The First-year Outcomes of the Nationwide Neonatal CAH Screening in Türkiye: High Rate of False Positives for 21-hydroxylase Deficiency and a Higher Detection Rate of Non-classical Cases

Neonatal CAH screening facilitates early diagnosis of 21-OHD and improved patient care. Using refined cut-offs may reduce referrals six-fold and eliminate second-tier testing for 95% of infants. Ongoing evaluation can enhance the efficiency and cost-effectiveness of the screening protocol.

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Publication Details

Journal
Journal of Clinical Research in Pediatric Endocrinology
Published
2025-05-23
DOI
https://doi.org/10.4274/jcrpe.galenos.2025.2024-9-11
Primary Topic
Sexual Differentiation and Disorders
Type
article
Field-Weighted Citation Impact
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article

The First-year Outcomes of the Nationwide Neonatal CAH Screening in Türkiye: High Rate of False Positives for 21-hydroxylase Deficiency and a Higher Detection Rate of Non-classical Cases

Yüksel Hakan Aydoğmuş, Elif Eviz, Eda Mengen, Büşra Gürpınar Tosun et al.
Journal of Clinical Research in Pediatric Endocrinology
Sexual Differentiation and Disorders
article

The First-year Outcomes of the Nationwide Neonatal CAH Screening in Türkiye: High Rate of False Positives for 21-hydroxylase Deficiency and a Higher Detection Rate of Non-classical Cases

Yüksel Hakan Aydoğmuş, Elif Eviz, Eda Mengen, Büşra Gürpınar Tosun, Ahmet Anık, Tülay Güran, Emine Çamtosun, Şükran Darcan, Mehmet İsakoca, Müge Atar, Gülay Can Yılmaz, Aylin Kılınç Uğurlu, Doğuş Vurallı, İhsan Turan, Edip Ünal, Elif Yuruker
article en

Abstract

Neonatal CAH screening facilitates early diagnosis of 21-OHD and improved patient care. Using refined cut-offs may reduce referrals six-fold and eliminate second-tier testing for 95% of infants. Ongoing evaluation can enhance the efficiency and cost-effectiveness of the screening protocol.

Journal of Clinical Research in Pediatric EndocrinologyVol. 17(4)
Dicle University (TR), Ministry of Health (TR), University of Health Science (KH), Inonu University (TR), Ege University (TR), Memorial Ankara Hospital (TR), Antalya Eğitim ve Araştırma Hastanesi (TR), Education Training And Research (US), Türksat (Turkey) (TR), Sağlık Bilimleri Üniversitesi (TR), Ankara Bilkent City Hospital (TR), Cukurova University (TR), Hacettepe University (TR), Marmara University (TR), Adnan Menderes University (TR), University of Health Sciences Antigua (AG)
Openalex Percentile: Top 90%
Sexual Differentiation and Disorders
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