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Vania Tonetto-Fernandes, Sofia H. V. Lemos-Marini, Hilton Kuperman, Luciane M. Ribeiro-Neto, Ieda T. N. Verreschi, Claudio E. Kater, Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-Deoxycortisol in Classic Congenital Adrenal Hyperplasia: Clinical and Hormonal Correlations and Identification of Patients with 11β-Hydroxylase Deficiency among a Large Group with Alleged 21-Hydroxylase Deficiency, The Journal of Clinical Endocrinology & Metabolism, Volume 91, Issue 6, 1 June 2006, Pages 2179–2184, https://doi.org/10.1210/jc.2005-1890
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Abstract
Introduction: 21-Hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia, followed in frequency by 11β-hydroxylase deficiency (11βOHD). Although the relative frequency of 11βOHD is reported as between 3 and 5% of the cases, these numbers may have been somewhat underestimated.
Materials and Methods: In 133 patients (89 females/44 males; 10 d-20.9 yr) with alleged classic 21OHD and five (three females/two males; 7.3–21 yr) with documented 11βOHD, we measured serum 21-deoxycortisol (21DF), 17-hydroxyprogesterone (17OHP), and 11-deoxycortisol (S), 48 h after glucocorticoid withdrawal. We also studied 20 sex- and age-matched control subjects. Serum steroid levels were determined by RIA after HPLC purification.
Objectives: The objectives of this study were to: 1) quantify 21DF in patients with congenital adrenal hyperplasia, 2) correlate hormonal with clinical data, and 3) identify possible misdiagnosed patients with 11βOHD among those with 21OHD.
Results: In 21OHD, 17OHP (217–100,472 ng/dl) and 21DF (<39–14,105 ng/dl) were mostly elevated and positively correlated (r = 0.7202; P < 0.001). Except for higher 17OHP in pubertal patients, 17OHP and 21DF values were similar according to sex, disease severity, or prevailing glucocorticoid dose. One additional patient with 11βOHD was detected (1%) and also one with apparent combined 11β- and 21OHD. S levels were elevated in 11βOHD and normal but significantly higher in 21OHD than in controls.
Conclusion: To recognize patients with 21- and/or 11βOHD, we recommend evaluation of 17OHP or 21DF and S. Also, 21DF may be useful to follow up pubertal patients with 21OHD. Because 1% of patients with alleged 21OHD may have 11βOHD, its frequency seems underestimated, as per our experience in a Brazilian population.
