Materiały źródłowe

• #1 Androgen Insensitivity Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/924996-treatment

  Medical care for a patient with androgen insensitivity syndrome (AIS) has two aspects: hormone replacement therapy (HRT) and psychological support. […] HRT is the first and less complex aspect. All patients with complete androgen insensitivity syndrome (CAIS) and most patients with all but the mildest forms of partial androgen insensitivity syndrome (PAIS) undergo gonadectomy at some point in their treatment. Adolescent and adult patients with androgen insensitivity syndrome require hormone replacement. […] For patients with complete androgen insensitivity syndrome, hormone therapy almost always consists of estrogen replacement. The general belief is that these women do not require progesterone because they have no uterus. Some evidence suggests that progesterone therapy combined with estrogen replacement may lessen the long-term risk of breast cancer, although this type of therapy is debatable.

• #2 Androgen Insensitivity Syndrome Medication: Estrogens

  https://emedicine.medscape.com/article/924996-medication

  Hormone replacement therapy (HRT) with estrogens has been the standard of practice for postorchidectomy patients with androgen insensitivity syndrome (AIS). Although most physicians prescribe estrogen alone, some physicians have begun adding progesterone to the regimen, based upon a relatively small amount of data that suggests progesterone may lower the risk of breast cancer, have a role in the ductal development of the breast, or have some role in bone mineral accretion. (These potential benefits are hypothetical.) […] Administration of androgens in more masculinized patients with partial androgen insensitivity syndrome (PAIS) has been suggested but remains highly controversial. Because some patients now are assigned male gender and are identifying as males in adulthood, this treatment probably will be described more extensively soon. No data currently describe dosage, administration, benefits, or adverse effects of androgen administration to patients with androgen insensitivity syndrome. Dosage and response likely depends on the severity of the receptor defect. Dihydrotestosterone (DHT) or androgen analogues that cannot be aromatized to estrogen appear to be the treatments of choice. […] These agents are used as hormone replacement for women with androgen insensitivity syndrome who are postgonadectomy to support development and maintenance of secondary sexual characteristics and to prevent osteoporosis.

• #3

  https://www.nhs.uk/conditions/androgen-insensitivity-syndrome/treatment/

  If, for any reason, a child’s testicles are removed before puberty, hormone treatment will be needed to keep them healthy and help them develop a more female body shape. […] Girls with PAIS who have their testicles removed may need oestrogen to encourage puberty. […] Hormone therapy will also be continued after puberty to stop people developing menopausal symptoms and weak bones (osteoporosis). […] Boys with PAIS may be offered androgens (testosterone) to encourage certain male characteristics, such as facial hair and penis growth.

• #3

  https://www.nhs.uk/conditions/androgen-insensitivity-syndrome/treatment/

  Children with androgen insensitivity syndrome (AIS) and their parents will be supported by a team of specialists who can offer ongoing information and care. […] Some people with AIS may want to discuss surgery and hormone therapy with their specialist team. […] However, psychological support and advice is probably the most important part of care. This can help you understand your or your child’s body and deal with any issues that arise as a result of AIS. […] Children with PAIS will sometimes be offered surgery to help change their body and maintain their health. […] People with CAIS will not be offered surgery until adolescence or adulthood. […] Adults with CAIS will usually have their internal testicles removed. This is because there’s a very small risk they could become cancerous if left in place throughout adulthood.

• #4 Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)

  https://www.mdpi.com/1660-4601/16/7/1268

  Complete androgen insensitivity syndrome (CAIS) management still represents a unique challenge throughout childhood and adolescence, particularly regarding timing of gonadectomy, type of hormonal therapy, and psychological concerns. […] HRT is mandatory after bilateral gonadectomy in order to prevent symptoms of hypoestrogenism, inducing pubertal development if surgery has been performed before pubertal age or maintaining secondary sexual features if it has been performed later. […] The classic HRT for CAIS patients is based on oestrogen therapy, but current data are not able to indicate the best daily dosage. […] Therefore, HRT should be started at the lowest dose (i.e., oral ethinyl oestradiol 2.5–5 µg/day or 50–100 ng/kg/day) and then gradually increased to the adult dosage (i.e., oral ethinyl oestradiol 20–25 µg/day) in order to simulate physiological secretion.

