Term Name: | Leydig cell hypoplasia |
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Synonyms: | 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, 46,XY DSD due to LH resistance or LHB deficiency, 46,XY DSD 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. |
Ontology: | Human Disease [DOID:0112259] ( DOID:0112259 ) |