Increased Expression of<i>ZFPM2</i>Bypasses<i>SRY</i>to Drive 46,XX Testicular Development: A New Mechanism of 46,XX DSD

Abstract excerpt

We present a patient with a novel cause of 46,XX ambiguous/androgenous genitalia Differences of Sex Development (DSD). Genome-wide array from blood showed 46,XX with ∼35% mosaic duplication of 76.5 Mb at chromosome 8q13.2-q24.3, containing 257 OMIM genes including ZFPM2 and CYP11B1 . Congenital adrenal hyperplasia testing was negative, testosterone was elevated, and the pro-testicular master regulator SRY was abse...

Topics

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• Disorder of Sex Development, 46,XY
• DNA-Binding Proteins
• GATA4 Transcription Factor
• HEK293 Cells
• Promoter Regions, Genetic
• Protein Binding
• Transcription Factors
• Zinc Fingers

Identifiers and source

Literature Corpus work

b32bad3d-7423-578b-a1de-42f1e56c037c

DOI

10.1101/2024.05.27.24307993