Leydig cell hypoplasia type I (DOID:0112260)
Alliance: disease page
Synonyms: 46,XY disorder of sex development due to complete LH receptor inactivation; 46,XY disorder of sex development due to complete LH resistance; 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation; 46,XY disorder of sex development due to complete luteinizing hormone resistance; 46,XY DSD due to complete LH receptor inactivation; 46,XY DSD due to complete LH resistance; 46,XY DSD due to complete luteinizing hormone receptor inactivation; 46,XY DSD due to complete luteinizing hormone resistance; Leydig cell hypoplasia due to complete LH receptor inactivation; Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation; Leydig cell hypoplasia due to complete luteinizing hormone resistance
Alt IDs: OMIM:238320, ORDO:96265
Definition: A Leydig cell hypoplasia characterized by 46,XY male pseudohermaphroditism, low testosterone and high LH levels, total lack of responsiveness to LH/CG challenge, lack of breast development, and absent development of secondary male sex characteristics that has_material_basis_in homozygous or compound heterozygous complete inactivation mutation in the LHCGR gene on chromosome 2p16.3.