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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. Congenital Adrenal Hyperplasia-Current Insights in Pathophysiology, Diagnostics, and Management. PubMed · 2022 · 188 citations
    2. Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management Endocrine Reviews · 2021 · 157 citations
    3. An Update of Congenital Adrenal Hyperplasia Annals of the New York Academy of Sciences · 2004 · 151 citations
    4. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2011 · 100 citations
    5. Congenital Adrenal Hyperplasia Journal of Pediatric and Adolescent Gynecology · 2017 · 88 citations
    6. Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia Journal of the American Academy of Dermatology · 1994 · 32 citations
    7. 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
    8. Congenital adrenal hyperplasia Dermato-endocrinology · 2009 · 26 citations
    9. Congenital adrenal hyperplasia Dermatologic Therapy · 2008 · 16 citations
    10. Reproductive outcomes of female patients with congenital adrenal hyperplasia due to 21-hydroxylase defi ciency Indian Journal of Endocrinology and Metabolism · 2013 · 14 citations
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