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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. 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
    7. Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency Indian Journal of Endocrinology and Metabolism · 2013 · 14 citations
    8. 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
    9. Ovarian intratumoral 21-hydroxylase deficiency in a postmenopausal hirsute woman Arquivos Brasileiros De Endocrinologia E Metabologia · 2012 · 4 citations
    10. A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review Zhonghua neifenmi daixie zazhi · 2017 · 1 citations
    11. Heterozygous 21‐hydroxylasedeficiency as a cause of hyperandrogenism Journal der Deutschen Dermatologischen Gesellschaft · 2012 · 1 citations
    12. 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
    13. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review Quality in Sport · 2026
    14. 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
    15. Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing Molecular Genetics & Genomic Medicine · 2025
    16. Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Journal of Clinical Research in Pediatric Endocrinology · 2024
    17. Isotretinoin-unresponsive acne as a sign of a congenital disorder: a case of 21-hydroxylase deficiency Dermatology Reports · 2023
    18. Current and future perspectives on clinical management of classic 21-hydroxylase deficiency Endocrine Journal · 2023
    19. Clinical features of non‐classical 21‐hydroxylase deficiency after normal newborn mass screening Pediatrics International · 2023
    20. 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
    21. Nonclassic 21-hydroxylase deficiency Fertility and Sterility · 2006 · 13 citations
    22. Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency 2022
    23. 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
    24. LC-MS/MS improves screening towards 21-hydroxylase deficiency Gynecological Endocrinology · 2014 · 7 citations
    25. 11α-Hydroxyprogesterone, a potent 11β-hydroxysteroid dehydrogenase inhibitor, is metabolised by steroid-5α-reductase and cytochrome P450 17α-hydroxylase/17,20-lyase to produce C11α-derivatives of 21-deoxycortisol and 11-hydroxyandrostenedione in vitro The Journal of Steroid Biochemistry and Molecular Biology · 2019 · 7 citations
    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