Term Name: | hypogonadotropic hypogonadism 23 with or without anosmia |
---|---|
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. |
Ontology: | Human Disease [DOID:0090091] ( DOID:0090091 ) |