Leydig cell hypoplasia type II

Term ID

DOID:0112261

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. https://pubmed.ncbi.nlm.nih.gov/11041448/

References

• ORDO:96266

Ontology

Human Disease   ( DOID:0112261 )