Genetic characteristics and clinical features of pediatric congenital adrenal hyperplasia in Korea.

Authors

Insung Kim, Min Hyung Cho, Young Ah Lee, Yun Jeong Lee, Chong Kun Cheon, Junghwan Suh, Jung-Eun Moon, Chan Jong Kim, Han Hyuk Lim, Moon Bae Ahn, Jaehyun Kim, Jin-Ho Choi, Yena Lee, Minsun Kim, Han-Wook Yoo, Arum Oh, Won Kyoung Cho, Young-Jun Rhie, Sochung Chung, Kye Shik Shim, Jin Kyung Kim, Sung Yoon Cho, Hae Sang Lee

Published in

Endocrine. Volume 91. Issue 1. Aug 06, 2026. Epub Aug 06, 2026.

Abstract

Despite 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.
We 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.
21-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).
This 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.

PMID:
42560450
Bibliographic data and abstract were imported from PubMed on 06 Aug 2026.

Read full publication at:
Please sign in to see all details.

Stats

1-terrible, 9-excellent. How would you rate this publication? Sign in in to submit your rating.

Post a comment

You need to be signed in to post comments. You can sign in here.

Comments

There are no comments yet.