Institute of Endocrinology, Medical Academy, Lithuanian University of Health Sciences, LT-50009 Kaunas, Lithuania.
Medical Faculty, Institute of Biomedical Sciences, Vilnius University, LT-03101 Vilnius, Lithuania.
Medicina (Kaunas). 2021 Sep 29;57(10):1035. doi: 10.3390/medicina57101035.
: The main reason for Newborn screening (NBS) for congenital adrenal hyperplasia (CAH) is to prevent adrenal insufficiency that can lead to life-threatening conditions. On the other hand, screening programs are not always sensitive and effective enough to detect the disease. We aimed to evaluate impact of the national NBS on the clinical presentation of patients with CAH in Lithuania. : A retrospective study was performed on data of 88 patients with CAH from 1989 to 2020. Patients with confirmed CAH were divided into two groups: (1) 75 patients diagnosed before NBS: 52 cases with salt-wasting (SW), 21 with simple virilising (SV) and two with non-classical (NC) form; (2) 13 patients diagnosed with NBS: 12 cases with SW and 1 case with SV form. For the evaluation of NBS effectiveness, data of only male infants with salt-wasting CAH were analysed ( = 36, 25 unscreened and nine screened). Data on gestational age, birth weight, weight, symptoms, and laboratory tests (serum potassium and sodium levels) on the day of diagnosis, were analysed. : A total of 158,486 neonates were screened for CAH from 2015 to 2020 in Lithuania and CAH was confirmed in 13 patients (12 SW, one-SV form), no false negative cases were found. The sensitivity and specificity of NBS program for classical CAH forms were 100%; however, positive predictive value was only 4%. There were no significant differences between unscreened and screened male infant groups in terms of age at diagnosis, serum potassium, and serum sodium levels. Significant differences were found in weight at diagnosis between the groups (-1.67 ± 1.12 SDS versus 0.046 ± 1.01 SDS of unscreened and screened patients respectively, = 0.001). : The sensitivity and specificity of NBS for CAH program were 100%, but positive predictive value-only 4%. Weight loss was significantly lower and the weight SDS at diagnosis was significantly higher in the group of screened patients.
新生儿先天性肾上腺皮质增生症（CAH）筛查的主要原因是预防可能导致危及生命的肾上腺功能不全。另一方面，筛查方案并不总是足够敏感和有效，无法检测出这种疾病。我们旨在评估立陶宛全国新生儿筛查对 CAH 患者临床表现的影响。
进行了一项回顾性研究，对 1989 年至 2020 年期间的 88 例 CAH 患者的数据进行了分析。将确诊为 CAH 的患者分为两组：（1）筛查前确诊的 75 例患者：52 例失盐型（SW），21 例单纯男性化（SV），2 例非经典型（NC）；（2）通过新生儿筛查确诊的 13 例患者：12 例 SW，1 例 SV。为了评估新生儿筛查的效果，仅分析了患有失盐型 CAH 的男性新生儿的数据（=36 例，25 例未筛查，9 例筛查）。分析了诊断日的胎龄、出生体重、体重、症状和实验室检查（血清钾和钠水平）的数据。
从 2015 年至 2020 年，立陶宛对 158486 名新生儿进行了 CAH 筛查，共确诊 13 例患者（12 例 SW，1 例 SV 型），未发现假阴性病例。新生儿筛查方案对经典 CAH 型的敏感性和特异性均为 100%；然而，阳性预测值仅为 4%。在诊断年龄、血清钾和血清钠水平方面，未筛查和筛查男性婴儿组之间无显著差异。两组在诊断时的体重存在显著差异（未筛查组为-1.67±1.12 SDS，筛查组为 0.046±1.01 SDS，=0.001）。
CAH 新生儿筛查方案的敏感性和特异性均为 100%，但阳性预测值仅为 4%。筛查组的体重下降明显更低，诊断时的体重 SDS 明显更高。
