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__NOTOC__ | __NOTOC__ | ||
{{Androgen insensitivity syndrome}} | {{Androgen insensitivity syndrome}} | ||
{{CMG}}: {{AE}} | {{CMG}}: {{AE}} {{ARK}} | ||
==Overview== | ==Overview== | ||
Surgical approach to the | Surgical approach to the androgen insensitivity syndrome (AIS) involves vaginal dilation or gonadectomy or determination of sex which depend on various factors such as the type of AIS, age, sex and preventive measures to be taken in adolescence and adulthood. | ||
==Surgery== | ==Surgery== | ||
===Complete Androgen Insensitivity Syndrome=== | ===Complete Androgen Insensitivity Syndrome (CAIS)=== | ||
'''Vaginal enlargement''' | '''Vaginal enlargement''' | ||
* | *In women with shallow vagina, enlargement can be obtained by a prolonged course of self-dilation. Surgical construction of a vagina performed for adults may pose its own risks in certain individuals. | ||
'''Gonadectomy''' | '''Gonadectomy''' | ||
* | *The optimal time period for the removal of the [[testes]] has been debated by most physicians. By retaining the intra-abdominal [[testes]] until after [[puberty]], it would result in the naturally occurring pubertal changes without [[Hormone replacement therapy|hormone replacement]] which is due to the conversion of [[testosterone]] to [[estrogen]] in the body tissues by aromatisation. | ||
* | *Retaining the intra-abdominal [[testes]] all through the life may have a potential to develop into benign or [[malignant tumors]] and may prove beneficial only to a very little extent. In women with CAIS and PAIS retaining their [[testes]] after puberty it has been found that they have a 25% probability of developing benign (harmless) tumors and a 4-9% chance of [[malignancy]]. | ||
* | *In CAIS, the [[testes]] provide the benefit of producing [[estradiol]] from [[testosterone]]. Most CAIS women face difficulty in adjusting to the artificial hormone replacement therapy ([[HRT]]) and regret losing their natural source of [[estrogen]] though this can be provided through medicines after undergoing gonadectomy, | ||
* | *Recommendations state that gonads in CAIS can be retained until early adulthood. The small number of individuals with gonadectomy after age 20 years do not allow firm conclusion regarding later adulthood. Therefore, it is recommended that the option of gonadectomy be discussed in adulthood. Some form of regular surveillance of the [[gonads]] is then recommended, although none of the available options are ideal.<ref name="pmid28351649">{{cite journal| author=Chaudhry S, Tadokoro-Cuccaro R, Hannema SE, Acerini CL, Hughes IA| title=Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis. | journal=J Pediatr Urol | year= 2017 | volume= | issue= | pages= | pmid=28351649 | doi=10.1016/j.jpurol.2017.02.013 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28351649 }} </ref> | ||
===Incomplete or partial AIS=== | ===Incomplete or partial AIS=== | ||
Management | Management recommendations for PAIS are usually considered the same as for CAIS. Most women with PAIS do not seek genital reconstructive surgery for anatomic differences. | ||
===Reifenstein syndrome=== | ===Reifenstein syndrome=== | ||
*The | *The foremost management decision would be the assignment of sex, the decision to assign as a '''male''' or a '''female'''. Assigning the sex depends on assessing the pubertal development, response of the [[Phallus (embryology)|phallus]] to [[testosterone]], and the probable outcome of surgical reconstruction attempts. The Reifenstein form of AIS may be considered as one of the most challenging decision as it involves various factors concerning the psycho-social aspects of the individual. | ||
'''Male assignment''' | '''Male assignment''' | ||
* Male assignment | * Male assignment may involve by one or more surgical interventions in infancy to completely repair the [[hypospadias]], close the midline pouch, and depending on the possibility to place the [[testes]] in the [[scrotum]]. | ||
* | *At age 12, the gonadal status and potential [[testosterone]] responsiveness are reassessed. | ||
* | *In individuals with excessive breast tissue, it is removed surgically during [[adolescence]]. | ||
* | *In the event of no feasibility of placing the gonads in scrotum, they may be removed. | ||
