Partial androgen insensitivity syndrome

This code represents a genetic disorder affecting sexual development in individuals with XY chromosomes. It occurs when the body's cells are partially unable to respond to androgens (male hormones), leading to a spectrum of phenotypes ranging from predominantly female external genitalia with internal testes to male-typical external genitalia with infertility.

Use this code for patients diagnosed with partial androgen insensitivity syndrome, characterized by ambiguous genitalia at birth, virilization at puberty, or infertility in an individual with XY chromosomes and internal testes. Documentation should clearly state the diagnosis of partial AIS, often supported by genetic testing confirming an androgen receptor gene mutation and clinical presentation.

• Differentiate from complete androgen insensitivity syndrome (CAIS), which presents with female external genitalia and is coded separately.
• Ensure documentation specifies "partial" to support this specific code, as other forms of androgen insensitivity exist.
• Consider sequencing this code as a primary diagnosis when it is the reason for the encounter, especially for diagnostic workup or management of the condition.