hypogonadotropic hypogonadism 23 with or without anosmia

Term ID

DOID:0090091

Synonyms

• 46,XY disorder of sex development due to LHB deficiency
• 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
• 46,XY DSD due to LHB deficiency
• 46,XY DSD due to luteinizing hormone subunit beta deficiency
• fertile eunuch syndrome
• leydig cell hypoplasia due to LHB deficiency
• Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
• Pasqualini syndrome

Definition

A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13. (2)

References

• ICD10CM:Q56.1
• OMIM:228300
• ORDO:325448

Ontology

Human Disease   ( DOID:0090091 )