Zespół niewrażliwości na androgeny
Zapobieganie i profilaktyka
Zespół niewrażliwości na androgeny (ZNA) jest schorzeniem genetycznym spowodowanym mutacjami w genie receptora androgenowego (AR) na chromosomie X (Xq11-q12). Diagnostyka obejmuje badania kliniczne, hormonalne i molekularne, a w przypadku znanego wywiadu rodzinnego zalecane jest poradnictwo genetyczne oraz badania nosicielstwa u kobiet. Diagnostyka prenatalna możliwa jest poprzez biopsję kosmówki (CVS) między 11. a 14. tygodniem ciąży lub amniocentezę między 15. a 20. tygodniem ciąży, choć obie metody niosą ryzyko poronienia. U pacjentów z całkowitym ZNA (CAIS) jądra mogą być umiejscowione w kanale pachwinowym, podwargowo lub wewnątrzbrzusznie, co wiąże się z ryzykiem rozwoju nowotworów z komórek rozrodczych (GCT) wynoszącym do 15% po okresie dojrzewania. Profilaktyczna gonadektomia jest zalecana po zakończeniu dojrzewania, aby zmniejszyć ryzyko złośliwości, a następnie konieczna jest długoterminowa terapia zastępcza estrogenami do wieku menopauzalnego (około 50-52 lat).
Zapobieganie zespołowi niewrażliwości na androgeny
Zespół niewrażliwości na androgeny (ZNA) to genetyczne zaburzenie wynikające z mutacji w genie receptora androgenowego (AR) znajdującym się na chromosomie X (Xq11-q12). Jako że jest to schorzenie uwarunkowane genetycznie, nie istnieją obecnie metody jego profilaktyki pierwotnej. Jednakże dostępne są różne strategie mające na celu identyfikację nosicielek genu oraz zapobieganie powikłaniom związanym z tym schorzeniem123.
Poradnictwo genetyczne
Poradnictwo genetyczne odgrywa kluczową rolę w prewencji ZNA i jest zalecane w następujących przypadkach45:
- Osoby z wywiadem rodzinnym ZNA – poradnictwo genetyczne może pomóc rodzinom zrozumieć wzorzec dziedziczenia oraz prawdopodobieństwo wystąpienia schorzenia w przyszłych ciążach6
- Kobiety mogące być nosicielkami – identyfikacja kobiet będących nosicielkami wadliwego genu AR może pomóc w podejmowaniu świadomych decyzji dotyczących planowania rodziny7
Podczas poradnictwa genetycznego pacjentki otrzymują niedyrektywne wskazówki, zawierające informacje o stanie zdrowia i ryzyku urodzenia dziecka z ZNA, co umożliwia podjęcie świadomej decyzji dotyczącej posiadania dzieci8.
Badania genetyczne
Osoby mające w rodzinie przypadki ZNA powinny rozważyć wykonanie badań genetycznych, które mogą pomóc określić, czy są nosicielami nieprawidłowego genu910. Jeśli specyficzny gen powodujący ZNA został zidentyfikowany w rodzinie, możliwe jest przeprowadzenie badania krwi w celu ustalenia, czy dana osoba jest nosicielem i czy istnieje ryzyko przekazania go potomstwu11.
Diagnostyka prenatalna
W przypadkach znanego wywiadu rodzinnego ZNA, możliwe jest również przeprowadzenie badań u nienarodzonych dzieci. Dostępne są dwie główne metody diagnostyki prenatalnej1213:
- Biopsja kosmówki (CVS) – polega na pobraniu próbki komórek z łożyska, zazwyczaj za pomocą igły. CVS przeprowadza się zwykle między 11 a 14 tygodniem ciąży14
- Amniocenteza – zabieg polegający na pobraniu próbki płynu owodniowego otaczającego płód za pomocą igły. Amniocentezę wykonuje się zazwyczaj między 15 a 20 tygodniem ciąży15
Decyzja o poddaniu się tym badaniom, które wiążą się z ryzykiem poronienia, może być trudna. Przed jej podjęciem zaleca się konsultację z doradcą genetycznym16.
Profilaktyka powikłań zespołu niewrażliwości na androgeny
Profilaktyczna gonadektomia
U pacjentów z całkowitym zespołem niewrażliwości na androgeny (CAIS), jądra mogą być zlokalizowane w kanale pachwinowym, podwargowo lub wewnątrzbrzusznie. Po okresie dojrzewania pacjenci z jądrami wewnątrzbrzusznymi mają o 15% zwiększone ryzyko (zakres 0-22%) rozwoju nowotworów z komórek rozrodczych (GCT)17. Postępowanie w takich przypadkach obejmuje profilaktyczną gonadektomię z następczą terapią hormonalną (HRT) w celu utrzymania prawidłowego rozwoju w okresie dojrzewania i zapewnienia odpowiedniego zdrowia kości18.
Czas przeprowadzenia gonadektomii stał się kwestią kontrowersyjną, z niektórymi pacjentami i grupami wsparcia ZNA opowiadającymi się za zachowaniem jąder. Wśród powodów wymienia się czynniki psychologiczne, ryzyko związane z operacją, chęć potencjalnego zachowania płodności oraz niechęć do długotrwałej HRT. Niemniej jednak, zgłaszane ryzyko laparoskopowej gonadektomii jest bardzo niskie, z szacowanym ryzykiem zgonu wynoszącym 0,1 na 1000 zabiegów, a ryzykiem uszkodzenia jelit lub krwawienia wynoszącym 2,4%19.
Głównym celem przeprowadzenia gonadektomii u pacjentów z CAIS jest zmniejszenie ryzyka przyszłej złośliwości. Jak w przypadku innych form wnętrostwa, istnieje zwiększone ryzyko rozwoju GCT. W CAIS ryzyko rozwoju GCT przed okresem dojrzewania wśród tych pacjentów jest uważane za bardzo niskie, wynoszące od 0,8 do 2,0%. Po okresie dojrzewania ryzyko to wzrasta z wiekiem i szacuje się je na około 15% (zakres 0-22%)20.
Zaleca się, aby profilaktyczna gonadektomia odbywała się w okresie po dojrzewaniu, gdy feminizacja zostanie zakończona, częściowo dzięki estrogenowi jądrowemu, który częściowo pochodzi z konwersji androgenów do estrogenu. Opóźnienie gonadektomii do późniejszego okresu dojrzewania pozwala również świadczeniodawcom uzyskać świadomą zgodę bezpośrednio od pacjentów21.
Po gonadektomii pacjenci będą potrzebować długoterminowej terapii suplementacyjnej hormonalnej z zastępczym podawaniem estrogenów do wieku naturalnej menopauzy (około 50-52 lat), aby utrzymać prawidłowy rozwój piersi i kości, dobre samopoczucie psychospołeczne oraz funkcje seksualne22.
Dla pacjentów z CAIS, którzy decydują się na zachowanie jąder, stwierdzono, że ryzyko rozwoju nowotworów z komórek rozrodczych (GCT) wzrasta z wiekiem. Ważne jest utrzymanie ścisłej obserwacji poprzez aktywny nadzór z wykorzystaniem regularnych badań obrazowych (USG i/lub MRI) oraz markerów we krwi w celu monitorowania potencjalnego rozwoju GCT u tych pacjentów23.
Profilaktyka powikłań kostnych
W celu optymalizacji zdrowia kości zaleca się regularne ćwiczenia z obciążeniem oraz suplementację wapnia i witaminy D. Terapia bisfosfonianami może być wskazana dla osób z dowodami zmniejszonej gęstości mineralnej kości i/lub wielokrotnymi złamaniami24.
