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Ontology Browser
Term:
Leydig cell hypoplasia type I (DOID:0112260)
Annotations: Rat: (1) Mouse: (1) Human: (2) Chinchilla: (1) Bonobo: (1) Dog: (2) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Leydig cell hypoplasia type I  
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. (DO)
Leydig cell hypoplasia type II  

Synonyms
Exact Synonyms: 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 ;   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 ;   LEYDIG HYPOPLASIA, TYPE I ;   Leydig Cell Hypoplasia, Complete ;   Leydig Cell Hypoplasia, Type 1 ;   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
Xrefs: ORDO:96265
Definition Sources: https://pubmed.ncbi.nlm.nih.gov/10714363/ "DO" "DO", https://pubmed.ncbi.nlm.nih.gov/11041448/ "DO" "DO"

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