• #4 Different Clinical Presentations and Management in Complete Androgen Insensitivity Syndrome (CAIS)

  https://www.mdpi.com/1660-4601/16/7/1268

  After complete breast development, therapy should be continued with a regular daily dose. […] Despite the correct administration of classic HRT, many patients with CAIS reported a decrease in psychological well-being and in sexual satisfaction, perhaps due to several hormonal changes after the bilateral gonadectomy. […] Authors concluded that testosterone should be considered a valid alternative to oestrogen HRT in CAIS. […] In summary, CAIS is a condition associated with an increased risk of cancer, although cancer results less frequently in CAIS compared to other DSD. The majority of tumoral lesions detected are non-invasive ones, with a low rate of progression into aggressive forms. Multiple factors seem to be involved, including individual genetic susceptibility, residual paracrine androgen effect, and testes position, and there are not any reliable serum markers to identify early lesions, though there are many suitable candidates. Nevertheless, histological, epidemiological, and prognostic features of testicular cancer in CAIS allow the postponing of gonadectomy until after pubertal age.

• #5 Androgen insensitivity syndrome medical therapy – wikidoc

  https://www.wikidoc.org/index.php/Androgen_insensitivity_syndrome_medical_therapy

  In order to avoid dyspareunia, vaginal dilatation may be recommended as an additional treatment for CAIS. […] Timing of gonadectomy, appropriate hormone replacement therapy and assessment of the need for vaginal dilation or rarely, vaginal surgery are the issues involved in the management of CAIS. […] Expert psychological counseling is mandatory to manage the disconnect between chromosomal, gonadal and phenotypic sex and to choreograph the evolving process of disclosure from late childhood through to maturity. […] Starting dose of 2 g daily from roughly 11 years of age. This dose is increased in increments of 2 – 4 g over about 2 years to reach a daily dose of 30 g. Thereafter, and in women who have a gonadectomy after puberty, several preparations are available, including the natural estrogen estradiol, which can be given orally or transdermally.

• #5 Androgen insensitivity syndrome medical therapy – wikidoc

  https://www.wikidoc.org/index.php/Androgen_insensitivity_syndrome_medical_therapy

  Treatment of PAIS is similar to treatment of CAIS in individuals with predominantly female genitalia, but in order to help avoid increasing clitoromegaly at the time of puberty. The pre-pubertal gonadectomy procedure is advised. […] Individuals with PAIS and raised as females and who undergo gonadectomy after puberty may need combined estrogen and androgen replacement therapy. […] A trial of androgen pharmacotherapy may help improve virilization in infancy. […] Psychosocial support plays a major role in a multidisciplinary approach in managing complete androgen insensitivity syndrome. […] Supplemental calcium and vitamin D along with regular weight-bearing exercises and are advised to optimize bone health. […] Bisphosphonate therapy may be beneficial for individuals with decreased bone mineral density and a history of multiple fractures.

• #6 Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic in: Endocrine Connections Volume 6 Issue 6 (2017)

  https://ec.bioscientifica.com/view/journals/ec/6/6/375.xml

  To review the treatment choices of women with complete androgen insensitivity syndrome (CAIS) at a single tertiary centre. […] The most common form of HRT was oral oestrogen or transdermal oestrogen in 80% (113/141). […] In a clinic offering individualised multidisciplinary care for women with CAIS, we found that the majority of women chose oestrogen-based treatment while a significant minority used testosterone. […] Hormone replacement therapy (HRT) is required after gonadectomy in order to maintain secondary sexual characteristics, bone and cardiovascular health and to promote general wellbeing and sexual function. […] The most common form of HRT was some form of oestrogen in 113/141 (80%) of the total group or 96% or those requiring HRT. […] Testosterone was used in 14/141 (10%) of the total group or 12% of women requiring HRT with 8 women choosing to combine both oestrogen and testosterone treatments and 6 using testosterone alone.

• #7 Hormone replacement treatment choices in complete androgen insensitivity syndrome: an audit of an adult clinic in: Endocrine Connections Volume 6 Issue 6 (2017)

  https://ec.bioscientifica.com/view/journals/ec/6/6/375.xml

  Overall, therefore 24 (17%) women had used testosterone therapy at some time. […] For many women with CAIS, routine oestrogen replacement as for any other form of hypogonadism is appropriate. […] While the majority of women with CAIS choose oestrogen-based treatment after gonadectomy, a significant minority prefer testosterone and our experience is that this is a satisfactory option.

