The Desert Hedgehog Signalling Pathway in Human Gonadal Development and Differences of Sex Development

Svenja Pachernegg; Elizabeth Georges; Katie Ayers

doi:10.1159/000518308

The Desert Hedgehog Signalling Pathway in Human Gonadal Development and Differences of Sex Development

Sex Dev. 2022;16(2-3):98-111. doi: 10.1159/000518308. Epub 2021 Sep 8.

Authors

Svenja Pachernegg^{1

2}, Elizabeth Georges², Katie Ayers^{1

2}

Affiliations

¹ Reproductive Development Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
² Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.

PMID: 34518472
DOI: 10.1159/000518308

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.

Keywords: Desert hedgehog; Differences of sex development; Gonadal dysgenesis; Testis development.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Gonadal Dysgenesis, 46,XY*
Gonads / metabolism
Hedgehog Proteins* / genetics
Hedgehog Proteins* / metabolism
Humans
Sexual Development

Substances

Hedgehog Proteins