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.
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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.
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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.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” This study explains that congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents as a continuous phenotype and involves symptoms ranging from virilization to accelerated growth in children, with diagnosis relying on clinical, biochemical, and genetic evaluation.