Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam.
| Title: | Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam. |
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| Authors: | Nguyen KN; The Center for Endocrinology, Metabolism, Genetics/Genomic and Molecular Therapy, National Children's Hospital, Hanoi, Vietnam.; Dang GTK; The Center for Endocrinology, Metabolism, Genetics/Genomic and Molecular Therapy, National Children's Hospital, Hanoi, Vietnam.; Can NTB; The Center for Endocrinology, Metabolism, Genetics/Genomic and Molecular Therapy, National Children's Hospital, Hanoi, Vietnam.; Tran DM; The Center for Endocrinology, Metabolism, Genetics/Genomic and Molecular Therapy, National Children's Hospital, Hanoi, Vietnam.; Bui TP; The Center for Endocrinology, Metabolism, Genetics/Genomic and Molecular Therapy, National Children's Hospital, Hanoi, Vietnam.; Phuong MNT; Department of Human Genetics, National Children's Hospital, Hanoi, Vietnam.; Pham HT; Department of Human Genetics, National Children's Hospital, Hanoi, Vietnam.; Ngo ND; Department of Human Genetics, National Children's Hospital, Hanoi, Vietnam.; Vu DC; The Center for Endocrinology, Metabolism, Genetics/Genomic and Molecular Therapy, National Children's Hospital, Hanoi, Vietnam. |
| Source: | Annals of pediatric endocrinology & metabolism [Ann Pediatr Endocrinol Metab] 2025 Dec; Vol. 30 (6), pp. 330-339. Date of Electronic Publication: 2025 May 07. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: Korean Society of Pediatric Endocrinology Country of Publication: Korea (South) NLM ID: 101588279 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2287-1012 (Print) Linking ISSN: 22871012 NLM ISO Abbreviation: Ann Pediatr Endocrinol Metab Subsets: PubMed not MEDLINE |
| Imprint Name(s): | Original Publication: Seoul : Korean Society of Pediatric Endocrinology |
| Abstract: | Purpose: Simple virilizing congenital adrenal hyperplasia (SV-CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disease caused by pathogenic variants of the CYP21A2 gene. Children with SV-CAH often experience delayed diagnosis, presenting with pseudo-precocious puberty in males and genital virilization in females. Genotyping is essential for diagnosis, treatment, optimization, and phenotype prediction. This study describes the clinical and genetic characteristics of SV-CAH to guide treatment strategies.; Methods: From November 2016 to March 2023, 79 children (accounting for 34.3% of 230 CAH cases in the overall children's cohort) from 75 families were classified as SV-CAH due to 21-OHD at the Vietnam National Children's Hospital. Forty-three children underwent CYP21A2 mutation analysis using multiplex ligation-dependent probe amplification and complete gene sequencing to detect pathogenic variants.; Results: Median age at diagnosis was 4.5 years (interquartile range, 1 day-22.3 years). There were 38.0% males and 62.0% females. The most common symptoms were penile enlargement in males (53.3%) and clitoromegaly (87.8%) in females; the height standard deviation (SD) at diagnosis was 1.90±1.79 SD (-2.02 to 5.43) according to the World Health Organization; and bone age advancement was 4.65±2.59 years. Genetic analysis identified 21 pathogenic variants and 22 genotypes in 43 children. The most common variant was p.I173N (47.7%); the most common genotype was p.I173N/p.I173N (16.3%).; Conclusion: Children with SV-CAH are often diagnosed late. To avoid that, early genetic analysis should be prioritized, especially for children diagnosed through newborn screening programs. Determining the genotype is crucial for optimizing treatment strategies, ensuring personalized management, and avoiding overtreatment. |
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| Contributed Indexing: | Keywords: 21-Hydroxylase deficiency; Simple virilizing congenital adrenal hyperplasia |
| Entry Date(s): | Date Created: 20250507 Date Completed: 20260109 Latest Revision: 20260111 |
| Update Code: | 20260130 |
| PubMed Central ID: | PMC12784094 |
| DOI: | 10.6065/apem.2448292.146 |
| PMID: | 40335094 |
| Database: | MEDLINE |
Journal Article