8 citations
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December 2022 in “International journal of molecular sciences” This review discusses phenotypic differences in testosterone production between mice and humans with HSD17B3 deficiency and reports no new findings; the authors highlight potential pathways and enzymes involved in testosterone synthesis.
1 citations
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January 2017 in “Tohoku journal of experimental medicine” This study reports the first case of ovarian mature cystic teratoma linked to clinical virilization due to ectopic testosterone production, possibly from overexpression of the enzyme HSD17B5.
70 citations
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April 2014 in “Annales d'endocrinologie” This review discusses the pathways of androgen biosynthesis and reports no new findings, highlighting the need to understand the interplay between the classic and backdoor pathways.
13 citations
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June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of sex development disorders.