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Leydig cell hypoplasia
Pathology:
- marked immaturity of the Leydig cells
Genetics:
- autosomal recessive
- associated with defects in LHCGR
Clinical manifestations:
- male pseudohermaphroditism
- testes are small
Laboratory:
- undetectable plasma testosterone levels
- elevated plasma gonadotropins
Related
Leydig cell
General
genetic disease of the endocrine system
pseudohermaphroditism; indeterminate sex; gynandrism
Database Correlations
OMIM 152790
References
UniProt :accession P22888