Leydig cell hypoplasia

Term ID

DOID:0112259

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. (2)

References

• GARD:3244
• MEDDRA:10024406
• MESH:C562567
• ORDO:755

Ontology

Human Disease   ( DOID:0112259 )