Androgen insensitivity syndrome
ICD-10 E34.5 is a billable code used to indicate a diagnosis of androgen insensitivity syndrome.
Androgen insensitivity syndrome (AIS) is a genetic condition that affects sexual development before birth and during puberty. Individuals with AIS are genetically male (XY chromosomes) but have a mutation in the androgen receptor gene, leading to an inability to respond to male hormones (androgens). As a result, they may develop female physical traits despite having male chromosomes. During puberty, individuals with complete AIS typically do not develop secondary male sexual characteristics, such as facial hair or a deep voice, and may present with a female phenotype, including breast development. The condition can lead to various complications, including infertility and an increased risk of certain cancers, such as gonadal tumors. Diagnosis is often made through clinical evaluation, genetic testing, and imaging studies to assess internal reproductive structures. Management may involve hormone replacement therapy and surgical interventions, depending on the individual's needs and desires.
Thorough documentation of hormonal evaluations and treatment plans.
Management of hormone replacement therapy and monitoring for complications.
Endocrinologists must document the rationale for treatment choices and any genetic counseling provided.
Detailed family history and genetic testing results.
Counseling patients and families about inheritance patterns and implications.
Geneticists should document the specific mutations identified and their clinical significance.
Used when genetic testing is performed to confirm AIS.
Documentation of the reason for testing and results.
Geneticists must ensure that the testing aligns with clinical findings.
AIS is primarily caused by mutations in the androgen receptor gene, which impairs the body's ability to respond to androgens, leading to a range of phenotypic presentations.
