Term Name: | partial androgen insensitivity syndrome |
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Synonyms: | Reifenstein syndrome |
Definition: | An androgen insensitivity syndrome that is characterized by a 46,XY karyotype and testes that produce age-appropriate androgen levels but have undermasculinized external genitalia due to defects in androgen action. |
Ontology: | Human Disease [DOID:0080776] ( DOID:0080776 ) |