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    Glossary 21-hydroxylase deficiency

    genetic disorder impairing adrenal hormone production, causing excess androgens

    21-hydroxylase deficiency, also known as 21-OHD, is a genetic disorder that affects the adrenal glands' ability to produce certain hormones, specifically cortisol and aldosterone. This enzyme deficiency leads to an overproduction of androgens, which can cause symptoms such as ambiguous genitalia in newborns, early puberty, and severe salt-wasting crises.

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    1. Screening for 21-hydroxylase–deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study Fertility and Sterility · 1999 · 216 citations
    2. 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
    3. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    4. Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism* The Journal of Clinical Endocrinology and Metabolism · 1997 · 31 citations
    5. The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis Clinical Endocrinology · 2015 · 25 citations
    6. Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency Indian Journal of Endocrinology and Metabolism · 2013 · 14 citations
    7. Steroid 17-Hydroxyprogesterone in Hair Is a Potential Long-Term Biomarker of Androgen Control in Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency Neuroendocrinology · 2019 · 10 citations
    8. Ovarian intratumoral 21-hydroxylase deficiency in a postmenopausal hirsute woman Arquivos Brasileiros De Endocrinologia E Metabologia · 2012 · 4 citations
    9. A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review Zhonghua neifenmi daixie zazhi · 2017 · 1 citations
    10. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review Quality in Sport · 2026
    11. Muscle pain in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency resolved with testosterone therapy. A case report with 10 years of follow-up Frontiers in Endocrinology · 2026
    12. Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing Molecular Genetics & Genomic Medicine · 2025
    13. Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Journal of Clinical Research in Pediatric Endocrinology · 2024
    14. Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency Dermatology Reports · 2023
    15. 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
    16. Current and future perspectives on clinical management of classic 21-hydroxylase deficiency Endocrine Journal · 2023
    17. Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening Pediatrics International · 2023
    18. The Cycle Characteristics and Outcomes of Infertile Nonclassic 21-Hydroxylase Deficiency Patients Undergoing Ovarian Stimulation for In Vitro Fertilization Hormone and Metabolic Research · 2019 · 5 citations
    19. Nonclassic 21-hydroxylase deficiency Fertility and Sterility · 2006 · 13 citations
    20. Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency 2022
    21. A recently characterized, underdiagnosed cause of female androgenetic alopecia and polycystic ovarian syndrome: non-classical 21 hydroxylase deficiency Hair transplant forum international · 2013 · 1 citations
    22. LC-MS/MS improves screening towards 21-hydroxylase deficiency Gynecological Endocrinology · 2014 · 7 citations
    23. Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status European journal of endocrinology · 1999 · 19 citations
    24. Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism Journal der Deutschen Dermatologischen Gesellschaft · 2012 · 1 citations
    25. Delayed Diagnosis of Congenital Adrenal Hyperplasia Due to 3β-Hydroxysteroid Dehydrogenase Type 2 Deficiency JCEM Case Reports · 2025
    26. The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report Fertility and Sterility · 2008 · 1540 citations
    27. Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management. PubMed · 2022 · 188 citations
    28. Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management Endocrine Reviews · 2021 · 157 citations
    29. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    30. A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia among Women Presenting with Hyperandrogenic Symptoms and Signs The Journal of Clinical Endocrinology and Metabolism · 2007 · 150 citations