Leydig cell hypoplasia type II (DOID:0112261)
Alliance: disease page
Synonyms: 46,XY disorder of sex developement due to partial LH receptor inactivation; 46,XY disorder of sex developement due to partial LH resistance; 46,XY disorder of sex developement due to partial luteinizing hormone resistance; 46,XY DSD due to partial LH receptor inactivation; 46,XY DSD due to partial LH resistance; 46,XY DSD due to partial luteinizing hormone resistance; Leydig cell hypoplasia due to partial LH receptor inactivation; Leydig cell hypoplasia due to partial LH resistance; Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation; Leydig cell hypoplasia due to partial luteinizing hormone resistance
Alt IDs: ORDO:96266
Definition: A Leydig cell hypoplasia characterized by variable features ranging from micropenis to severe hypospadias and bifid scrotum that has_material_basis_in homozygous or compound heterozygous partial inactivation mutation in the LHCGR gene on chromosome 2p16.3.