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The Nonclassic Adrenal Hyperplasias

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Androgen Excess Disorders in Women

Part of the book series: Contemporary Endocrinology ((COE))

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Abstract

Nonclassic adrenal hyperplasia (NCAH) resulting from 11β-hydroxylase or 3β-hydroxysteroid dehydrogenase is very rare and may not even exist in women presenting with hyperandrogenism in adulthood. Consequently, screening for these disorders in hyperandrogenic patients is not generally necessary. Alternatively, 21-hydroxylase (21-OH)-deficient NCAH has been increasingly recognized in adolescent or adult hyperandrogenic patients. It is now widely accepted that neither clinical presentation nor androgen plasma levels can be used for the screening or diagnosis of 21-OH-deficient NCAH in hyperandrogenic women, especially those presenting with a polycystic ovary syndrome (PCOS)-like phenotype. Therefore, the measurement of a follicular morning level of serum 17α-hydroxyprogesterone (17-OHP) should be included in the initial investigation of all hyperandrogenic women, including those with premature pubarche. A basal screening level of 17-OHP of more than 2–4 ng/mL mandates an acute adrenocorticotropic hormone (ACTH) stimulation test to confirm the diagnosis. A post-ACTH stimulation 17-OHP level of 10–12 ng/mL is consistent with the diagnosis of NCAH. The diagnosis of 21-OH-deficient NCAH has important implications for preconception counseling and potentially for the prevention of adrenal insufficiency during illness or surgery.

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Authors and Affiliations

  1. Service d’eEndocrinologie et Diabetologie, Department of Endocrine Gynaecology and Reproductive Medicine, Hopital Jeanne de Flandre, Centre Hospitalier et Universitaire de Lille, Lille, France

    Didier Dewailly

  2. Department of Obstetrics and Gynecology, Cedars-Sinai Medical Center; Department of Obstetrics and Gynecology, and Department of Medicine, The David Geffen School of Medicine at University of California, Los Angeles, CA

    Ricardo Azziz

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  1. Didier Dewailly
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Editors and Affiliations

  1. Center for Androgen Related Disorders, Cedars-Sinai Medical Center; and Department of Obstetrics and Gynecology, and Department of Medicine, The David Geffen School of Medicine at UCLA, Los Angeles, CA

    Ricardo Azziz MD, MPH, MBA

  2. Department of Internal Medicine, Virginia Commonwealth University, Richmond, VA

    John E. Nestler MD

  3. Department of Endocrine Gynaecology and Reproductive Medicine, Lille University Hospital, Lille, France

    Didier Dewailly MD

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Dewailly, D., Azziz, R. (2006). The Nonclassic Adrenal Hyperplasias. In: Azziz, R., Nestler, J.E., Dewailly, D. (eds) Androgen Excess Disorders in Women. Contemporary Endocrinology. Humana Press. https://doi.org/10.1007/978-1-59745-179-6_8

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