Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status

    Vita Dolžan, Janez Prezelj, B. Vidan-Jeras, Katja Breskvar
    Studysummary This study concluded that neither basal nor ACTH-stimulated 17-OHP concentrations effectively indicate carrier status for 21-hydroxylase deficiency among Slovenian hyperandrogenic women, recommending molecular analysis of the CYP21 gene for reliable screening.
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    Research cited in this study 2

    1. Prevalence of Polycystic Ovary Syndrome in Unselected Black and White Women of the Southeastern United States: A Prospective Study The Journal of Clinical Endocrinology and Metabolism · 1998
    2. Carriers of 21-Hydroxylase Deficiency Are Not at Increased Risk for Hyperandrogenism The Journal of Clinical Endocrinology and Metabolism · 1997

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    1. 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