Management of the Female With Non-Classical Congenital Adrenal Hyperplasia: A Patient-Oriented Approach

June 2019 in “ Frontiers in Endocrinology ”

Sarantis Livadas, Christina Bothou

non-classical congenital adrenal hyperplasia NCCAH hyperandrogenism hirsutism acne alopecia hydrocortisone oral contraceptives antiandrogens glucocorticoid therapy genetic testing Synacthen test hair loss birth control pills ACTH stimulation test

TLDR The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.

The document provides a comprehensive overview of the management of non-classical congenital adrenal hyperplasia (NCCAH) in females, highlighting the importance of a patient-oriented approach. It discusses the challenges in diagnosing NCCAH due to its symptoms often being mistaken for other hyperandrogenic disorders and recommends the Synacthen test and molecular testing for accurate diagnosis. Treatment goals include regular menstrual cycles, reduced hirsutism and acne, and improved fertility, with hydrocortisone treatment for severe hyperandrogenism, and oral contraceptives and/or antiandrogens for hirsutism and acne. A study within the document found that 4.2% of 950 hyperandrogenic women had NCCAH, with a high prevalence of hirsutism and increasing alopecia with age. Management involves glucocorticoid therapy, with concerns about long-term adverse effects and subfertility, which is significant in NCCAH patients. The document also covers fertility issues, genetic testing, and treatment during pregnancy, noting an 11% infertility incidence and recommending glucocorticoid therapy to reduce miscarriage rates. It stresses the need for individualized treatment, genetic counseling, and psychological support, and calls for physicians to stay updated with the latest developments and integrate new information into clinical practice. The ideal management includes a multidisciplinary approach with specialists such as dermatologists, gynecologists, and psychologists, and emphasizes lifestyle improvements and psychological support.

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Research cited in this study

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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

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A Prospective Study of the Prevalence of Nonclassical Congenital Adrenal Hyperplasia Among Women Presenting with Hyperandrogenic Symptoms and Signs

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