Conditions / Genetic

Leydig cell hypoplasia type II

info ยท Genetic

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.

Also known as: 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; 46,XY disorder of sex development due to partial LH receptor inactivation; 46,XY disorder of sex development due to partial LH resistance