The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years’ experience
Congenital adrenal hyperplasia (CAH) occurs due to enzyme defects in adrenal steroidogenesis. The 21-hydroxylase deficiency accounts for 90–95% of cases, triggering accumulation of 17-hydroxyprogesterone (17-OHP). Early diagnosis through neonatal screening allows adequate treatment and reduced morta...
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| Format: | Article |
| Language: | English |
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Bioscientifica
2023-10-01
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| Series: | Endocrine Connections |
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| Online Access: | https://ec.bioscientifica.com/view/journals/ec/aop/ec-23-0162/ec-23-0162.xml |
| _version_ | 1797646418026954752 |
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| author | Simone Martins de Castro Paloma Wiest Poli Mara Spritzer Cristiane Kopacek |
| author_facet | Simone Martins de Castro Paloma Wiest Poli Mara Spritzer Cristiane Kopacek |
| author_sort | Simone Martins de Castro |
| collection | DOAJ |
| description | Congenital adrenal hyperplasia (CAH) occurs due to enzyme defects in adrenal steroidogenesis. The 21-hydroxylase deficiency accounts for 90–95% of cases, triggering accumulation of 17-hydroxyprogesterone (17-OHP). Early diagnosis through neonatal screening allows adequate treatment and reduced mortality. The purpose of the study was to determine 17-OHP cutoffs for the diagnosis of CAH in a public newborn screening program in Southern Brazil. A retrospective, descriptive, cross-sectional study was conducted to analyze 17-OHP levels in dried blood samples collected on filter paper of 317,745 newborns screened at a public newborn screening center from May 2014 to April 2017. Neonatal 17-OHP was measured in DBS samples using a time-resolved fluoroimmunoassay (GSP® kit 3305-0010; PerkinElmer). Different cutoffs were determined and stratified by birth weight. The incidence of CAH was 1:15,88 7 live births in the state of Rio Grande do Sul, with 20 cases of classical CAH diagnosed during the study period. Most newborns (80.73%) were white, and the prematurity rate was 9.8% in the study population. The combination of different percentiles, 98.5th for birth weight 2001–2500 g and 99.8th for the other birth weight groups, decreased false-positive results and increased specificity compared with current reference values to identify classical CAH cases. The local 17-OHP cutoffs determined were higher than those currently used by this screening program for all birth weight groups. The calculation of reference values from local population data and the combination of percentiles proved to be a valuable tool for proper diagnosis of CAH and reduction in the number of false positives. |
| first_indexed | 2024-03-11T15:02:19Z |
| format | Article |
| id | doaj.art-f6faf3bfb1a74e8bb44b1fd7b6526f1f |
| institution | Directory Open Access Journal |
| issn | 2049-3614 |
| language | English |
| last_indexed | 2024-03-11T15:02:19Z |
| publishDate | 2023-10-01 |
| publisher | Bioscientifica |
| record_format | Article |
| series | Endocrine Connections |
| spelling | doaj.art-f6faf3bfb1a74e8bb44b1fd7b6526f1f2023-10-30T06:51:18ZengBioscientificaEndocrine Connections2049-36142023-10-01121219https://doi.org/10.1530/EC-23-0162The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years’ experienceSimone Martins de Castro0Paloma Wiest1Poli Mara Spritzer2Cristiane Kopacek3Hospital Materno Infantil Presidente Vargas, Newborn Screening Referral Center, Porto Alegre, RS, Brazil; Department of Analysis, Universidade Federal do Rio Grande do Sul (UFRGS), School of Pharmacy, Porto Alegre, RS, Brazil Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, BrazilDivision of Endocrinology, Department of Physiology, Universidade Federal do Rio Grande do Sul (UFRGS), Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, RS, BrazilHospital Materno Infantil Presidente Vargas, Newborn Screening Referral Center, Porto Alegre, RS, Brazil; Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brazil; Department of Pediatrics, Universidade Federal do Rio Grande do Sul (UFRGS), Medical School, Porto Alegre, RS, Brazil Congenital adrenal hyperplasia (CAH) occurs due to enzyme defects in adrenal steroidogenesis. The 21-hydroxylase deficiency accounts for 90–95% of cases, triggering accumulation of 17-hydroxyprogesterone (17-OHP). Early diagnosis through neonatal screening allows adequate treatment and reduced mortality. The purpose of the study was to determine 17-OHP cutoffs for the diagnosis of CAH in a public newborn screening program in Southern Brazil. A retrospective, descriptive, cross-sectional study was conducted to analyze 17-OHP levels in dried blood samples collected on filter paper of 317,745 newborns screened at a public newborn screening center from May 2014 to April 2017. Neonatal 17-OHP was measured in DBS samples using a time-resolved fluoroimmunoassay (GSP® kit 3305-0010; PerkinElmer). Different cutoffs were determined and stratified by birth weight. The incidence of CAH was 1:15,88 7 live births in the state of Rio Grande do Sul, with 20 cases of classical CAH diagnosed during the study period. Most newborns (80.73%) were white, and the prematurity rate was 9.8% in the study population. The combination of different percentiles, 98.5th for birth weight 2001–2500 g and 99.8th for the other birth weight groups, decreased false-positive results and increased specificity compared with current reference values to identify classical CAH cases. The local 17-OHP cutoffs determined were higher than those currently used by this screening program for all birth weight groups. The calculation of reference values from local population data and the combination of percentiles proved to be a valuable tool for proper diagnosis of CAH and reduction in the number of false positives.https://ec.bioscientifica.com/view/journals/ec/aop/ec-23-0162/ec-23-0162.xmlcongenital adrenal hyperplasianeonatal screeningreference values17-ohpbirth weight |
| spellingShingle | Simone Martins de Castro Paloma Wiest Poli Mara Spritzer Cristiane Kopacek The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years’ experience Endocrine Connections congenital adrenal hyperplasia neonatal screening reference values 17-ohp birth weight |
| title | The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years’ experience |
| title_full | The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years’ experience |
| title_fullStr | The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years’ experience |
| title_full_unstemmed | The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years’ experience |
| title_short | The impact of neonatal 17-hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in Southern Brazil: 3 years’ experience |
| title_sort | impact of neonatal 17 hydroxyprogesterone cutoff determination in a public newborn screening program for congenital adrenal hyperplasia in southern brazil 3 years experience |
| topic | congenital adrenal hyperplasia neonatal screening reference values 17-ohp birth weight |
| url | https://ec.bioscientifica.com/view/journals/ec/aop/ec-23-0162/ec-23-0162.xml |
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