2025 ICD-10-CM code E34.5
Androgen insensitivity syndrome.
Medical necessity for procedures like gonadectomy or genitoplasty should be established based on individual clinical findings, potential risks (cancer development in undescended testes), and patient preferences in alignment with established guidelines.
Diagnosis involves physical examination, hormone level testing (testosterone, LH, FSH), genetic testing (karyotyping), and imaging studies (pelvic ultrasound). Management varies depending on the type of AIS and individual needs. It may include hormone replacement therapy (estrogen for CAIS, testosterone for PAIS in males), surgical interventions (gonadectomy, genitoplasty), and psychological support.
In simple words: Androgen insensitivity syndrome (AIS) is a genetic difference where a person with XY chromosomes (usually male) has a body that doesn't respond to male hormones normally.This means they may have some or all of the physical traits of a female, even though genetically they are male.AIS can range from complete, where the person looks completely female, to partial, where there might be a mix of male and female traits.
Androgen Insensitivity Syndrome (AIS) is a genetic condition where individuals with XY chromosomes (typically male) are resistant to androgens (male hormones). This resistance results in the development of female physical characteristics despite having a male genetic makeup. There are different degrees of androgen insensitivity, ranging from complete (CAIS) where external genitalia appear entirely female, to partial (PAIS) where genitalia may be ambiguous or partially masculinized. Mild AIS (MAIS) presents with typical male genitalia but often with infertility.
Example 1: A newborn with ambiguous genitalia undergoes genetic testing and is diagnosed with PAIS. The parents choose to raise the child as female, and surgery is performed to create a more typical female appearance. Estrogen replacement therapy is initiated at puberty., An adolescent female presents with primary amenorrhea. Examinations and tests reveal CAIS. Gonadectomy is recommended to mitigate cancer risk, and estrogen therapy is started., An adult male experiences infertility. Further investigation reveals MAIS. Genetic counseling is provided to explain the condition and its implications.
Documentation should include medical history, physical exam findings, hormone levels, genetic testing results, imaging reports, surgical records, and details of psychological support provided.
- Specialties:Endocrinology, Urology, Genetics, Gynecology, Psychology/Psychiatry
- Place of Service:Inpatient Hospital, Outpatient Hospital, Physician's Office