ICD10 code of Androgen Insensitivity Syndrome and ICD9 code

Androgen Insensitivity Syndrome (AIS) is classified under ICD-10 code E34.5 (Androgen resistance syndrome), while the older ICD-9-CM system categorized it under code 259.8 (Other specified disturbances of glandular secretion). These codes are used by healthcare providers and insurance companies to identify Androgen Insensitivity Syndrome for clinical documentation and billing purposes.

What is Androgen Insensitivity Syndrome?

Androgen Insensitivity Syndrome is a rare genetic condition in which an individual who is chromosomally male (46,XY) is unable to respond to androgens, the hormones responsible for masculine physical development. Depending on the level of receptor sensitivity, Androgen Insensitivity Syndrome typically presents as either Complete Androgen Insensitivity Syndrome (CAIS), Partial Androgen Insensitivity Syndrome (PAIS), or Mild Androgen Insensitivity Syndrome (MAIS).

How is Androgen Insensitivity Syndrome categorized clinically?

The clinical spectrum of Androgen Insensitivity Syndrome is defined by the degree of androgen receptor dysfunction. Because the condition affects sexual development, accurate coding is essential for multidisciplinary care. The classification system generally includes:

• Complete Androgen Insensitivity Syndrome (CAIS): External genitalia appear typically female.


• Partial Androgen Insensitivity Syndrome (PAIS): External genitalia may be ambiguous or predominantly male/female depending on receptor function.


• Mild Androgen Insensitivity Syndrome (MAIS): Primarily presents as undervirilization in phenotypic males.

Is Androgen Insensitivity Syndrome hereditary?

Yes, Androgen Insensitivity Syndrome is an X-linked recessive disorder. It is caused by mutations in the AR gene, which provides instructions for making the androgen receptor. Because the gene is located on the X chromosome, individuals with one X chromosome (males) who inherit the mutation will express the syndrome, while individuals with two X chromosomes (females) who carry the mutation are typically asymptomatic carriers.

What are the diagnostic pathways for Androgen Insensitivity Syndrome?

Diagnosis of Androgen Insensitivity Syndrome involves a combination of hormone level testing, physical examination, and molecular genetic testing. At DiseaseMaps.org, we have seen 3 people with Androgen Insensitivity Syndrome share their personal diagnostic journeys, highlighting the importance of specialized endocrinology and genetic counseling in navigating this complex condition.

Next steps

• Consult a pediatric endocrinologist or a specialist in reproductive endocrinology.


• Seek genetic counseling to understand the inheritance pattern and implications for family members.


• Connect with the community at DiseaseMaps.org to find support from others living with Androgen Insensitivity Syndrome.


• Review clinical trial databases for ongoing research regarding androgen receptor therapies.

Medical disclaimer: This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment; always consult with your primary healthcare provider regarding your specific health needs.

References

• NIH Genetic and Rare Diseases Information Center (GARD): Androgen Insensitivity Syndrome


• Orphanet: ORPHA64 - Androgen Insensitivity Syndrome


• OMIM (Online Mendelian Inheritance in Man): #300068 - Androgen Insensitivity Syndrome


• The Androgen Insensitivity Syndrome Support Group (AISSG)