Genetics and Pathophysiology of Congenital Adrenal Hyperplasia

    July 2017 in “ Contemporary Endocrinology ”
    Selma F. Witchel
    Studysummary This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.
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    Research cited in this study 5

    1. Can AMH Levels Distinguish LOCAH from PCOS Among Hirsute Women? European Journal of Obstetrics & Gynecology and Reproductive Biology · 2014
    2. Phenotypic Profiling of Parents With Cryptic Nonclassic Congenital Adrenal Hyperplasia: Findings in 145 Unrelated Families European journal of endocrinology · 2011
    3. Visually Scoring Hirsutism Human reproduction update · 2009
    4. 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
    5. Untreated Congenital Adrenal Hyperplasia Presenting with Severe Androgenic Alopecia Journal of the Royal Society of Medicine · 1993