ArticleProceedings of the National Academy of Sciences of the United States of America2013
Genotype-phenotype correlation in 1,507 families with congenital adrenal hyperplasia owing to 21-hydroxylase deficiency.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 161 papers, 2 of them syntheses that pooled it.
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Who cites it
161 citing papers in PubMed, 2 syntheses or guidelines pooled it, 353 citations in OpenAlex.
- Mutation distributions among patients with congenital adrenal hyperplasia from five regions of Brazil: a systematic review.Archives of endocrinology and metabolism · 2023Pooled it
- Issues with the Detection of Large Genomic Rearrangements in Molecular Diagnosis of 21-Hydroxylase Deficiency.Molecular diagnosis & therapy · 2019Pooled it
- Bilateral giant myelolipomas in a female patient with untreated 21-hydroxylase deficiency.JCEM case reports · 2026Article
- Gonadotropin Suppression During Mini-Puberty as an Early Biomarker of Classic 21-Hydroxylase Deficiency.Endocrinology, diabetes & metabolism · 2026Article
- Genetic characteristics and clinical features of pediatric congenital adrenal hyperplasia in Korea.Endocrine · 2026Article
- Short-Read NGS of a Long-RangeInternational journal of molecular sciences · 2026Article
- Integrated mapping resolves pathogenicity of 11Journal of the Endocrine Society · 2026Article
- SomeJournal of clinical medicine · 2026Article
- Four Consecutive False Negative Newborn Screens in a Patient with Classical Congenital Adrenal Hyperplasia: A Case ReportJournal of clinical research in pediatric endocrinology · 2026Article
- Benchmarking genetic birth prevalence estimates against newborn screening data.American journal of human genetics · 2026Article
- [Clinical and genetic characteristics of 165 children with salt-wasting 21-hydroxylase deficiency in Henan Province].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2026Article
- Early Risk Stratification in Non-Classical Congenital Adrenal Hyperplasia Based on Newborn 17-OHP Screening Values, Hormonal Findings, and Genotype.Journal of clinical medicine · 2026Article
- Clinical and Biochemical Phenotype Across the Genotypic Spectrum of 21-hydroxylase Deficiency in 457 Individuals.The Journal of clinical endocrinology and metabolism · 2026Article
- Adrenal Venous Sampling Aids in Distinguishing 17-Hydroxyprogesterone Hypersecreting Adrenal Cortical Adenomas from Non-Classical 21-Hydroxylase Deficiency.Diagnostics (Basel, Switzerland) · 2026Article
- Post-ACTH peak cortisol response is associated with genotype in children with nonclassic congenital adrenal hyperplasia.Frontiers in endocrinology · 2026Article
- 21-Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy.Case reports in endocrinology · 2026Article
- Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques.Frontiers in endocrinology · 2026Review
- Case Report: unmasking pseudo-homozygosity inFrontiers in endocrinology · 2026Article
- Stress-associated transient enlargement of pre-existing adrenal hyperplasia in 21-hydroxylase deficiency: a case report.Frontiers in endocrinology · 2026Article
- Genetic characterization and screening of congenital adrenal hyperplasia by long-read sequencing in a cohort of 21,239 newborns.Genome medicine · 2025Article
101 more citing papers are in PubMed but not listed here.
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Authors and funding
10 authors at 5 institutions in 4 countries.
Funding
Abstract
Over the last two decades, we have extensively studied the genetics of congenital adrenal hyperplasia caused by 21-hydroxylase deficiency (CAH) and have performed 8,290 DNA analyses of the CYP21A2 gene on members of 4,857 families at risk for CAH--the largest cohort of CAH patients reported to date. Of the families studied, 1,507 had at least one member affected with one of three known forms of CAH, namely salt wasting, simple virilizing, or nonclassical CAH. Here, we report the genotype and phenotype of each affected patient, as well as the ethnic group and country of origin for each patient. We showed that 21 of 45 genotypes yielded a phenotypic correlation in our patient cohort. In particular, contrary to what is generally reported in the literature, we found that certain mutations, for example, the P30L, I2G, and I172N mutations, yielded different CAH phenotypes. In salt wasting and nonclassical CAH, a phenotype can be attributed to a genotype; however, in simple virilizing CAH, we observe wide phenotypic variability, particularly with the exon 4 I172N mutation. Finally, there was a high frequency of homozygous I2G and V281L mutations in Middle Eastern and Ashkenazi Jewish populations, respectively. By identifying the predominant phenotype for a given genotype, these findings should assist physicians in prenatal diagnosis and genetic counseling of parents who are at risk for having a child with CAH.
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