* | *Further [[virilization]] may be achieved by high dose [[testosterone]] replacement. As a result of this, consistency with [[karyotype]] has been observed. Adults raised by following this were observed to be comfortable with the gender assignment made at birth and the sexual function of their genitalia, although many were dissatisfied with the size. | ||
'''Female assignment''' | '''Female assignment''' | ||
* | *In order to prevent further [[masculinization]], female assignment is usually followed by gonadectomy at puberty. Surgery may involve enlarging the vaginal opening and reducing clitoral size. | ||
*Estrogen is replaced at puberty. This | *[[Estrogen]] is replaced at puberty. This helps the individuals in having a better cosmetic outlook rather than undergoing surgery involving assignment of sex. Those involved in the surgical procedures have expressed dissatisfaction with sexual sensation and function. | ||
'''Other Options''' | '''Other Options''' | ||
* | *Other option involves temporarily assigning male or female sex and postponing surgerical interventions until early adolescence. | ||
*This approach helps an adolescent to accept or decline gender assigned during [[infancy]], and to make a decision to explore options of reconstructive surgery. | |||
*The disadvantages would be the [[psychosocial]] challenges of differences in the outlook and the gender identity issues. | |||
*Over the last 40-50 years, the second path, female assignment with reconstructive surgery in [[infancy]], has been the course most often chosen by parents and physicians, and the hazards of this course are most familiar. Since 1997, male assignment with early surgery is increasing in popularity, and even the third course of delaying surgery is sometimes followed. Advantages and disadvantages of this course will become apparent over the next two decades. | |||
*Over the last 40-50 years, the second path, female assignment with reconstructive surgery in infancy, has been the course most often chosen by parents and physicians, and the hazards of this course are most familiar. Since 1997, male assignment with early surgery is increasing in popularity, and even the third course of delaying surgery is sometimes followed. Advantages and disadvantages of this course will become apparent over the next two decades. | |||
===Post-operative followup=== | ===Post-operative followup=== | ||
* | *Difference in the sex hormone levels ratio change observed significantly after being treated with [[castration]] compared with preoperative levels. [[Testosterone]] and [[estrogen]] levels have been observed to decrease significantly, whereas [[luteinizing hormone]] and [[follicle-stimulating hormone]] have increased significantly. Whereas, [[prolactin]] levels have not been shown to change significantly.<ref name="pmid25170741">{{cite journal| author=Wang Z, Sa YL, Ye XX, Zhang J, Xu YM| title=Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes. | journal=J Obstet Gynaecol Res | year= 2014 | volume= 40 | issue= 9 | pages= 2044-50 | pmid=25170741 | doi=10.1111/jog.12455 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25170741 }} </ref> | ||
* | *In CAIS patients, the removal of the testes after puberty is considered to be safe and reliable. But, it has been observed that providing a hormone drug after being treated with [[castration]] is considered essential.<ref name="pmid25170741">{{cite journal| author=Wang Z, Sa YL, Ye XX, Zhang J, Xu YM| title=Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes. | journal=J Obstet Gynaecol Res | year= 2014 | volume= 40 | issue= 9 | pages= 2044-50 | pmid=25170741 | doi=10.1111/jog.12455 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25170741 }} </ref> | ||
==Indications== | ==Indications== | ||
* | *With the increase of age, the risk of gonadal tumor development in CAIS may also increase. <ref name="pmid8351649">{{cite journal| author=Forsyth CS, Frank AA| title=Evaluation of developmental toxicity of coniine to rats and rabbits. | journal=Teratology | year= 1993 | volume= 48 | issue= 1 | pages= 59-64 | pmid=8351649 | doi=10.1002/tera.1420480110 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8351649 }} </ref> | ||