• #8

  https://www.healio.com/news/endocrinology/20180803/testosterone-provides-safe-estrogen-alternative-for-women-with-complete-androgen-insensitivity-syndr

  Women with complete androgen insensitivity syndrome randomly assigned to receive daily testosterone therapy for 6 months experienced a marked increase in sexual desire vs. women assigned daily estradiol therapy, with no between-group differences in measures of mental health-related quality of life and psychological wellbeing, according to study findings published in Lancet Diabetes Endocrinology. […] Taking into account that testosterone was well tolerated and just as safe as estrogen treatment, we conclude that testosterone can be an alternative hormone substitution for patients with CAIS, especially when sexual satisfaction is reduced, the researchers wrote. Complementary treatment with estrogens (in case of low aromatization) for potential beneficial effects on bone metabolism should be discussed. Long-term follow-up will be crucial to assess effects on physical and psychological wellbeing.

• #9 Testosterone replacement in androgen insensitivity: is there an advantage?

  https://atm.amegroups.org/article/view/22215/html

  Androgen insensitivity syndrome (AIS) is the most common etiology of 46,XY disorders of sex development (DSD). In CAIS, bilateral gonadectomy is necessary either due to inguinal hernia at childhood or to avoid germ cell tumor development. The consequence of bilateral gonadectomy is the need of oestrogen replacement as expected for matched-age women. However, despite an adequate hormonal replacement with estrogens, some CAIS women complained about reduced psychological wellbeing and sexual satisfaction after bilateral gonadectomy. […] Birnbaum et al. designed a clinical trial to answer the question: is testosterone able to improve wellbeing and sexual functioning in patients with CAIS? The effectiveness and safety of testosterone replacement on wellbeing and sexuality in patients with CAIS were evaluated in a national, multicenter, double blind, randomized crossover trial conduced in Germany at three university centers and three specialized treatment institutions. The authors concluded that testosterone was well tolerated and safety as estradiol and it could be an alternative hormone-replacement therapy for patients with CAIS, especially when sexual desire is reduced. […] Although testosterone could be an alternative hormone therapy for patients with CAIS, long term follow-up, assessment of impact on other psychological issues and on bone metabolism and cardiovascular protection are necessary to consider testosterone replacement in CAIS in clinical practice.

• #10 Androgen Insensitivity Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/924996-treatment

  For individuals with partial androgen insensitivity syndrome, traditional therapy has mirrored therapy for individuals with complete androgen insensitivity syndrome. Patients with partial androgen insensitivity syndrome who have a male gender identity, however, may be treated with testosterone and/or dihydrotestosterone (DHT). […] Psychological support is probably the most important aspect of medical care from the patient’s point of view. […] The primary care practitioner can coordinate medical care for a child with androgen insensitivity syndrome, or coordination may be performed by a pediatric endocrinologist, especially as part of a multidisciplinary team. […] For individuals with androgen insensitivity syndrome, the standard of care is an orchidectomy to prevent possible malignant degeneration of the testes.

• #11

  https://www.archivesofmedicalscience.com/The-challenges-of-androgen-insensitivity-syndrome,125584,0,2.html

  High dose androgen treatment could restore these patients fertility. […] For the PAIS patients assigned and raised as females, the therapeutic protocol implies bilateral orchiectomy during childhood, to prevent the effects of further virilisation and to reduce the risk of testicular cancer, in patients with undescended testes. […] The treatment in CAIS patients implies bilateral orchiectomy to prevent malignant degeneration of the testes and hormonal therapy to maintain the normal female phenotype, despite the 46XY karyotype. […] The timing of gonadectomy has been debated by many authors, but current guidelines recommend postponing it until after puberty, to achieve complete natural feminization and due to the fact that the risk of testicular tumours in CAIS patients is low before adulthood.

• #11

  https://www.archivesofmedicalscience.com/The-challenges-of-androgen-insensitivity-syndrome,125584,0,2.html

  Establishing the correct sex assignment may be very difficult in PAIS patients, because they present ambiguous genitalia. […] The management of AIS requires a multidisciplinary team of paediatricians, endocrinologists, gynaecologists, urologists, plastic surgeons and psychiatrists. Psychological counselling should be recommended for these patients and their parents.

