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    Glossary Congenital Adrenal Hyperplasia

    genetic disorder causing adrenal gland hormone imbalances

    Congenital Adrenal Hyperplasia (CAH) is a group of genetic disorders affecting the adrenal glands, which are responsible for producing hormones like cortisol and aldosterone. In CAH, enzyme deficiencies lead to an overproduction of androgens (male sex hormones), causing symptoms such as ambiguous genitalia in newborns, early puberty, and excessive hair growth. Treatment typically involves hormone replacement therapy to balance hormone levels.

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    1. Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia The Journal of Sexual Medicine · 2019 · 11 citations
    2. Hyperandrogenism in polycystic ovary syndrome and adrenal hyperplasia: finding differences to make a specific diagnosis Archives of Gynecology and Obstetrics · 2025 · 7 citations
    3. Sexual function in women with androgen excess disorders: classic forms of congenital adrenal hyperplasia and polycystic ovary syndrome Journal of Endocrinological Investigation · 2020 · 5 citations
    4. Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report Curēus · 2022 · 1 citations
    5. Clinical, Biochemical and Molecular Characteristics of Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Journal of Clinical Research in Pediatric Endocrinology · 2024
    6. Hyperadrenocorticism associated with adrenocortical tumor or nodular hyperplasia of the adrenal gland in ferrets: 50 cases (1987-1991) Journal of the American Veterinary Medical Association · 1993 · 83 citations
    7. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    8. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2017 · 88 citations
    9. Nonclassic adrenal hyperplasia Reviews in endocrine and metabolic disorders · 2008 · 55 citations
    10. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    11. Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency Indian Journal of Endocrinology and Metabolism · 2013 · 14 citations
    12. Congenital Adrenal Hyperplasia Pediatrics in Review · 2009 · 13 citations
    13. 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
    14. Management Approaches to Congenital Adrenal Hyperplasia in Adolescents and Adults; Latest Therapeutic Developments InTech eBooks · 2011 · 7 citations
    15. Challenges in treatment of patients with non-classic congenital adrenal hyperplasia Frontiers in Endocrinology · 2022 · 4 citations
    16. Diagnostic imaging in congenital adrenal hyperplasia – how does it help? Clinical endocrinology and metabolism journal · 2020 · 3 citations
    17. Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency epidemiology, etiopathogenesis, clinical presentation, treatment – a systematic review Quality in Sport · 2026
    18. 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
    19. FRI220 Primary Bilateral Macronodular Adrenal Hyperplasia: A Rare Cause Of Cushing Syndrome Journal of the Endocrine Society · 2023
    20. Congenital Adrenal Hyperplasia IntechOpen eBooks · 2022
    21. Genetics and Pathophysiology of Congenital Adrenal Hyperplasia Contemporary Endocrinology · 2017
    22. Common Forms of Congenital Adrenal Hyperplasia Elsevier eBooks · 2017
    23. Hiperplasia supra-renal congénita e mielolipoma adrenal - relação causal ou acidental? Revista Portuguesa de Endocrinologia Diabetes e Metabolismo · 2011
    24. Adrenal Cortex Tumors and Hyperplasias InTech eBooks · 2011 · 2 citations
    25. Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management. PubMed · 2022 · 188 citations
    26. Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management Endocrine Reviews · 2021 · 157 citations
    27. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    28. Non-classic congenital adrenal hyperplasia Steroids · 2013 · 42 citations
    29. Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia Journal of the American Academy of Dermatology · 1994 · 32 citations
    30. A new compound heterozygous frameshift mutation in the type II 3 beta-hydroxysteroid dehydrogenase (3 beta-HSD) gene causes salt-wasting 3 beta-HSD deficiency congenital adrenal hyperplasia. The Journal of Clinical Endocrinology & Metabolism · 1996 · 29 citations