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    Glossary CYP21A2 gene

    encodes an enzyme essential for hormone production in adrenal glands

    The CYP21A2 gene, also known as the 21-hydroxylase gene, provides instructions for making an enzyme called 21-hydroxylase. This enzyme is crucial for the production of certain hormones in the adrenal glands, including cortisol and aldosterone. Mutations in the CYP21A2 gene can lead to congenital adrenal hyperplasia (CAH), a group of genetic disorders affecting hormone production and leading to symptoms such as abnormal growth and development.

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    1. Study of Human Leukocyte Antigen ( HLA ) in 13 cases of familial frontal fibrosing alopecia: CYP 21A2 gene p.V281L mutation from congenital adrenal hyperplasia linked to HLA class I haplotype HLA ‐ A*33:01 ; B*14:02; C*08:02 as a genetic marker Australasian Journal of Dermatology · 2019 · 7 citations
    2. The Associations of Androgen-Related Genes CYP21A2 and CYP19A1 with Severe Acne Vulgaris in Patients from Southwest China Clinical Cosmetic and Investigational Dermatology · 2021 · 10 citations
    3. 8368 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH Journal of the Endocrine Society · 2024
    4. 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH Journal of the Endocrine Society · 2024
    5. Detection of mutations in the CYP21A2 gene: genotype-phenotype correlation in Slovenian couples with conceiving problems Balkan Journal of Medical Genetics · 2015 · 1 citations
    6. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    7. CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS) Hormone and Metabolic Research · 2013 · 9 citations
    8. Genetics and Pathophysiology of Congenital Adrenal Hyperplasia Contemporary Endocrinology · 2017
    9. Genetic screening of non-classic CAH females with hyperandrogenemia identifies a novel CYP11B1 gene mutation Hormones · 2016
    10. First case of V281+I172N/V281L CYP21A2 genotype associated with congenital adrenal hyperplasia form. A case report from South Italy Clinical Biochemistry · 2007
    11. Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management Endocrine Reviews · 2021 · 157 citations
    12. Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women Human Reproduction Update · 2017 · 117 citations
    13. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    14. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2017 · 88 citations
    15. Nonclassic adrenal hyperplasia Reviews in endocrine and metabolic disorders · 2008 · 55 citations
    16. Non-classic congenital adrenal hyperplasia Steroids · 2013 · 42 citations
    17. A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review Zhonghua neifenmi daixie zazhi · 2017 · 1 citations
    18. Nonclassical Congenital Adrenal Hyperplasia and Pregnancy Case reports in endocrinology · 2015 · 1 citations
    19. Approaching fertility in congenital adrenal hyperplasia: exploring P30L mutation-induced 21-hydroxylase deficiency with a presentation between non-classical and simple virilizing phenotypes. A case report Medicine and Pharmacy Reports · 2023
    20. SAT-210 When Acne, Hirsutism and Menstrual Irregularities Are More Than PCOS Journal of the Endocrine Society · 2020
    21. Nonclassic Congenital Adrenal Hyperplasia: An Overview Journal of Pediatric Nursing · 2009
    22. Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management. PubMed · 2022 · 188 citations
    23. CYP21A2 Genotypes do not Predict the Severity of Hyperandrogenic Manifestations in the Nonclassical Form of Congenital Adrenal Hyperplasia Hormone and Metabolic Research · 2013 · 14 citations
    24. Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Journal of Clinical Research in Pediatric Endocrinology · 2024
    25. M2 Macrophage and Extracellular Matrix Genes Are Enriched in High‐Activity Lichen Planopilaris Dermatology Research and Practice · 2025
    26. A numerical study of aircraft empennage buffet Clinical Cosmetic and Investigational Dermatology · 1999 · 4 citations
    27. Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening Pediatrics International · 2023
    28. Hepatotoxicity with low- and ultralow-dose flutamide: a surveillance study on 203 hyperandrogenic young females Fertility and Sterility · 2012 · 29 citations
    29. Genetic Defects of Female Sexual Differentiation Elsevier eBooks · 2016
    30. What does acne genetics teach us about disease pathogenesis? British Journal of Dermatology · 2019 · 29 citations