October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
October 2024 in “Journal of the Endocrine Society” This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.
This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
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September 2019 in “Acta Cardiologica” This study found that premenopausal women with non-classic congenital adrenal hyperplasia may have increased cardiometabolic risk compared to healthy women.
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November 2022 in “Journal of the Endocrine Society” This study found that US adults with classic congenital adrenal hyperplasia most preferred a hypothetical adjunctive therapy that prevents glucocorticoid-induced weight gain over other potential benefits.
