E34.5

Clinical Information

• A disorder also known as complete androgen insensitivity syndrome cais). The 46,xy genetic male totally lacks androgen responsiveness in the target organs thus exhibits a female phenotype.

• A disorder of sexual development in persons with 46xy karyotype, characterized by an abnormality of the genes encoding androgen receptors. It results in a female sex appearance or the development of both male and female characteristics.

• A disorder of sexual development transmitted as an x-linked recessive trait. These patients have a karyotype of 46,xy with end-organ resistance to androgen due to mutations in the androgen receptor receptors, androgen) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in reifenstein syndrome, to that of a normal male with infertility.

• Aspects of female morphology in a xy genotype caused by defects in cellular receptors for testosterone and dihydrotestosterone, transmitted as an x-linked trait.

• Sexual ambiguity in males due to a sexual differentiation disorder caused by testicular failure to respond to androgens. The affected males have abdominal and inguinal testes, female external genitalia and breasts, blind vaginas, and absent uteri. Some patients have absent pubic and axillary hair, hence the synonym “hairless pseudofemale.” mental retardation occurs in some cases.

Details

• E34.5 should not be used for reimbursement purposes as there are multiple codes below it that contain a greater level of detail.

• The 2023 edition of ICD-10-CM E34.5 became effective on October 1, 2022.

• This is the American ICD-10-CM version of E34.5 – other international versions of ICD-10 E34.5 may differ.