ReviewThe Journal of clinical endocrinology and metabolism2025
Genetics and Pathophysiology of Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency.
Review in The Journal of clinical endocrinology and metabolism, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Exploring Factors Associated With Parental Acceptance-Rejection Among Parents of Children With Congenital Adrenal Hyperplasia in Central Java, Indonesia.Journal of genetic counseling · 2026Article
- Newborn screening for congenital adrenal hyperplasia: a 3 years study embedded in 25 years of regional experience in Italy.Endocrine · 2026Article
- Approach to Disorders of Sex Development in the Genomic Era.Indian journal of pediatrics · 2026Review
- Short-Read NGS of a Long-RangeInternational journal of molecular sciences · 2026Article
- Glucocorticoid reduction after starting crinecerfont in pediatric patients with classic congenital adrenal hyperplasia: practical perspectives.The Journal of clinical endocrinology and metabolism · 2026Review
- Menarche in the third decade: congenital adrenal hyperplasia masquerading as Mayer-Rokitansky-Küster-Hauser syndrome.JCEM case reports · 2026Article
- Glucocorticoid reduction after starting crinecerfont in adult patients with classic CAH: practical perspectives.The Journal of clinical endocrinology and metabolism · 2026Article
- Factors affecting the quality of life of adults living with congenital adrenal hyperplasia: a qualitative study of lived experience.Endocrine connections · 2026Article
- Article
- Reduced cortical thickness in individuals with congenital adrenal hyperplasia (CAH).Scientific reports · 2026Article
- [Consensus recommendations on the diagnosis and treatment of hyperkalemia of the Austrian Society of Nephrology 2026].Wiener klinische Wochenschrift · 2026Review
- Live Births Following IVF-FET in Two Adult Sisters with Nonclassic P450 Oxidoreductase Deficiency: A Case Report Identifying a Novel POR Variant.International journal of women's health · 2026Article
- Knowledge, attitudes, and practices of Chinese endocrinologists on congenital adrenal hyperplasia: emphasis on fertility management and diagnostic challenges.Frontiers in public health · 2026Article
- Coexistence of 21-hydroxylase deficiency and Gitelman syndrome in a neonate presenting with severe hyponatremic seizures: a case report.Frontiers in endocrinology · 2026Article
- Evolution of molecular diagnostic strategies for 21-hydroxylase deficiency: from classical methods to advanced genomic techniques.Frontiers in endocrinology · 2026Review
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Authors and funding
2 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease that manifests clinically in varying forms depending on the degree of enzyme deficiency. CAH is most commonly caused by 21-hydroxylase deficiency (21OHD) due to mutations in the CYP21A2 gene. Whereas there is a spectrum of disease severity, 21OHD is generally categorized into 3 forms. The classic form encompasses salt-wasting and simple virilizing CAH and the least affected form is termed nonclassic CAH. The classic form of 21OHD occurs in ∼1 in 16 000 births with the most severe salt-wasting cases presenting in the neonatal period with cortisol and aldosterone deficiencies and virilization of external female genitalia. Cortisol deficiency removes normal feedback on the hypothalamic-pituitary-adrenal axis leading to elevations in ACTH and adrenal androgen levels, which often accelerate skeletal maturation, leading to premature epiphyseal growth plate closure. Additionally, supraphysiologic doses of glucocorticoids are necessary to suppress androgen levels, adversely affecting final adult height. This paper highlights a brief history of 21OHD and provides an overview of the genetic basis and pathophysiology of 21OHD.
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