February 2026 in “Frontiers in Endocrinology” In this case study, a woman with congenital adrenal hyperplasia experienced substantial improvement in musculoskeletal and neurobehavioral symptoms after low-dose testosterone therapy, highlighting its potential role in managing chronic glucocorticoid overtreatment effects.
151 citations
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December 2004 in “Annals of the New York Academy of Sciences” This review discusses nonclassical 21-hydroxylase deficiency as the most common autosomal recessive disorder in humans and highlights the effectiveness of glucocorticoid treatment in reversing related symptoms.
2 citations
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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.
July 2017 in “Contemporary Endocrinology” 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.
62 citations
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March 2011 in “European journal of endocrinology” This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.