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

More general terms

• genetic disease of the endocrine system
• pseudohermaphroditism; indeterminate sex; gynandrism

Additional terms

• Leydig cell

Database

• OMIM: https://mirror.omim.org/entry/152790