Department of Woman, Child and of General and Specialized Surgery, Università degli Studi della Campania "Luigi Vanvitelli", Via Luigi De Crecchio 2, 80138, Napoli, Italy.
Pediatr Res. 2018 Oct;84(4):533-536. doi: 10.1038/s41390-018-0096-7. Epub 2018 Jul 6.
Basal levels of androgens, in particular 17-hydroxyprogesterone (17OHP), are widely debated as predictors of non-classical congenital adrenal hyperplasia (NCCAH) among patients with precocious pubarche (PP). Many authors have recommended the use of adrenocorticotropic hormone (ACTH) stimulation test in children with PP. The aim of our study was to identify clinical and biochemical predictors of NCCAH in children with PP.
We conducted a prospective study of 92 patients with PP undergoing an ACTH stimulation test. We tested the association of basal clinical and biochemical parameters with NCCAH diagnosis. Patients were suspected to have NCCAH if their stimulated 17OHP plasma levels were >10 ng/mL. In these patients, the diagnosis was confirmed by genetic test.
Seven (7.6%) patients resulted having NCCAH. The best basal biochemical predictor for NCCAH was 17OHP level >2 ng/mL. In fact, a basal 17OHP level >2 ng/mL had 100% (95% confidence interval (CI), 59.04-100) sensitivity and 93% (95% CI, 85.3-97.37) specificity. The area under the receiver-operating characteristic curve for 17OHP was 0.99 (95% CI, 0.98-1.007).
Basal 17OHP cut-off of 2 ng/mL was very effective in predicting NCCAH among our patients with PP. Assay-specific cut-off would probably be the best strategy to avoid unnecessary ACTH test.
雄激素的基础水平，尤其是 17-羟孕酮（17OHP），被广泛认为是性早熟性阴毛早现（PP）患者中非经典先天性肾上腺增生（NCCAH）的预测指标。许多作者建议对 PP 患儿进行促肾上腺皮质激素（ACTH）刺激试验。我们的研究目的是确定 PP 患儿中 NCCAH 的临床和生化预测指标。
我们对 92 例接受 ACTH 刺激试验的 PP 患儿进行了前瞻性研究。我们检测了基础临床和生化参数与 NCCAH 诊断的相关性。如果患儿的刺激后 17OHP 血浆水平>10ng/ml，则怀疑患有 NCCAH。在这些患者中，通过基因检测确诊。
7 例（7.6%）患儿被诊断为 NCCAH。NCCAH 的最佳基础生化预测指标是 17OHP 水平>2ng/ml。事实上，基础 17OHP 水平>2ng/ml 的敏感性为 100%（95%可信区间（CI），59.04-100），特异性为 93%（95%CI，85.3-97.37）。17OHP 的受试者工作特征曲线下面积为 0.99（95%CI，0.98-1.007）。
在我们的 PP 患儿中，基础 17OHP 截断值为 2ng/ml 非常有效，可以预测 NCCAH。特定检测的截断值可能是避免不必要的 ACTH 检测的最佳策略。
