Complete androgen insensitivity syndrome

This code represents a genetic disorder in individuals with an XY karyotype where the body's cells are unable to respond to androgens (male hormones). Despite having testes that produce testosterone, the insensitivity prevents the development of typical male external genitalia, leading to a female external phenotype. Internally, these individuals lack a uterus and ovaries but possess undescended or partially descended testes.

Use this code for patients diagnosed with complete androgen insensitivity syndrome (CAIS), characterized by a 46,XY karyotype, female external genitalia, absent or rudimentary Müllerian structures, and intra-abdominal or inguinal testes. Documentation should clearly state the diagnosis of complete androgen insensitivity, often confirmed by genetic testing and hormonal assays.

• Differentiate from partial androgen insensitivity syndrome (PAIS), which has a different code.
• Ensure documentation specifies "complete" to support the use of this specific code.
• Consider sequencing this code as a primary diagnosis when it is the reason for the encounter, especially for diagnostic workups or management of associated conditions.