FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Leydig cell hypoplasia ID (Ontology) DOID:0112259 (Human Disease)
Definition A pseudohermaphroditism that has_material_basis_in homozygous or compound heterozygous mutation in the LHCGR gene on chromosome 2p16.3.
Also Known As "46,XY disorder of sex development due to LH resistance or LHB deficiency" ; "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" ; "46,XY DSD due to LH resistance or LHB deficiency" (for all, see Synonyms field below)
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Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disorder of sexual development   |
 |__pseudohermaphroditism________|
                                 Leydig cell hypoplasia  1 rec.
                                  |__Leydig cell hypoplasia type I 1 rec.
                                  |__Leydig cell hypoplasia type II
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Is a autosomal recessive disease
pseudohermaphroditism
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Synonyms
  • "46,XY disorder of sex development due to LH resistance or LHB deficiency" EXACT
    "46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT
    "46,XY DSD due to LH resistance or LHB deficiency" EXACT
    "46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency" EXACT
Secondary IDs
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GARD:3244
MEDDRA:10024406
MESH:C562567
ORDO:755