Female with 46, XY karyotype

This code identifies a genetic condition in individuals who are phenotypically female but possess a male (46, XY) chromosomal complement. This typically indicates a disorder of sex development (DSD) where external female genitalia develop despite the presence of Y chromosome material. It often involves conditions like complete androgen insensitivity syndrome (CAIS) or Swyer syndrome.

Use this code for patients presenting with female external characteristics but whose genetic testing confirms a 46, XY karyotype. This is applicable in cases of primary amenorrhea, ambiguous genitalia at birth, or infertility investigations where chromosomal analysis reveals this specific discrepancy. Documentation must clearly state the karyotype result and the phenotypic presentation.

• Always confirm the documented karyotype result (46, XY) and the patient's phenotypic sex (female).
• Do not confuse with other disorders of sex development (DSDs) that involve different karyotypes or phenotypic presentations.
• Sequence this code as a primary diagnosis when it is the reason for the encounter or a significant finding impacting care. Consider additional codes for specific underlying conditions (e.g., androgen insensitivity syndrome) if known.