Article

Biallelic <i>CYB5A</i> disruptions in 46,XY Disorder of Sex Development: Identification and Characterization of a Novel Deep Intronic Variant

2026-05-12

Abstract excerpt

<h4>Background</h4> The diagnostic yield for 46,XY disorders of sex development (DSD) remains limited. Whole-genome sequencing (WGS) improves detection of both coding and non-coding variants that may be missed by routine testing. Cytochrome b5, encoded by CYB5A, is an essential co-factor for CYP17A1-mediated 17,20-lyase activity. We report on WGS on a Vietnamese family with 46,XY DSD with two siblings presenting...

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Literature Corpus work: 1a9c9260-8db2-5860-a69b-93cdddd7c328
DOI: 10.64898/2026.05.05.26352416

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