| Metadata | |
|---|---|
| ID | DOID:0112260 |
| Name | Leydig cell hypoplasia type I |
| 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. https://pubmed.ncbi.nlm.nih.gov/10714363/, https://pubmed.ncbi.nlm.nih.gov/11041448/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
46,XY disorder of sex development due to complete LH receptor inactivation [EXACT] 46,XY disorder of sex development due to complete LH resistance [EXACT] 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation [EXACT] 46,XY disorder of sex development due to complete luteinizing hormone resistance [EXACT] 46,XY DSD due to complete LH receptor inactivation [EXACT] 46,XY DSD due to complete LH resistance [EXACT] 46,XY DSD due to complete luteinizing hormone receptor inactivation [EXACT] 46,XY DSD due to complete luteinizing hormone resistance [EXACT] Leydig cell hypoplasia due to complete LH receptor inactivation [EXACT] Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation [EXACT] Leydig cell hypoplasia due to complete luteinizing hormone resistance [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |