title: Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood.
abstract: Androgen insensitivity syndrome (AIS) is an undervirilization syndrome in individuals with 46, XY karyotype. The undervirilization can be complete feminization or incomplete virilization with grades of ambiguity. AIS is caused by mutations in the androgen receptor, resulting in resistance to the physiologic activities of androgens. Differing degrees of resistance lead to three phenotypes: a complete form with female-appearing external genitalia, a partial form with a wide range of virilization, and a mild form with only minor undervirilization. AIS presents different challenges depending on whether resistance is complete or partial. Challenges include sex assignment, which impacts other medical decisions such as gonadectomy, hormonal replacement, and other surgical interventions. This review describes medical, psychosocial, and ethical concerns for each stage of development in complete and partial AIS, from the neonatal period to adulthood. These aspects of care should be addressed within an ethical framework by a multidisciplinary team, with the patients and families being the stakeholders in the decision-making process. We use the GRADE system when appropriate to appraise the existing evidence and provide recommendations and guidelines for management of AIS and appropriate transition of patients from pediatric to adult care.
authors.forename: Min-Jye
authors.initials: MJ
authors.lastname: Chen
authors.forename: Bach-Mai K
authors.initials: BM
authors.lastname: Vu
authors.forename: Marni
authors.initials: M
authors.lastname: Axelrad
authors.forename: Jennifer E
authors.initials: JE
authors.lastname: Dietrich
authors.forename: Patricio
authors.initials: P
authors.lastname: Gargollo
authors.forename: Sheila
authors.initials: S
authors.lastname: Gunn
authors.forename: Charles G
authors.initials: CG
authors.lastname: Macias
authors.forename: Laurence B
authors.initials: LB
authors.lastname: McCullough
authors.forename: David R
authors.initials: DR
authors.lastname: Roth
authors.forename: V Reid
authors.initials: VR
authors.lastname: Sutton
authors.forename: Lefkothea P
authors.initials: LP
authors.lastname: Karaviti
mesh_terms: D000293:Adolescent; D000328:Adult; D013734:Androgen-Insensitivity Syndrome / Q000503:physiopathology / Q000523:psychology / Q000628:therapy*; D000728:Androgens / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D030881:Disclosure; D012734:Disorders of Sex Development; D004967:Estrogens / Q000627:therapeutic use; D005260:Female; D005835:Genitalia; D006066:Gonads / Q000601:surgery; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007258:Informed Consent; D008297:Male; D009369:Neoplasms / Q000209:etiology; D010641:Phenotype; D011627:Puberty; D012307:Risk Factors; D057829:Gender-Affirming Procedures; D013997:Time Factors
chemical_list: D000728:Androgens; D004967:Estrogens