Androgen insensitivity syndrome overview: Difference between revisions
| Line 16: | Line 16: | ||
==Causes== | ==Causes== | ||
Androgen insensitivity syndrome is caused due to mutations in the X-linked androgen receptor gene. AR gene defects inhibit the normal development of both internal and external genital structures in 46,XY individuals, causing a variety of phenotypes ranging from male infertility to completely normal female external genitalia. <ref name="pmid18694860">{{cite journal| author=Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A| title=Androgen insensitivity syndrome: clinical features and molecular defects. | journal=Hormones (Athens) | year= 2008 | volume= 7 | issue= 3 | pages= 217-29 | pmid=18694860 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=18694860 }} </ref> | |||
==Differentiating Androgen insensitivity syndrome from Other Diseases== | ==Differentiating Androgen insensitivity syndrome from Other Diseases== | ||
Revision as of 11:46, 13 July 2017
|
Androgen insensitivity syndrome Microchapters |
|
Differentiating Androgen insensitivity syndrome from other Diseases |
|---|
|
Diagnosis |
|
Treatment |
|
Case Studies |
|
Androgen insensitivity syndrome overview On the Web |
|
American Roentgen Ray Society Images of Androgen insensitivity syndrome overview |
|
Directions to Hospitals Treating Androgen insensitivity syndrome |
|
Risk calculators and risk factors for Androgen insensitivity syndrome overview |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief:
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
Case reports compatible with CAIS date back to the 19th century, when hermaphroditism was the technical term for intersex conditions.
Classification
Androgen insensitivity syndrome (AIS) represents a spectrum of defects in androgen action and can be subdivided into three broad phenotypes such as CAIS. PAIS and MAIS.
Pathophysiology
Androgen insensitivity syndrome results from mutations of the gene encoding the androgen receptor. AIS involves variable degree of undervirilization and/or infertility in XY persons of either sex.
Causes
Androgen insensitivity syndrome is caused due to mutations in the X-linked androgen receptor gene. AR gene defects inhibit the normal development of both internal and external genital structures in 46,XY individuals, causing a variety of phenotypes ranging from male infertility to completely normal female external genitalia. [2]
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.
- ↑ Galani A, Kitsiou-Tzeli S, Sofokleous C, Kanavakis E, Kalpini-Mavrou A (2008). "Androgen insensitivity syndrome: clinical features and molecular defects". Hormones (Athens). 7 (3): 217–29. PMID 18694860.