Term Name: | Leydig cell hypoplasia type II |
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Synonyms: | 46,XY disorder of sex development due to partial LH receptor inactivation, 46,XY disorder of sex development due to partial LH resistance, 46,XY disorder of sex development 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 |
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. |
Ontology: | Human Disease [DOID:0112261] ( DOID:0112261 ) |