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    Research 22

    1. 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
    2. Prevalence of CYP21 mutations and IRS1 variant among women with polycystic ovary syndrome and adrenal androgen excess Fertility and Sterility · 2005 · 40 citations
    3. CYP21A2 Mutations in Women with Polycystic Ovary Syndrome (PCOS) Hormone and Metabolic Research · 2013 · 9 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. Nonclassic congenital adrenal hyperplasia and the heterozygote carrier Expert Review of Endocrinology & Metabolism · 2013 · 2 citations
    6. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    7. Nonclassic adrenal hyperplasia Reviews in endocrine and metabolic disorders · 2008 · 55 citations
    8. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    9. Genotype–Phenotype Correlation in Children With Congenital Adrenal Hyperplasia due to 21‐Hydroxylase Deficiency Using Next Generation Sequencing Molecular Genetics & Genomic Medicine · 2025
    10. Congenital Adrenal Hyperplasia IntechOpen eBooks · 2022
    11. Recommendations for treatment of nonclassic congenital adrenal hyperplasia (NCCAH): An update Steroids · 2011 · 56 citations
    12. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    13. Nonclassic Congenital Adrenal Hyperplasia International Journal of Pediatric Endocrinology · 2010 · 49 citations
    14. Nonclassic congenital adrenal hyperplasia Current Opinion in Endocrinology, Diabetes and Obesity · 2012 · 30 citations
    15. 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
    16. Management of the Female With Non-classical Congenital Adrenal Hyperplasia (NCCAH): A Patient-Oriented Approach Frontiers in Endocrinology · 2019 · 30 citations
    17. The Androgen Excess and PCOS Society criteria for the polycystic ovary syndrome: the complete task force report Fertility and Sterility · 2008 · 1540 citations
    18. Screening for 21-hydroxylase–deficient nonclassic adrenal hyperplasia among hyperandrogenic women: a prospective study Fertility and Sterility · 1999 · 216 citations
    19. What does acne genetics teach us about disease pathogenesis? British Journal of Dermatology · 2019 · 29 citations
    20. Challenges in treatment of patients with non-classic congenital adrenal hyperplasia Frontiers in Endocrinology · 2022 · 4 citations
    21. Severe impact of late diagnosis of congenital adrenal hyperplasia on gender identity, sexual orientation and function: case report and review of the literature Frontiers in genetics · 2022 · 2 citations
    22. CD133-positive dermal papilla-derived Wnt ligands regulate postnatal hair growth Biochemical Journal · 2016 · 15 citations