ReviewAnnals of pediatric endocrinology & metabolism2016
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Review in Annals of pediatric endocrinology & metabolism, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 28 citations in OpenAlex.
- Clinical Application of Steroid Profiles and Their Interpretation in Adrenal Disorders.Diagnostics (Basel, Switzerland) · 2026Review
- Identification of a Homozygous Variant in theGenes · 2025Article
- Characterization of the CYP21A2 Gene Mutations in Children with Classic Congenital Adrenal Hyperplasia.Indian journal of pediatrics · 2024Article
- Comparison of long-read sequencing and MLPA combined with long-PCR sequencing ofFrontiers in genetics · 2024Article
- Molecular characterization of the new clinical entity associated with congenital adrenal hyperplasia: the CAH-X syndrome in the Spanish population.Advances in laboratory medicine · 2023Article
- Article
- Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome.Annals of pediatric endocrinology & metabolism · 2023Article
- Copy Number Variations in Genetic Diagnosis of Congenital Adrenal Hyperplasia Children.Frontiers in genetics · 2022Article
- Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision).Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology · 2022Article
- Steroidogenic electron-transfer factors and their diseases.Annals of pediatric endocrinology & metabolism · 2021Article
- Resolving misalignment interference for NGS-based clinical diagnostics.Human genetics · 2021Article
- Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency: A Comprehensive Focus on 233 Pathogenic Variants of CYP21A2 Gene.Molecular diagnosis & therapy · 2018Review
- Testicular adrenal rest tumors in boys with 21-hydroxylase deficiency, timely diagnosis and follow-up.Endocrine connections · 2018Article
- Development of CYP21A2 Genotyping Assay for the Diagnosis of Congenital Adrenal Hyperplasia.Molecular diagnosis & therapy · 2017Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The term congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone from cholesterol in the adrenal glands. Approximately 95% of all CAH cases are caused by 21-hydroxylase deficiency encoded by the CYP21A2 gene. The disorder is categorized into classical forms, including the salt-wasting and the simple virilizing types, and nonclassical forms based on the severity of the disease. The severity of the clinical features varies according to the level of residual 21-hydroxylase activity. Newborn screening for CAH is performed in many countries to prevent salt-wasting crises in the neonatal period, to prevent male sex assignment in affected females, and to reduce long-term morbidities, such as short stature, gender confusion, and psychosexual disturbances. 17α-hydroxyprogesterone is a marker for 21-hydroxylase deficiency and is measured using a radioimmunoassay, an enzyme-linked immunosorbent assay, or a fluoroimmunoassay. Recently, liquid chromatography linked with tandem mass spectrometry was developed for rapid, highly specific, and sensitive analysis of multiple analytes. Urinary steroid analysis by gas chromatography mass spectrometry also provides qualitative and quantitative data on the excretion of steroid hormone metabolites. Molecular analysis of CYP21A2 is useful for genetic counseling, confirming diagnosis, and predicting prognoses. In conclusion, early detection using neonatal screening tests and treatment can prevent the worst outcomes of 21-hydroxylase deficiency.
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