Androgen insensitivity syndrome overview: Difference between revisions
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==Overview== | ==Overview== | ||
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. <ref name="pmid26182482">{{cite journal| author=Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S et al.| title=Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood. | journal=Pediatr Endocrinol Rev | year= 2015 | volume= 12 | issue= 4 | pages= 373-87 | pmid=26182482 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26182482 }} </ref> | |||
==Historical Perspective== | ==Historical Perspective== | ||
Revision as of 00:29, 11 July 2017
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Overview
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. [1]
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Androgen insensitivity syndrome from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
References
- ↑ Chen MJ, Vu BM, Axelrad M, Dietrich JE, Gargollo P, Gunn S; et al. (2015). "Androgen Insensitivity Syndrome: Management Considerations from Infancy to Adulthood". Pediatr Endocrinol Rev. 12 (4): 373–87. PMID 26182482.