Baronio Federico, Abrigo Enrica, Azzolini Sara, Cavarzere Paolo, Cereda Cristina, De Sanctis Luisa, Meroni Silvia Laura Carla, Munarin Jessica, Righetti Francesca, Russo Gianni, Teofoli Francesca, Balsamo Antonio
Department Hospital of Woman and Child, Pediatric Unit, IRCCS AOU di Bologna, Endo-ERN Center for Rare Endocrine Conditions, Bologna, Italy.
Pediatric Endocrinology, Department of Public Health and Pediatrics, Regina Margherita Childrens'Hospital, University of Torino, Endo-ERN Center for Rare Endocrine Conditions, Torino, Italy.
J Endocrinol Invest. 2025 Sep 15. doi: 10.1007/s40618-025-02669-3.
Early identification of classic 21-Hydroxylase Deficiency Congenital Adrenal Hyperplasia (21OH-CAH) through newborn screening (NBS) is vital to prevent morbidity from salt-wasting crises. The aim of the study is to assess the efficacy of 21OH-CAH NBS from 2006 to 2019 in the five Regions of Italy where 21OH-CAH NBS is performed.
Methods included dried blood spot (DBS) tests for 17OH-progesterone (17OHP) within the first 48-72 h, with variable protocols. Dried blood spots have been screened with a time-resolved fluoroimmunoassay for 17OHP determination (DELFIA) as first tier test in all the Italian Regions. Liquid chromatography-tandem mass spectrometry (LC-MS/MS) was implemented in the Veneto region starting October 2017 as second-tier test.
Among 2,933,074 screened newborns, 161 (86 males, 75 females) had classic 21OH-CAH, with a cumulative incidence of 1 in 17,699. Salt-wasting CAH was the most prevalent form (71.9%). Mean age at blood sampling for true positives was 9 ± 18 days, with 28% suspected before NBS results. In Regions with a second-tier test, the recall rate (RR) was 0.17, and positive predictive value (PPV) was 4.3. No patients had adrenal crisis and 23% of cases were symptomatic before the NBS results were reported.
The study confirms the efficacy of NBS in early detection of classic 21OH-CAH, emphasizing the need for timely reporting and second-tier testing to improve outcomes.
通过新生儿筛查（NBS）早期识别经典型21-羟化酶缺乏先天性肾上腺皮质增生症（21OH-CAH）对于预防失盐危象导致的发病至关重要。本研究的目的是评估2006年至2019年在意大利进行21OH-CAH新生儿筛查的五个地区中，该筛查的效果。
方法包括在出生后的48 - 72小时内对17-羟孕酮（17OHP）进行干血斑（DBS）检测，检测方案各不相同。在意大利所有地区，均采用时间分辨荧光免疫分析法（DELFIA）对干血斑进行17OHP测定的初筛。从2017年10月起，在威尼托地区采用液相色谱-串联质谱法（LC-MS/MS）作为二级检测。
在2,933,074例接受筛查的新生儿中，161例（86例男性，75例女性）患有经典型21OH-CAH，累积发病率为1/17,699。失盐型CAH是最常见的类型（71.9%）。真阳性的采血平均年龄为9±18天，28%在新生儿筛查结果出来之前就被怀疑患病。在有二级检测的地区，召回率（RR）为0.17，阳性预测值（PPV）为4.3。没有患者发生肾上腺危象，23%的病例在新生儿筛查结果报告之前就出现了症状。
该研究证实了新生儿筛查在早期检测经典型21OH-CAH方面的有效性，强调了及时报告和二级检测以改善结果的必要性。
