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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 LHCGR on chromosome 2p16.3.
https://pubmed.ncbi.nlm.nih.gov/10714363/, https://pubmed.ncbi.nlm.nih.gov/11041448/
Xrefs

OMIM:238320

ORDO:96265

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

is_a Leydig cell hypoplasia

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