ArticleEndocrine2026
Genetic characteristics and clinical features of pediatric congenital adrenal hyperplasia in Korea.
Article in Endocrine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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
0 citing papers in PubMed.
No citing paper in PubMed yet.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
23 authors.
Funding
Abstract
purposeDespite the clinical importance of congenital adrenal hyperplasia (CAH), comprehensive data on subtype distribution, genetic characteristics, and the impact of newborn screening in Korea are limited.
methodsWe analyzed the genetic profiles and clinical characteristics at diagnosis in 368 patients with CAH diagnosed before 19 years of age from the Multicenter Networks for Ideal Outcomes of Pediatric Rare Endocrine and Metabolic Diseases in Korea (OUTSPREAD) cohort.
results21-hydroxylase deficiency (21-OHD) was the most prevalent CAH subtype (299 cases, 85.7%; 208 genetically confirmed and 91 clinically diagnosed), followed by lipoid congenital adrenal hyperplasia (LCAH; 9.5%) and 17α-hydroxylase deficiency (17α-OHD; 3.7%), accounting for 98.8% of cases. Frequent variants included c.293-13 C > G and p.Ile173Asn in 21-OHD, whereas p.Gln258Ter and p.His373Leu predominated in LCAH and 17α-OHD, consistent with East Asian population databases. Genotype-phenotype correlation analysis in 21-OHD demonstrated high positive predictive value, with genotypes characterized by minimal or absent residual enzyme activity associated with classic CAH in over 95% of cases. Among patients with salt-wasting 21-OHD, diagnosis occurred significantly earlier after newborn screening introduction, regardless of karyotype (46,XX: median 18.3 vs. 9.1 days, P = 0.031; 46,XY: 29.1 vs. 18.3 days, P = 0.019), along with a significant reduction in salt-wasting-related symptoms at diagnosis (46,XX: 33.3% vs. 10.5%, P = 0.031; 46,XY: 87.5% vs. 21.6%, P < 0.001).
conclusionThis national multicenter cohort study provides comprehensive genetic and clinical characterization of pediatric CAH in Korea, particularly in delineating CAH subtype distribution and the impact of newborn screening.
Indexed as
Identifiers
42560450What Socratic holds
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 Socratic graph.