Edukacja i wsparcie psychologiczne
Edukacja rodzin z noworodkami z ZNA jest niezwykle ważna. Pomaga ona stworzyć plan opieki, który będzie korzystny dla noworodka w miarę jego dorastania. Najlepiej jest to robić poprzez podejście zespołowe, angażujące nie tylko lekarza czy pielęgniarkę, ale także specjalistę w zakresie zaburzeń genetycznych25.
Grupy wsparcia są również wartościowe, ponieważ pomagają zaspokoić unikalne potrzeby dziecka z ZNA i jego rodziny. Pielęgniarki odgrywają niezwykle ważną rolę w tym procesie. Pomagają edukować pacjentów i ich rodziny na temat ZNA. Zapewniają również rodzinie dostęp do grup wsparcia społeczności i materiałów edukacyjnych. Wszystko to pomaga rodzinie lepiej zrozumieć schorzenie i czuć się bardziej wspieraną w miarę jego przebiegu26.
Precyzyjna diagnoza wymaga badań klinicznych, hormonalnych i molekularnych i ma ogromne znaczenie dla odpowiedniego przypisania płci i ogólnego postępowania. Dzięki przeprowadzonej w odpowiednim czasie gonadektomii, waginoplastyce lub pogłębieniu kieszeni pochwowej, terapii zastępczej hormonami i odpowiedniemu wsparciu psychologicznemu osoba może prowadzić zdrowe i prawie normalne życie27.
Medycyna weterynaryjna i zespół niewrażliwości na androgeny
W medycynie weterynaryjnej, szczególnie w przypadku koni, Laboratorium Genetyki Weterynaryjnej (VGL) oferuje test na wszystkie pięć znanych wariantów, umożliwiając wykrycie klaczy noszących allele niewrażliwości na androgeny i dając właścicielom możliwość uniknięcia produkcji źrebiąt z AIS. Test ten pozwala również na potwierdzenie sterylności samców28.
Kolejne rozdziały
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Materiały źródłowe
- #1 Androgen Insensitivity Syndrome: Complete & Partialhttps://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome
Theres no way to prevent AIS. If you have a family history of the disease and worry about passing the abnormal gene to your child, genetic testing can help you find out if youre a carrier.
- #2 Androgen Insensitivity Syndrome: Causes and Treatmenthttps://www.medicoverhospitals.in/diseases/androgen-insensitivity-syndrome/
Currently, there is no way to prevent AIS because it is a genetic condition. However, genetic counseling can be helpful for families with a history of AIS. Genetic counselors can provide information about the risks of passing the condition to offspring and discuss potential reproductive options. […] Genetic counseling is recommended for: […] Families with a History of AIS: Genetic counselors can help families understand the inheritance pattern and the likelihood of recurrence in future pregnancies. […] Carrier Testing: Carrier testing can identify women who carry the defective AR gene, which can inform family planning decisions. […] There are no preventive measures due to its genetic nature, but early diagnosis can help in managing symptoms.
- #3https://www.ijrcog.org/index.php/ijrcog/article/view/10908
Androgen insensitivity syndrome (AIS) also called testicular feminizing syndrome is a rare X linked disorder of sexual differentiation caused by mutation in the androgen receptor (AR) gene, which is located on the X chromosome (Xq11-q12). […] Precise diagnosis requires clinical, hormonal and molecular investigation and is of great importance for appropriate gender assignment and management in general. With timely gonadectomy, vaginoplasty or vaginal pouch deepening, hormone replacement and appropriate psychological support help the person live a healthy and almost normal life.
- #4 Androgen Insensitivity Syndrome Treatment & Management: Medical Care, Surgical Care, Consultationshttps://emedicine.medscape.com/article/924996-treatment
Androgen insensitivity syndrome prevention revolves around the identification of women who may carry the gene. Provide appropriate nondirective counseling, including information about the condition and the woman’s risk of having an affected child, so that she can make an informed decision about whether to have children.
- #5 Androgen Insensitivity Syndrome: Causes and Treatmenthttps://www.medicoverhospitals.in/diseases/androgen-insensitivity-syndrome/
Currently, there is no way to prevent AIS because it is a genetic condition. However, genetic counseling can be helpful for families with a history of AIS. Genetic counselors can provide information about the risks of passing the condition to offspring and discuss potential reproductive options. […] Genetic counseling is recommended for: […] Families with a History of AIS: Genetic counselors can help families understand the inheritance pattern and the likelihood of recurrence in future pregnancies. […] Carrier Testing: Carrier testing can identify women who carry the defective AR gene, which can inform family planning decisions. […] There are no preventive measures due to its genetic nature, but early diagnosis can help in managing symptoms.
- #6 Androgen Insensitivity Syndrome: Causes and Treatmenthttps://www.medicoverhospitals.in/diseases/androgen-insensitivity-syndrome/
Currently, there is no way to prevent AIS because it is a genetic condition. However, genetic counseling can be helpful for families with a history of AIS. Genetic counselors can provide information about the risks of passing the condition to offspring and discuss potential reproductive options. […] Genetic counseling is recommended for: […] Families with a History of AIS: Genetic counselors can help families understand the inheritance pattern and the likelihood of recurrence in future pregnancies. […] Carrier Testing: Carrier testing can identify women who carry the defective AR gene, which can inform family planning decisions. […] There are no preventive measures due to its genetic nature, but early diagnosis can help in managing symptoms.
- #7 Androgen Insensitivity Syndrome Treatment & Management: Medical Care, Surgical Care, Consultationshttps://emedicine.medscape.com/article/924996-treatment
Androgen insensitivity syndrome prevention revolves around the identification of women who may carry the gene. Provide appropriate nondirective counseling, including information about the condition and the woman’s risk of having an affected child, so that she can make an informed decision about whether to have children.
- #8 Androgen Insensitivity Syndrome Treatment & Management: Medical Care, Surgical Care, Consultationshttps://emedicine.medscape.com/article/924996-treatment
Androgen insensitivity syndrome prevention revolves around the identification of women who may carry the gene. Provide appropriate nondirective counseling, including information about the condition and the woman’s risk of having an affected child, so that she can make an informed decision about whether to have children.
- #9 Androgen Insensitivity Syndrome: Complete & Partialhttps://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome
Theres no way to prevent AIS. If you have a family history of the disease and worry about passing the abnormal gene to your child, genetic testing can help you find out if youre a carrier.
- #10 What Is Androgen Insensitivity Syndrome? – Klarity Health Libraryhttps://my.klarity.health/what-is-androgen-insensitivity-syndrome/
If there is a family history of AIS and the specific gene causing it has been identified, it may be possible to undergo a blood test to determine if you carry the same gene and are at risk of passing it on to your children. […] In cases where there is a known family history of AIS, testing can also be conducted on unborn babies. There are two main tests available during pregnancy to determine whether a baby has AIS: Chorionic villus sampling (CVS): This involves removing a sample of cells from the placenta, typically using a needle. CVS is usually performed between weeks 11 and 14 of pregnancy […] Amniocentesis: This procedure involves extracting a sample of the amniotic fluid surrounding the baby using a needle. Amniocentesis is typically carried out between weeks 15 and 20 of pregnancy. […] Deciding whether or not to undergo these tests, which do carry a risk of miscarriage, can be challenging. It is advisable to consult with a genetic counsellor before making a decision.
- #11 What Is Androgen Insensitivity Syndrome? – Klarity Health Libraryhttps://my.klarity.health/what-is-androgen-insensitivity-syndrome/
If there is a family history of AIS and the specific gene causing it has been identified, it may be possible to undergo a blood test to determine if you carry the same gene and are at risk of passing it on to your children. […] In cases where there is a known family history of AIS, testing can also be conducted on unborn babies. There are two main tests available during pregnancy to determine whether a baby has AIS: Chorionic villus sampling (CVS): This involves removing a sample of cells from the placenta, typically using a needle. CVS is usually performed between weeks 11 and 14 of pregnancy […] Amniocentesis: This procedure involves extracting a sample of the amniotic fluid surrounding the baby using a needle. Amniocentesis is typically carried out between weeks 15 and 20 of pregnancy. […] Deciding whether or not to undergo these tests, which do carry a risk of miscarriage, can be challenging. It is advisable to consult with a genetic counsellor before making a decision.
- #12 HIE Multimedia – Partial androgen insensitivity syndromehttps://adamcertificationdemo.adam.com/content.aspx?productid=117&pid=1&gid=001169
Prenatal testing is available. People with a family history of PAIS should consider genetic counseling.
- #13 What Is Androgen Insensitivity Syndrome? – Klarity Health Libraryhttps://my.klarity.health/what-is-androgen-insensitivity-syndrome/
If there is a family history of AIS and the specific gene causing it has been identified, it may be possible to undergo a blood test to determine if you carry the same gene and are at risk of passing it on to your children. […] In cases where there is a known family history of AIS, testing can also be conducted on unborn babies. There are two main tests available during pregnancy to determine whether a baby has AIS: Chorionic villus sampling (CVS): This involves removing a sample of cells from the placenta, typically using a needle. CVS is usually performed between weeks 11 and 14 of pregnancy […] Amniocentesis: This procedure involves extracting a sample of the amniotic fluid surrounding the baby using a needle. Amniocentesis is typically carried out between weeks 15 and 20 of pregnancy. […] Deciding whether or not to undergo these tests, which do carry a risk of miscarriage, can be challenging. It is advisable to consult with a genetic counsellor before making a decision.
- #14 What Is Androgen Insensitivity Syndrome? – Klarity Health Libraryhttps://my.klarity.health/what-is-androgen-insensitivity-syndrome/
If there is a family history of AIS and the specific gene causing it has been identified, it may be possible to undergo a blood test to determine if you carry the same gene and are at risk of passing it on to your children. […] In cases where there is a known family history of AIS, testing can also be conducted on unborn babies. There are two main tests available during pregnancy to determine whether a baby has AIS: Chorionic villus sampling (CVS): This involves removing a sample of cells from the placenta, typically using a needle. CVS is usually performed between weeks 11 and 14 of pregnancy […] Amniocentesis: This procedure involves extracting a sample of the amniotic fluid surrounding the baby using a needle. Amniocentesis is typically carried out between weeks 15 and 20 of pregnancy. […] Deciding whether or not to undergo these tests, which do carry a risk of miscarriage, can be challenging. It is advisable to consult with a genetic counsellor before making a decision.
- #15 What Is Androgen Insensitivity Syndrome? – Klarity Health Libraryhttps://my.klarity.health/what-is-androgen-insensitivity-syndrome/
If there is a family history of AIS and the specific gene causing it has been identified, it may be possible to undergo a blood test to determine if you carry the same gene and are at risk of passing it on to your children. […] In cases where there is a known family history of AIS, testing can also be conducted on unborn babies. There are two main tests available during pregnancy to determine whether a baby has AIS: Chorionic villus sampling (CVS): This involves removing a sample of cells from the placenta, typically using a needle. CVS is usually performed between weeks 11 and 14 of pregnancy […] Amniocentesis: This procedure involves extracting a sample of the amniotic fluid surrounding the baby using a needle. Amniocentesis is typically carried out between weeks 15 and 20 of pregnancy. […] Deciding whether or not to undergo these tests, which do carry a risk of miscarriage, can be challenging. It is advisable to consult with a genetic counsellor before making a decision.
- #16 What Is Androgen Insensitivity Syndrome? – Klarity Health Libraryhttps://my.klarity.health/what-is-androgen-insensitivity-syndrome/
If there is a family history of AIS and the specific gene causing it has been identified, it may be possible to undergo a blood test to determine if you carry the same gene and are at risk of passing it on to your children. […] In cases where there is a known family history of AIS, testing can also be conducted on unborn babies. There are two main tests available during pregnancy to determine whether a baby has AIS: Chorionic villus sampling (CVS): This involves removing a sample of cells from the placenta, typically using a needle. CVS is usually performed between weeks 11 and 14 of pregnancy […] Amniocentesis: This procedure involves extracting a sample of the amniotic fluid surrounding the baby using a needle. Amniocentesis is typically carried out between weeks 15 and 20 of pregnancy. […] Deciding whether or not to undergo these tests, which do carry a risk of miscarriage, can be challenging. It is advisable to consult with a genetic counsellor before making a decision.
- #17 Prophylactic Laparoscopic Bilateral Gonadectomy for Complete Androgen Insensitivity Syndrome | Journal of Medical Insighthttps://jomi.com/article/313/prophylactic-laparoscopic-bilateral-gonadectomy-for-complete-androgen-insensitivity-syndrome
For patients with CAIS, their testes can be located within the inguinal canal, sublabially or intra-abdominally. Following puberty, patients with intra-abdominal testes are at a 15% increased risk (range 0-22%) of developing germ cell tumors (GCT). Management consists of prophylactic gonadectomy with subsequent hormone replacement therapy (HRT) to maintain normal pubertal development and promote adequate bone health. […] The timing of gonadectomy has become controversial with some patients and AIS support groups advocating for retaining their testes. A variety of reasons have been cited by these support groups for keeping the testes such as psychological factors, risks associated with the surgery, desire to potentially preserve fertility, and a reluctance to adhere to long-term HRT. Nevertheless, the reported risks for laparoscopic gonadectomy are very low, with an estimated risk of death of 0.1 per 1000 procedures, and the risk of injury to bowel or bleeding is reported at 2.4%.
- #18 Prophylactic Laparoscopic Bilateral Gonadectomy for Complete Androgen Insensitivity Syndrome | Journal of Medical Insighthttps://jomi.com/article/313/prophylactic-laparoscopic-bilateral-gonadectomy-for-complete-androgen-insensitivity-syndrome
For patients with CAIS, their testes can be located within the inguinal canal, sublabially or intra-abdominally. Following puberty, patients with intra-abdominal testes are at a 15% increased risk (range 0-22%) of developing germ cell tumors (GCT). Management consists of prophylactic gonadectomy with subsequent hormone replacement therapy (HRT) to maintain normal pubertal development and promote adequate bone health. […] The timing of gonadectomy has become controversial with some patients and AIS support groups advocating for retaining their testes. A variety of reasons have been cited by these support groups for keeping the testes such as psychological factors, risks associated with the surgery, desire to potentially preserve fertility, and a reluctance to adhere to long-term HRT. Nevertheless, the reported risks for laparoscopic gonadectomy are very low, with an estimated risk of death of 0.1 per 1000 procedures, and the risk of injury to bowel or bleeding is reported at 2.4%.
- #19 Prophylactic Laparoscopic Bilateral Gonadectomy for Complete Androgen Insensitivity Syndrome | Journal of Medical Insighthttps://jomi.com/article/313/prophylactic-laparoscopic-bilateral-gonadectomy-for-complete-androgen-insensitivity-syndrome
For patients with CAIS, their testes can be located within the inguinal canal, sublabially or intra-abdominally. Following puberty, patients with intra-abdominal testes are at a 15% increased risk (range 0-22%) of developing germ cell tumors (GCT). Management consists of prophylactic gonadectomy with subsequent hormone replacement therapy (HRT) to maintain normal pubertal development and promote adequate bone health. […] The timing of gonadectomy has become controversial with some patients and AIS support groups advocating for retaining their testes. A variety of reasons have been cited by these support groups for keeping the testes such as psychological factors, risks associated with the surgery, desire to potentially preserve fertility, and a reluctance to adhere to long-term HRT. Nevertheless, the reported risks for laparoscopic gonadectomy are very low, with an estimated risk of death of 0.1 per 1000 procedures, and the risk of injury to bowel or bleeding is reported at 2.4%.
- #20 Prophylactic Laparoscopic Bilateral Gonadectomy for Complete Androgen Insensitivity Syndrome | Journal of Medical Insighthttps://jomi.com/article/313/prophylactic-laparoscopic-bilateral-gonadectomy-for-complete-androgen-insensitivity-syndrome
For patients with CAIS, their testes can be located within the inguinal canal, sublabially or intra-abdominally. Following puberty, patients with intra-abdominal testes are at a 15% increased risk (range 0-22%) of developing germ cell tumors (GCT). Management consists of prophylactic gonadectomy with subsequent hormone replacement therapy (HRT) to maintain normal pubertal development and promote adequate bone health. […] The timing of gonadectomy has become controversial with some patients and AIS support groups advocating for retaining their testes. A variety of reasons have been cited by these support groups for keeping the testes such as psychological factors, risks associated with the surgery, desire to potentially preserve fertility, and a reluctance to adhere to long-term HRT. Nevertheless, the reported risks for laparoscopic gonadectomy are very low, with an estimated risk of death of 0.1 per 1000 procedures, and the risk of injury to bowel or bleeding is reported at 2.4%.
- #21 Prophylactic Laparoscopic Bilateral Gonadectomy for Complete Androgen Insensitivity Syndrome | Journal of Medical Insighthttps://jomi.com/article/313/prophylactic-laparoscopic-bilateral-gonadectomy-for-complete-androgen-insensitivity-syndrome
For patients with CAIS, their testes can be located within the inguinal canal, sublabially or intra-abdominally. Following puberty, patients with intra-abdominal testes are at a 15% increased risk (range 0-22%) of developing germ cell tumors (GCT). Management consists of prophylactic gonadectomy with subsequent hormone replacement therapy (HRT) to maintain normal pubertal development and promote adequate bone health. […] The timing of gonadectomy has become controversial with some patients and AIS support groups advocating for retaining their testes. A variety of reasons have been cited by these support groups for keeping the testes such as psychological factors, risks associated with the surgery, desire to potentially preserve fertility, and a reluctance to adhere to long-term HRT. Nevertheless, the reported risks for laparoscopic gonadectomy are very low, with an estimated risk of death of 0.1 per 1000 procedures, and the risk of injury to bowel or bleeding is reported at 2.4%.
- #22 Prophylactic Laparoscopic Bilateral Gonadectomy for Complete Androgen Insensitivity Syndrome | Journal of Medical Insighthttps://jomi.com/article/313/prophylactic-laparoscopic-bilateral-gonadectomy-for-complete-androgen-insensitivity-syndrome
For patients with CAIS, their testes can be located within the inguinal canal, sublabially or intra-abdominally. Following puberty, patients with intra-abdominal testes are at a 15% increased risk (range 0-22%) of developing germ cell tumors (GCT). Management consists of prophylactic gonadectomy with subsequent hormone replacement therapy (HRT) to maintain normal pubertal development and promote adequate bone health. […] The timing of gonadectomy has become controversial with some patients and AIS support groups advocating for retaining their testes. A variety of reasons have been cited by these support groups for keeping the testes such as psychological factors, risks associated with the surgery, desire to potentially preserve fertility, and a reluctance to adhere to long-term HRT. Nevertheless, the reported risks for laparoscopic gonadectomy are very low, with an estimated risk of death of 0.1 per 1000 procedures, and the risk of injury to bowel or bleeding is reported at 2.4%.
- #23 Prophylactic Laparoscopic Bilateral Gonadectomy for Complete Androgen Insensitivity Syndrome | Journal of Medical Insighthttps://jomi.com/article/313/prophylactic-laparoscopic-bilateral-gonadectomy-for-complete-androgen-insensitivity-syndrome
For patients with CAIS, their testes can be located within the inguinal canal, sublabially or intra-abdominally. Following puberty, patients with intra-abdominal testes are at a 15% increased risk (range 0-22%) of developing germ cell tumors (GCT). Management consists of prophylactic gonadectomy with subsequent hormone replacement therapy (HRT) to maintain normal pubertal development and promote adequate bone health. […] The timing of gonadectomy has become controversial with some patients and AIS support groups advocating for retaining their testes. A variety of reasons have been cited by these support groups for keeping the testes such as psychological factors, risks associated with the surgery, desire to potentially preserve fertility, and a reluctance to adhere to long-term HRT. Nevertheless, the reported risks for laparoscopic gonadectomy are very low, with an estimated risk of death of 0.1 per 1000 procedures, and the risk of injury to bowel or bleeding is reported at 2.4%.
- #24https://step1.medbullets.com/evidence/20301602
Management: Treatment of manifestations: To prevent testicular malignancy, treatment of CAIS may include either removal of the testes after puberty when feminization is complete or prepubertal gonadectomy accompanied by estrogen replacement therapy. […] Because the risk of malignancy is low, however, removal of gonads is increasingly controversial. Prevention of secondary manifestations: Regular weight-bearing exercises and supplemental calcium and vitamin D are recommended to optimize bone health; bisphosphonate therapy may be indicated for those with evidence of decreased bone mineral density and/or multiple fractures.
- #25 Androgen Insensitivity Syndrome – MD Searchlighthttps://mdsearchlight.com/sexual-health/androgen-insensitivity-syndrome/
Teaching families with newborns who have Androgen Insensitivity Syndrome (AIS), a condition where the body cant process male hormones, is extremely important. This education helps create a care plan that will benefit the newborn as they grow up. This is best done through a team approach, involving not just the usual doctor or nurse, but also a specialist in genetic disorders. Support groups are also valuable, because they help address the unique needs of the child with AIS and their family. […] Nurses play an incredibly important role in this process. They help to educate the patients and their families about AIS. They also ensure that the family has access to community support groups and educational materials. This all helps the family to understand the condition better and feel more supported as they navigate it.
- #26 Androgen Insensitivity Syndrome – MD Searchlighthttps://mdsearchlight.com/sexual-health/androgen-insensitivity-syndrome/
Teaching families with newborns who have Androgen Insensitivity Syndrome (AIS), a condition where the body cant process male hormones, is extremely important. This education helps create a care plan that will benefit the newborn as they grow up. This is best done through a team approach, involving not just the usual doctor or nurse, but also a specialist in genetic disorders. Support groups are also valuable, because they help address the unique needs of the child with AIS and their family. […] Nurses play an incredibly important role in this process. They help to educate the patients and their families about AIS. They also ensure that the family has access to community support groups and educational materials. This all helps the family to understand the condition better and feel more supported as they navigate it.
- #27https://www.ijrcog.org/index.php/ijrcog/article/view/10908
Androgen insensitivity syndrome (AIS) also called testicular feminizing syndrome is a rare X linked disorder of sexual differentiation caused by mutation in the androgen receptor (AR) gene, which is located on the X chromosome (Xq11-q12). […] Precise diagnosis requires clinical, hormonal and molecular investigation and is of great importance for appropriate gender assignment and management in general. With timely gonadectomy, vaginoplasty or vaginal pouch deepening, hormone replacement and appropriate psychological support help the person live a healthy and almost normal life.
- #28 Androgen Insensitivity Syndrome (AIS) | Veterinary Genetics Laboratoryhttps://vgl.ucdavis.edu/test/ais-horse
The VGL offers a test for all five known variants, allowing for the detection of mares carrying the androgen insensitivity alleles and providing owners the opportunity to avoid producing AIS foals. […] This test also allows for confirmation of sterile males.