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Serum 21-Deoxycortisol, 17-Hydroxyprogesterone, and 11-Deoxycortisol in Classic Congenital Adrenal Hyperplasia: Clinical and Hormonal Correlations and Identification of Patients with 11ß-Hydroxylase Deficiency among a Large Group with Alleged 21-Hydroxylase Deficiency

Division of Endocrinology (V.T.-F., L.M.R.-N., I.T.N.V., C.E.K.), Department of Medicine, Universidade Federal de Sao Paulo, 04039-032 Sao Paulo, Brazil; Pediatric Endocrinology Service (V.T.-F.), Hospital Infantil Darcy Vargas 05614-040 Sao Paulo, Brazil; Division of Pediatric Endocrinology (S.H.V.L.-M.), Department of Pediatrics, Universidade de Campinas, 13083-100 Campinas, Sao Paulo, Brazil; and Division of Pediatric Endocrinology (H.K.), Instituto da Criança, Universidade de Sao Paulo, 05403-900 Sao Paulo, Brazil

Address all correspondence and requests for reprints to: Claudio E. Kater, M.D., Steroids Laboratory, Division of Endocrinology, Universidade Federal de Sao Paulo, Rua Pedro de Toledo, 781-13 andar, SP 04039-032 Sao Paulo, Brazil. E-mail: kater{at}endocrino.epm.br.

Introduction: 21-Hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia, followed in frequency by 11ß-hydroxylase deficiency (11ßOHD). Although the relative frequency of 11ßOHD 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 11ßOHD, 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 11ßOHD 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 11ßOHD was detected (1%) and also one with apparent combined 11ß- and 21OHD. S levels were elevated in 11ßOHD and normal but significantly higher in 21OHD than in controls.

Conclusion: To recognize patients with 21- and/or 11ßOHD, 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 11ßOHD, its frequency seems underestimated, as per our experience in a Brazilian population.

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