Enhancing Accuracy of Newborn Screening for 21OHD: Strategic Use of 21-Deoxycortisol in a Large-Scale Tokyo Cohort
This large-scale prospective study showed that a refined LC-MS/MS algorithm using 21DOC and 11DOC/17OHP greatly improved 21OHD screening specificity, eliminating LBW-related FPs and enhancing NBS efficiency.
Authors
- Hisae Nakatani (ORCID: https://orcid.org/0000-0002-8502-222X)
- Shizuka Kirino (ORCID: https://orcid.org/0009-0001-0991-4330)
- Kei Takasawa (ORCID: https://orcid.org/0000-0001-6947-4034)
- Atsuko Hashimoto
- Atsumi Tsuji‐Hosokawa (ORCID: https://orcid.org/0000-0001-8226-2618)
- Haruki Yamano (ORCID: https://orcid.org/0009-0000-5434-3664)
- Yoko Saito (ORCID: https://orcid.org/0009-0004-2975-8656)
- Nobuyuki Ishige (ORCID: https://orcid.org/0000-0002-1386-2705)
- Kenichi Kashimada (ORCID: https://orcid.org/0000-0003-2505-5932)
- Maki Gau (ORCID: https://orcid.org/0000-0002-0318-5472)
- Yuri Suzuki (ORCID: https://orcid.org/0000-0002-3429-0961)
- Masaki Komatsu
- Kazuhiro Watanabe (ORCID: https://orcid.org/0000-0001-8662-9333)
- Eriko Adachi (ORCID: https://orcid.org/0009-0001-5260-7571)
Institutions
- Japan Industrial Safety and Health Association (JP)
- National Center For Child Health and Development (JP)
- The University of Tokyo (JP)
Publication Details
- Journal
- The Journal of Clinical Endocrinology & Metabolism
- Published
- 2025-09-08
- DOI
- https://doi.org/10.1210/clinem/dgaf506
- Primary Topic
- Metabolism and Genetic Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00