hypogonadotropic hypogonadism 23 with or without anosmia

Summary
Synonym
  • 46,XY DSD due to LHB deficiency
  • 46,XY DSD due to luteinizing hormone subunit beta deficiency
  • 46,XY disorder of sex development due to LHB deficiency
  • 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
  • Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
  • Pasqualini syndrome
  • fertile eunuch syndrome
  • leydig cell hypoplasia due to LHB deficiency
Definition
A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.
Super Class
autosomal recessive disease hypogonadotropic hypogonadism
Disease Ontology
DOID:0090091
Mondo Disease Ontology
ORDO
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
3972 LHB luteinizing hormone subunit beta
Displaying 1 entry
Gene ID Gene Symbol Description Source
25329 Lhb luteinizing hormone subunit beta

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024