* Bilateral testicles with Sertoli cell tumors. | *Incidence rates have been shown to be 0.8–22% in patients choosing to retain their gonads into adulthood. Gonadectomy has been recommended either during childhood or after puberty. <ref name="pmid8351649">{{cite journal| author=Forsyth CS, Frank AA| title=Evaluation of developmental toxicity of coniine to rats and rabbits. | journal=Teratology | year= 1993 | volume= 48 | issue= 1 | pages= 59-64 | pmid=8351649 | doi=10.1002/tera.1420480110 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8351649 }} </ref> | ||
*Bilateral testicles with [[Sertoli Cell Tumor|Sertoli cell tumors]]. Due to the potential risk of malignant transformation in the residual gonads, prophylactic gonadectomy following puberty has been recommended. <ref name="pmid28386495">{{cite journal| author=de Souza RF, Pereira da Silva J, Vieira Balla B, Neves Ferreira R, Chambô Filho A| title=Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome. | journal=Case Rep Obstet Gynecol | year= 2017 | volume= 2017 | issue= | pages= 8357235 | pmid=28386495 | doi=10.1155/2017/8357235 | pmc=5366775 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=28386495 }} </ref> | |||
==Contraindications== | ==Contraindications== | ||
Latest revision as of 18:45, 11 October 2017
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]: Associate Editor(s)-in-Chief: Aravind Reddy Kothagadi M.B.B.S[2]
Overview
Surgical approach to the androgen insensitivity syndrome (AIS) involves vaginal dilation or gonadectomy or determination of sex which depend on various factors such as the type of AIS, age, sex and preventive measures to be taken in adolescence and adulthood.
Surgery
Complete Androgen Insensitivity Syndrome (CAIS)
Vaginal enlargement
- In women with shallow vagina, enlargement can be obtained by a prolonged course of self-dilation. Surgical construction of a vagina performed for adults may pose its own risks in certain individuals.
Gonadectomy
- The optimal time period for the removal of the testes has been debated by most physicians. By retaining the intra-abdominal testes until after puberty, it would result in the naturally occurring pubertal changes without hormone replacement which is due to the conversion of testosterone to estrogen in the body tissues by aromatisation.
- Retaining the intra-abdominal testes all through the life may have a potential to develop into benign or malignant tumors and may prove beneficial only to a very little extent. In women with CAIS and PAIS retaining their testes after puberty it has been found that they have a 25% probability of developing benign (harmless) tumors and a 4-9% chance of malignancy.
- In CAIS, the testes provide the benefit of producing estradiol from testosterone. Most CAIS women face difficulty in adjusting to the artificial hormone replacement therapy (HRT) and regret losing their natural source of estrogen though this can be provided through medicines after undergoing gonadectomy,
- Recommendations state that gonads in CAIS can be retained until early adulthood. The small number of individuals with gonadectomy after age 20 years do not allow firm conclusion regarding later adulthood. Therefore, it is recommended that the option of gonadectomy be discussed in adulthood. Some form of regular surveillance of the gonads is then recommended, although none of the available options are ideal.[1]
Incomplete or partial AIS
Management recommendations for PAIS are usually considered the same as for CAIS. Most women with PAIS do not seek genital reconstructive surgery for anatomic differences.
Reifenstein syndrome
- The foremost management decision would be the assignment of sex, the decision to assign as a male or a female. Assigning the sex depends on assessing the pubertal development, response of the phallus to testosterone, and the probable outcome of surgical reconstruction attempts. The Reifenstein form of AIS may be considered as one of the most challenging decision as it involves various factors concerning the psycho-social aspects of the individual.
Male assignment
- Male assignment may involve by one or more surgical interventions in infancy to completely repair the hypospadias, close the midline pouch, and depending on the possibility to place the testes in the scrotum.
- At age 12, the gonadal status and potential testosterone responsiveness are reassessed.
