partial androgen insensitivity syndrome

Term ID

DOID:0080776

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. https://pubmed.ncbi.nlm.nih.gov/26303084/

References

• GARD:5692
• OMIM:312300
• ORDO:90797

Ontology

Human Disease   ( DOID:0080776 )