Androgen insensitivity syndrome, unspecified

This code represents a congenital condition where an individual with a 46,XY karyotype is unable to respond to androgens (male hormones). Despite having testes that produce testosterone, the body's cells do not react to it, leading to a spectrum of presentations ranging from a female external phenotype to undervirilization in males. This insensitivity results from genetic mutations affecting the androgen receptor.

This code is appropriate for documenting cases of androgen insensitivity syndrome where the specific type (e.g., complete, partial, mild) is not specified in the medical record. It is used when a patient presents with clinical features consistent with AIS, such as primary amenorrhea, absent uterus, inguinal gonads, or ambiguous genitalia, and diagnostic workup confirms the condition without further sub-classification. Documentation should clearly state "androgen insensitivity syndrome" without additional detail regarding its severity or specific genetic cause.

• Do not use this code if the documentation specifies complete, partial, or mild androgen insensitivity syndrome; use the more specific codes available.
• Consider sequencing this code after any presenting symptoms or related conditions, such as primary amenorrhea (N91.0) or disorders of sexual development (Q56.4).
• Ensure the medical record clearly indicates a diagnosis of androgen insensitivity syndrome, even if the specific type is not detailed.