena Valente de Lemos-Marini, Luciane M. Ribeiro-Neto, Maricilda Palandi de Mello, Vânia F. Tonetto-Fernandes |
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| Rok vydání: | 2008 |
| Předmět: |
medicine.medical_specialty
Endocrinology Diabetes and Metabolism Cortodoxone Diagnosis Differential Endocrinology Internal medicine medicine Humans Congenital adrenal hyperplasia Androstenedione Steroid 11-beta-hydroxylase Child Gene chemistry.chemical_classification Adrenal Hyperplasia Congenital biology Hydroxylase deficiency business.industry 21-Hydroxylase medicine.disease Enzyme chemistry Mutation Pediatrics Perinatology and Child Health biology.protein Steroid 11-beta-Hydroxylase Female Steroid 21-Hydroxylase business Hormone |
| Zdroj: | Journal of Pediatric Endocrinology and Metabolism. 21 |
| ISSN: | 2191-0251 0334-018X |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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