Androgen insensitivity syndrome surgery: Difference between revisions

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Latest revision as of 18:45, 11 October 2017

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.

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[pmid28351649-1] 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.

[pmid25170741-2] 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.

[pmid8351649-3] 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.

[pmid28386495-4] 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.

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@@ Line 1: / Line 1: @@
 __NOTOC__
 {{Androgen insensitivity syndrome}}
+{{CMG}}: {{AE}} {{ARK}}
-{{CMG}}
 ==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==
-===1. Complete Androgen Insensitivity Syndrome===
+===Complete Androgen Insensitivity Syndrome (CAIS)===
 '''Vaginal enlargement'''
-For women for whom vaginal shallowness is a problem, enlargement can be achieved by a prolonged course of self-dilation. Surgical construction of a vagina is sometimes performed for adults but carries its own potential problems.
+*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 decision'''
+'''Gonadectomy'''
-Optimal timing of removal of the testes has been the management issue most often debated by physicians, though whether it is necessary has been questioned as well. The advantage of retaining the (usually intra-abdominal) testes until after puberty is that pubertal changes will happen "naturally," without hormone replacement. This happens because the testosterone produced by the testes gets converted to oestrogen in the body tissues (a process known as aromatisation).
+*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.
-The primary argument for removal is that testes remaining in the abdomen throughout life may develop benign or malignant tumors and confer little benefit. The testicular cancer risk in CAIS appears to be higher than that which occurs with men whose testes have remained in the abdomen, and rare cases of testicular cancer occurring in adolescents with CAIS have been reported. Unfortunately the uncommonness of CAIS and the small numbers of women who have not had testes removed make cancer risk difficult to quantify. The best evidence suggests that women with CAIS and PAIS retaining their testes after puberty have a 25% chance of developing benign (harmless) tumors and a 4-9% chance of malignancy.
+*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]].
-There is also the issue of whether medical advances might enable tissue from testes in situ to be used with a donor egg to produce a child via IVF that is genetically related to the XY woman. This chance is lost for ever if the testes have been removed, unless they are preserved in some way. Apart from this, a significant number of CAIS women say that they never felt the same after gonadectomy as a young adult, that they lose their libido etc. Another benefit provided by testes in CAIS is the estradiol produced from testosterone. Although this can be provided pharmaceutically post-gonadectomy, many CAIS women have trouble adjusting to artificial HRT and regret losing their natural source of oestrogen.
+*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,
-===2. Incomplete or partial AIS===
+*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>
-Management issues for PAIS are virtually the same as for CAIS. Most women with PAIS do not seek genital reconstructive surgery for anatomic differences.
+===Incomplete or partial AIS===
-===3. Reifenstein syndrome===
+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.
-The first major management decision is the sex of assignment: will the baby be a boy or girl? Assignment depends partly on predicting likely pubertal development, potential response of the phallus to testosterone, and likely outcome of surgical reconstruction attempts. The Reifenstein form of AIS can present one of the most challenging sets of decisions imaginable as parents and physicians try to choose the "least bad" of several undesirable options.
-* Male assignment is usually followed by one or more operations in infancy by a pediatric urologist to completely repair the hypospadias, close the midline pouch, and (if possible) place the testes in the scrotum. Gonadal status and potential testosterone responsiveness is reassessed around age 12. Breast tissue can be removed surgically in adolescence if excessive. Gonads should be removed if scrotal placement is impossible. High dose testosterone replacement will sometimes achieve further virilization. An advantage of this choice commonly cited by parents is consistency with karyotype. A survey of adults brought up this way reported that nearly all were comfortable with the gender assignment made at birth and the sexual function of their genitalia, but many were dissatisfied with the size.
+===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 (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.
-* Female assignment is usually followed by gonadectomy in childhood to prevent further masculinization, especially at puberty; sometimes by surgery to enlarge the vaginal opening and reduce clitoral size. Estrogen is replaced at puberty. This course has the advantage that future tissue sensitivity to testosterone is irrelevant for a girl. This course may involve fewer surgical procedures than male assignment and surgery, and may produce a better cosmetic outcome, but a higher percentage of women raised with early surgical repair describe impairment of sexual sensation or function.
+'''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.
-* A third option has been advocated in the last decade by some: to tentatively assign male or female sex but postpone all surgery until early adolescence. This approach is intended to make it easier for an adolescent to reject or confirm the gender assigned in infancy by parents and doctors, and to choose or refuse reconstructive surgery. This approach might reduce the frequency of double surgery or unsatisfactory surgical outcomes, and would not jeopardize erectile tissue. Potential disadvantages of this course would be the psychosocial challenges to child and parents of the anatomic differentness, the potential adverse effect on adolescent social development of unresolved sexual identity issues combined with a 1" phallus and large breasts, and perhaps the unfairness of presenting a child in early adolescence with choices deferred as too difficult by parents and physicians 12 years earlier. The greatest appeal of this choice may be that we don't yet know the magnitude or frequency of the potential problems as well as we do for the more traditional choices.
+'''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.
-*More radical suggestions such as attempting to avoid assigning a sex at all, or teaching the child to identify __self as a third sex have not found much acceptance among those who are actually raising and caring for children, or among many intersex advocates.
+===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>
-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.
+==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>
+*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==
+*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==
 {{Reflist|2}}
-[[Category:Genetic disorders]]
-[[Category:Intersexuality]]
-[[Category:Syndromes]]
-[[Category:Genetic Disease]]
 [[Category:Endocrinology]]
-[[Category:Mature chapter]]
 {{WH}}
 {{WS}}