Partial androgen insensitivity syndrome

Definition

Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development (DSD) distinct from complete AIS (CAIS) characterized by the presence of abnormal genital development in a 46,XY individual with normal testis development and partial responsiveness to age-appropriate levels of androgens.

Also known as androgen insensitivity, partial, androgen insensitivity, partial, with or without breast cancer, androgen insensitivity, partial, with or without breast cancer, X-linked recessive, familial incomplete Male pseudohermaphroditism, type 1, PAIS, partial androgen resistance syndrome, pseudohermaphroditism, incomplete male, type I, Reifenstein syndrome, Reifenstein syndrome, partial — per MONDO

Also identified as

• DOID 0080776 per MONDO
• ICD10CM E34.52 per MONDO
• MESH C538435 per MONDO
• NCIT C120192 per MONDO
• OMIM 307300 per MONDO
• OMIM 312100 per MONDO
• OMIM 312300 per MONDO
• Orphanet 90797 per MONDO
• SCTID 122811000119101 per MONDO
• UMLS C0268301 per MONDO

Affected Organs