Gönç E Nazli, Ozön Z Alev, Alikaşifoğlu Ayfer, Engiz Ozlem, Bulum Burcu, Kandemir Nurgün
Division of Pediatric Endocrinology, Department of Pediatrics, Hacettepe University, Faculty of Medicine, Ankara, Turkey.
Turk J Pediatr. 2011 May-Jun;53(3):274-80.
To determine the critical features for the diagnosis of nonclassical 21 hydroxylase deficiency (NC210HD) without performing adrenocorticotropic hormone (ACTH) test, we studied 186 cases with premature adrenarche. Clinical and laboratory features as well as basal 17-hydroxyprogesterone (17-OHP) were analyzed to determine factors important for differentiating NC21OHD. Overall, 6 patients (3.2%) had ACTH-stimulated 17-OHP > 10 ng/ml. A cutoff level of 2 ng/ml for basal 17-OHP was 66.7% sensitive and 78% specific for NC21OHD; however, a cutoff level of 1.55 ng/ml had higher sensitivity (83%) and specificity (70.6%). A cutoff of 1.55 ng/ml would lead to 31% of cases with premature adrenarche having to undergo ACTH test, and only one case would have been missed. That case had a bone age SDS > 2. Three cases out of five with a basal 17-OHP > 5 ng/ml had stimulated 17-OHP < 10 ng/ml. A cutoff of 1.55 ng/ml for basal 17-OHP together with bone SDS > 2 in those with lower basal levels as a guide for carrying out an ACTH test may yield better results in the diagnosis of NC21OHD in the premature adrenarche population. A cutoff of 5 ng/ml for basal 17-OHP should not be used for diagnosis of NC21OHD.
为了在不进行促肾上腺皮质激素（ACTH）试验的情况下确定非经典21-羟化酶缺乏症（NC210HD）诊断的关键特征，我们研究了186例肾上腺早现患者。分析临床和实验室特征以及基础17-羟孕酮（17-OHP），以确定区分NC21OHD的重要因素。总体而言，6例患者（3.2%）ACTH刺激后的17-OHP>10 ng/ml。基础17-OHP的临界值为2 ng/ml时，对NC21OHD的敏感性为66.7%，特异性为78%；然而，临界值为1.55 ng/ml时具有更高的敏感性（83%）和特异性（70.6%）。临界值为1.55 ng/ml会导致31%的肾上腺早现病例需要进行ACTH试验，且只会漏诊1例。该病例的骨龄标准差（SDS）>2。基础17-OHP>5 ng/ml的5例患者中有3例刺激后的17-OHP<10 ng/ml。基础17-OHP临界值为1.55 ng/ml，同时将基础水平较低者的骨龄SDS>2作为进行ACTH试验的指导，可能会在肾上腺早现人群的NC21OHD诊断中产生更好的结果。基础17-OHP临界值为5 ng/ml不应用于NC21OHD的诊断。
