Leydig cell hypoplasia

Summary
Synonym
  • 46,XY DSD due to LH resistance or LHB deficiency
  • 46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
  • 46,XY disorder of sex development due to LH resistance or LHB deficiency
  • 46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency
Definition
A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3.
Super Class
autosomal recessive disease pseudohermaphroditism
Disease Ontology
DOID:0112259
Mondo Disease Ontology
MeSH
ORDO
GARD
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3973 LHCGR luteinizing hormone/choriogonadotropin receptor
Displaying 1 entry
Gene ID Gene Symbol Description Source
16867 Lhcgr luteinizing hormone/choriogonadotropin receptor
Displaying 1 entry
Gene ID Gene Symbol Description Source
25477 Lhcgr luteinizing hormone/choriogonadotropin receptor

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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Last updated: December 9, 2024