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Updated: Oct 20, 2025

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Published on: January 31, 2025
The Desert Hedgehog Signalling Pathway in Human Gonadal Development and Differences of Sex Development
Svenja Pachernegg1,2, Elizabeth Georges2, Katie Ayers1,2
1Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Abstract:
While the Hedgehog signalling pathway is implicated in numerous developmental processes and maladies, variants in the Desert Hedgehog (DHH) ligand underlie a condition characterised by 46,XY gonadal dysgenesis with or without peripheral neuropathy. We discuss here the role and regulation of DHH and its signalling pathway in the developing gonads and examine the current understanding of how disruption to this pathway causes this difference of sex development (DSD) in humans.
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