Human genes for Leydig cell hypoplasia type I
Leydig cell hypoplasia type I [DOID:0112260]
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 LHCGR on chromosome 2p16.3.
Synonyms: Leydig cell hypoplasia type I, DOID:0112260, Leydig cell hypoplasia type Is, 46,XY disorder of sex development due to complete LH receptor inactivation, 46,XY disorder of sex development due to complete LH resistance ...