13 citations
,
June 2006 in “Fertility and Sterility” This research identified nonclassic 21-hydroxylase deficiency as the most common genetic autosomal recessive disorder in humans, particularly among certain ethnic groups, and found that treatment effectively reverses symptoms within months.
5 citations
,
May 2019 in “Hormone and Metabolic Research” This study reported that in embryo transfer cycles for women with nonclassic 21-hydroxylase deficiency, dexamethasone use was associated with improved pregnancy rates, and maintaining a BMI below 23.36 kg/m² increased pregnancy probabilities.
Among females with nonclassical 21-hydroxylase deficiency, this study found that low-dose glucocorticoid treatment improved fertility outcomes by increasing pregnancy and live birth rates while reducing miscarriage rates.
117 citations
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May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
25 citations
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September 2015 in “Clinical Endocrinology” This study found that diagnosing nonclassic congenital adrenal hyperplasia in women based solely on serum 17OHP measurements can lead to false positives, suggesting the need for urinary steroid profiles and genetic testing for confirmation.
