29 citations
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January 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a compound heterozygous mutation in the 3 beta-HSD gene that confirmed inherited 3 beta-HSD deficiency in a Pakistani child with salt-wasting congenital adrenal hyperplasia.
46 citations
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August 2006 in “PubMed” In this study, researchers identified and examined males with 17 beta-HSD3 deficiency in a highly inbred Arab population, noting genetic findings and the progression of male characteristics despite being raised as females initially.
June 2025 in “Journal of Kufa for Chemical Sciences” In this study, researchers observed increased hormone levels such as testosterone and LH in both obese and non-obese women with Polycystic Ovary Syndrome, but concluded that the enzyme 3βHSD shows poor diagnostic value for PCOS compared to healthy women.
31 citations
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August 2001 in “PubMed” This review discusses the role of androgen metabolism in hair follicles and its potential impact on future treatments for androgenetic alopecia, but reports no clinical results.
354 citations
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August 1991 in “Molecular Endocrinology” This study found that distinct isoenzymes of 3 beta-hydroxysteroid dehydrogenase are expressed in human adrenals and gonads compared to the placenta and skin.