- In individuals with excessive breast tissue, it is removed surgically during adolescence.
- In the event of no feasibility of placing the gonads in scrotum, they may be removed.
- Further virilization may be achieved by high dose testosterone replacement. As a result of this, consistency with karyotype has been observed. Adults raised by following this were observed to be comfortable with the gender assignment made at birth and the sexual function of their genitalia, although many were dissatisfied with the size.
Female assignment
- In order to prevent further masculinization, female assignment is usually followed by gonadectomy at puberty. Surgery may involve enlarging the vaginal opening and reducing clitoral size.
- Estrogen is replaced at puberty. This helps the individuals in having a better cosmetic outlook rather than undergoing surgery involving assignment of sex. Those involved in the surgical procedures have expressed dissatisfaction with sexual sensation and function.
Other Options
- Other option involves temporarily assigning male or female sex and postponing surgerical interventions until early adolescence.
- This approach helps an adolescent to accept or decline gender assigned during infancy, and to make a decision to explore options of reconstructive surgery.
- The disadvantages would be the psychosocial challenges of differences in the outlook and the gender identity issues.
- Over the last 40-50 years, the second path, female assignment with reconstructive surgery in infancy, has been the course most often chosen by parents and physicians, and the hazards of this course are most familiar. Since 1997, male assignment with early surgery is increasing in popularity, and even the third course of delaying surgery is sometimes followed. Advantages and disadvantages of this course will become apparent over the next two decades.
Post-operative followup
- Difference in the sex hormone levels ratio change observed significantly after being treated with castration compared with preoperative levels. Testosterone and estrogen levels have been observed to decrease significantly, whereas luteinizing hormone and follicle-stimulating hormone have increased significantly. Whereas, prolactin levels have not been shown to change significantly.[2]
- In CAIS patients, the removal of the testes after puberty is considered to be safe and reliable. But, it has been observed that providing a hormone drug after being treated with castration is considered essential.[2]
Indications
- With the increase of age, the risk of gonadal tumor development in CAIS may also increase. [3]
- Incidence rates have been shown to be 0.8–22% in patients choosing to retain their gonads into adulthood. Gonadectomy has been recommended either during childhood or after puberty. [3]
- Bilateral testicles with Sertoli cell tumors. Due to the potential risk of malignant transformation in the residual gonads, prophylactic gonadectomy following puberty has been recommended. [4]
Contraindications
- There are no specific contraindications advised as such from a surgical approach point of view. General factors such as a age for consideration of surgery and other co-morbid conditions have to be taken in to consideration before planning for a surgery.
References
- ↑ Chaudhry S, Tadokoro-Cuccaro R, Hannema SE, Acerini CL, Hughes IA (2017). "Frequency of gonadal tumours in complete androgen insensitivity syndrome (CAIS): A retrospective case-series analysis". J Pediatr Urol. doi:10.1016/j.jpurol.2017.02.013. PMID 28351649.
- ↑ 2.0 2.1 Wang Z, Sa YL, Ye XX, Zhang J, Xu YM (2014). "Complete androgen insensitivity syndrome in juveniles and adults with female phenotypes". J Obstet Gynaecol Res. 40 (9): 2044–50. doi:10.1111/jog.12455. PMID 25170741.
- ↑ 3.0 3.1 Forsyth CS, Frank AA (1993). "Evaluation of developmental toxicity of coniine to rats and rabbits". Teratology. 48 (1): 59–64. doi:10.1002/tera.1420480110. PMID 8351649.
- ↑ de Souza RF, Pereira da Silva J, Vieira Balla B, Neves Ferreira R, Chambô Filho A (2017). "Bilateral Sertoli Cell Tumors in a Patient with Androgen Insensitivity Syndrome". Case Rep Obstet Gynecol. 2017: 8357235. doi:10.1155/2017/8357235. PMC 5366775. PMID 28386495.