Supplemental Tables and Figure (Bordeira NB et al. "Genotype-refined 17OHP Cut-Offs Diagnosing Non-classical CAH due to 21OH Deficiency in Children with Premature Pubarche"

Supplemental Figure 1. Diagnostic utility of basal and post ACTH 17-hydroxypregnenolone (17OHP) levels to identify subsequent clinical progression in patients with premature pubarche in the following 12 months. A basal cut-off of 118 ng/dL (3.6nmol/L) showed 100% sensitivity and 84% specificity, while 410 ng/dL (12.4nmol/L) maintained 100% specificity and 75% sensitivity. The optimal diagnostic balance was achieved at a cutoff of 170 ng/dL (5.1nmol/L; sensitivity 97%, specificity 91%). A post-ACTH 17OHP of 1,104 ng/dL (33.4nmol/L) provided 100% sensitivity and 100% specificity. Supplemental Table 1. Basal and post-ACTH 17OHP and cortisol concentrations, CYP21A2 genotypes, and genotype group classification in 21OHD-NCAH children. Distribution of post-ACTH cortisol responses according to genotype group in 21OHD-NCAH group. Supplemental Table 2. Diagnostic performance of basal 17OHP concentrations for identifying 21OHD-NCAH among children with PP, according to cutoff values derived from ROC curve analysis. Supplemental Table 3. Clinical, demographic, and hormonal profiles between molecular control and biochemical control subgroups. Supplemental Table 4. Nutritional status and height classification based on BMI- and height-for-age z-scores according to WHO criteria in patients of molecular and biochemical control subgroups.补充图1. 基础及促肾上腺皮质激素（Adrenocorticotropic Hormone, ACTH）刺激后17-羟孕烯醇酮（17-hydroxypregnenolone, 17OHP）水平对早发性阴毛早现（premature pubarche, PP）患者未来12个月内临床进展的识别效能。基础截断值118 ng/dL（3.6nmol/L）的敏感性为100%，特异性为84%；而410 ng/dL（12.4nmol/L）可维持100%特异性，敏感性为75%。在截断值170 ng/dL（5.1nmol/L；敏感性97%，特异性91%）时可达到最优诊断平衡点。促肾上腺皮质激素刺激后17-羟孕烯醇酮水平为1104 ng/dL（33.4nmol/L）时，敏感性与特异性均为100%。 补充表1. 21羟化酶缺陷型非典型先天性肾上腺皮质增生症（21OHD-NCAH）患儿的基础及促肾上腺皮质激素刺激后17-羟孕烯醇酮、皮质醇浓度，细胞色素P450 21A2（CYP21A2）基因型及基因型分组情况，以及21OHD-NCAH组中按基因型分组的促肾上腺皮质激素刺激后皮质醇应答分布。 补充表2. 基于受试者工作特征曲线（Receiver Operating Characteristic, ROC）分析得到的截断值，评估基础17-羟孕烯醇酮水平对早发性阴毛早现（PP）患儿中21羟化酶缺陷型非典型先天性肾上腺皮质增生症（21OHD-NCAH）的识别诊断效能。 补充表3. 分子控制亚组与生化控制亚组患者的临床、人口统计学及激素谱特征差异。 补充表4. 针对分子控制及生化控制亚组患者，依据世界卫生组织（World Health Organization, WHO）标准，基于体重指数年龄别Z评分与身高年龄别Z评分的营养状态及身高分类情况。