41 citations
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January 2000 in “Hormone Research in Paediatrics” In this case study, a 55-year-old woman with androgenetic alopecia was ultimately diagnosed with hepatic cortisone reductase deficiency after initially suspected 21-hydroxylase deficiency was ruled out.
81 citations
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July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
June 2026 in “Quality in Sport” This study reviewed the current understanding of congenital adrenal hyperplasia from 21-hydroxylase deficiency, highlighting the impact of universal newborn screening in reducing mortality and discussing ongoing treatment challenges and future therapeutic prospects.
4 citations
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July 2022 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.
February 2017 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” Hair cortisol measurement is a promising, non-invasive tool for monitoring cortisol exposure over time.