ReviewInternational journal of neonatal screening2020
Newborn Screening for Congenital Adrenal Hyperplasia: Review of Factors Affecting Screening Accuracy.
Review in International journal of neonatal screening, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
37 citing papers in PubMed, 61 citations in OpenAlex.
- Short-Read NGS of a Long-RangeInternational journal of molecular sciences · 2026Article
- Efficacy of Liquid-chromatography and Radioimmunoassay in False-positives' Drop-off in CAH Newborn Screening.The Journal of clinical endocrinology and metabolism · 2026Article
- [Congenital adrenal hyperplasia].Problemy endokrinologii · 2026Review
- 21-Deoxycortisone: A Novel Sensitive and Specific Newborn Screening Marker for Congenital Adrenal Hyperplasia.International journal of neonatal screening · 2026Article
- The importance of elevated basal 17-hydroxyprogesterone in the diagnosis of children with congenital adrenal hyperplasia.Journal of medical biochemistry · 2026Article
- Elevation of corticosterone and 17OH progesterone in extremely preterm infants and clinical implications.Pediatric research · 2026Article
- Improved Performance of Newborn Screening for Congenital Adrenal Hyperplasia Using 21-deoxycortisol Measurement.Journal of the Endocrine Society · 2026Article
- Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.Genome medicine · 2025Article
- Neonatal Screening for Congenital Adrenal Hyperplasia in Guangzhou: 7 Years of Experience.International journal of neonatal screening · 2025Article
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- Newborn screening for congenital adrenal hyperplasia due to 21 hydroxylase deficiency: the Italian experience 2006-2019.Journal of endocrinological investigation · 2025Article
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- Article
- Clinical Manifestations and Treatment Challenges in Infants and Children With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.The Journal of clinical endocrinology and metabolism · 2025Review
- Increase in testosterone and cortisol one week after repeated exercise in a cold environment.Frontiers in physiology · 2025Article
- Untargeted metabolomics reveals distinct biomarkers and metabolic alterations in familial and non-genetic hypercholesterolemia in Saudi patients.Frontiers in medicine · 2025Article
- Metabolomic fingerprints of clustered preterm and term neonates - a pilot study.Frontiers in endocrinology · 2025Observational
- Method Development and Clinical Utility for Simultaneous Measurement of 21-Deoxycortisol, 17-Hydroxyprogesterone, Cortisol, and Cortisone Levels in Human Plasma Using UHPLC-MS/MS.Advances in pharmacological and pharmaceutical sciences · 2025Article
- Exploring the Differential Diagnosis of Adrenal Adenoma in the Context of Situs Ambiguous: A Clinical Case Study.Medicina (Kaunas, Lithuania) · 2024Article
- An insight into Indonesia's progress for newborn screening program: What is currently going on.Heliyon · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Newborn screening for 21-hydroxylase deficiency (21OHD), the most common form of congenital adrenal hyperplasia, has been performed routinely in the United States and other countries for over 20 years. Screening provides the opportunity for early detection and treatment of patients with 21OHD, preventing salt-wasting crisis during the first weeks of life. However, current first-tier screening methodologies lack specificity, leading to a large number of false positive cases, and adequate sensitivity to detect all cases of classic 21OHD that would benefit from treatment. This review summarizes the pathology of 21OHD and also the key stages of fetal hypothalamic-pituitary-adrenal axis development and adrenal steroidogenesis that contribute to limitations in screening accuracy. Factors leading to both false positive and false negative results are highlighted, along with specimen collection best practices used by laboratories in the United States and worldwide. This comprehensive review provides context and insight into the limitations of newborn screening for 21OHD for laboratorians, primary care physicians, and endocrinologists.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.