Federico Baronio, Enrica Abrigo, Sara Azzolini, Paolo Cavarzere, Cristina Cereda, Luisa De Sanctis, Silvia Laura Carla Meroni, Jessica Munarin, Francesca Righetti, Gianni Russo, Francesca Teofoli, Antonio Balsamo
{"title":"21羟化酶缺乏症导致先天性肾上腺增生的新生儿筛查：2006-2019年意大利经验","authors":"Federico Baronio, Enrica Abrigo, Sara Azzolini, Paolo Cavarzere, Cristina Cereda, Luisa De Sanctis, Silvia Laura Carla Meroni, Jessica Munarin, Francesca Righetti, Gianni Russo, Francesca Teofoli, Antonio Balsamo","doi":"10.1007/s40618-025-02669-3","DOIUrl":null,"url":null,"abstract":"<p><strong>Purpose: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>","PeriodicalId":48802,"journal":{"name":"Journal of Endocrinological Investigation","volume":" ","pages":""},"PeriodicalIF":3.5000,"publicationDate":"2025-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Newborn screening for congenital adrenal hyperplasia due to 21 hydroxylase deficiency: the Italian experience 2006-2019.\",\"authors\":\"Federico Baronio, Enrica Abrigo, Sara Azzolini, Paolo Cavarzere, Cristina Cereda, Luisa De Sanctis, Silvia Laura Carla Meroni, Jessica Munarin, Francesca Righetti, Gianni Russo, Francesca Teofoli, Antonio Balsamo\",\"doi\":\"10.1007/s40618-025-02669-3\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Purpose: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</p>\",\"PeriodicalId\":48802,\"journal\":{\"name\":\"Journal of Endocrinological Investigation\",\"volume\":\" \",\"pages\":\"\"},\"PeriodicalIF\":3.5000,\"publicationDate\":\"2025-09-15\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Journal of Endocrinological Investigation\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1007/s40618-025-02669-3\",\"RegionNum\":2,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Journal of Endocrinological Investigation","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1007/s40618-025-02669-3","RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"Medicine","Score":null,"Total":0}
Newborn screening for congenital adrenal hyperplasia due to 21 hydroxylase deficiency: the Italian experience 2006-2019.
Purpose: 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: 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.
Results: 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.
Conclusions: 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.
期刊介绍：
The Journal of Endocrinological Investigation is a well-established, e-only endocrine journal founded 36 years ago in 1978. It is the official journal of the Italian Society of Endocrinology (SIE), established in 1964. Other Italian societies in the endocrinology and metabolism field are affiliated to the journal: Italian Society of Andrology and Sexual Medicine, Italian Society of Obesity, Italian Society of Pediatric Endocrinology and Diabetology, Clinical Endocrinologists’ Association, Thyroid Association, Endocrine Surgical Units Association, Italian Society of Pharmacology.
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