Leydig cell hypoplasia type I

Term ID

DOID:0112260

Synonyms

• 46,XY disorder of sex development due to complete LH receptor inactivation
• 46,XY disorder of sex development due to complete LH resistance
• 46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation
• 46,XY disorder of sex development due to complete luteinizing hormone resistance
• 46,XY DSD due to complete LH receptor inactivation
• 46,XY DSD due to complete LH resistance
• 46,XY DSD due to complete luteinizing hormone receptor inactivation
• 46,XY DSD due to complete luteinizing hormone resistance
• Leydig cell hypoplasia due to complete LH receptor inactivation
• Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation
• Leydig cell hypoplasia due to complete luteinizing hormone resistance

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. (2)

References

• OMIM:238320
• ORDO:96265

Ontology

Human Disease   ( DOID:0112260 )