hypogonadotropic hypogonadism 23 with or without anosmia (DOID:0090091)
Alliance: disease page
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
Alt IDs: OMIM:228300, ICD10CM:Q56.1, ORDO:325448
Definition: A hypogonadotropic hypogonadism that has_material_basis_in homozygous or compound heterozygous mutation in the LHB gene on chromosome 19q13.