• #12 SciELO Brazil – Androgen insensitivity syndrome: a review Androgen insensitivity syndrome: a review

  https://www.scielo.br/j/aem/a/98DLW9RbrG7knCMNdRcGdtM/

  For individuals raised as females, bilateral gonadectomy is recommended in childhood to avoid virilization and to eliminate the risk of testicular tumors. […] For MAIS, there is little information about clinical outcomes. […] Hormonal replacement is mandatory for all gonadectomized individuals. […] In male individuals, the testes are able to produce testosterone. […] The strategy to obtain fertility in AIS individuals has not been defined yet. […] In PAIS individuals, some residual androgen receptor function is preserved, but not usually enough to promote fertility. […] A successful fertility was recently described in a PAIS individual harboring the p.V686A AR variant, after prolonged high-dose testosterone therapy.

• #13 Androgen insensitivity syndrome Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/androgen-insensitivity-syndrome

  Possible treatments for PAIS include: Surgery may be done to reduce breasts, repair undescended testicles, or reshape the penis to provide a more male appearance. They may also receive androgens to help facial hair grow and deepen the voice. Surgery may be done to remove the testicles and reshape the genitals to provide a more female appearance. The female hormone estrogen is then given during puberty. […] Treatment and gender assignment can be a very complex issue and must be targeted to each individual person. Treatment guidelines are still evolving. […] It is vital that children with AIS and their parents receive care and support from a health care team that includes different specialists with expertise in gender medicine. This should include mental health professionals to help provide support for both children and their parents.

• #13 Androgen insensitivity syndrome Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/androgen-insensitivity-syndrome

  In children with CAIS, testicles that are in the wrong place may not be removed until a child finishes growing and goes through puberty. At this time, the testes may be removed because they can develop cancer, just like any undescended testicle. Estrogen replacement may be prescribed after puberty. Females with CAIS have a shortened vagina. They may choose to use vaginal dilation to lengthen it. […] Infants with PAIS may be assigned a gender depending on the extent of genital ambiguity. However, gender assignment is a complex issue, and the need for it and the timing of it must be considered carefully. PAIS can be distressing for parents and families. While early surgery may make the parents feel more comfortable, the child may not be happy with the decision as they become older. Many health experts and intersex advocates suggest waiting until the child is old enough to be involved in the decision, unless surgery is needed for the health of the infant.

• #14 Partial Androgen Insensitivity Syndrome – ISS

  https://www.iss.it/en/-/androgen-insensitivity-syndrome-ais-

  And to simulate female pubertal development, hormonal therapy with estrogens will also be undertaken, followed by replacement therapy in adulthood. […] Some people may want surgery aimed at feminizing the genitals, and to ensure adequate sexual and urinary function. […] Individuals with PAIS and male gender identity who have not had orchiectomy may require medical or surgical treatment of gynecomastia at puberty. […] In some cases, a short treatment (six months) with high-dose testosterone or with dihydrotestosterone (DHT) gel is undertaken to optimize virilization, especially regarding penile development. […] Long-term testosterone replacement therapy is generally not necessary. […] On the other hand, anecdotal cases of persons with PAIS treated with high doses of testosterone showed improved spermatogenesis, and were able to induce pregnancy by medically assisted procreation (MAP) methods.

• #14 Partial Androgen Insensitivity Syndrome – ISS

  https://www.iss.it/en/-/androgen-insensitivity-syndrome-ais-

  The final height the person reaches in adulthood is generally intermediate between typically female and typically male. […] Most studies report a 50% female and a 50% male gender assignment, with a tendency towards agreement between gender assigned at birth and gender identity/expression. […] Therefore, the literature recommends a case-by-case assessment to establish the gender to be assigned at birth. […] Accordingly, the most recent international recommendations support the need to postpone partially reversible or irreversible, non-urgent medical-surgical interventions for the physical health of the minor to a moment in which the person can express their informed consent. […] All this considered, if at puberty the person identifies as female and desires to affirm the female gender, orchiectomy (removal of testicles, unless already removed in infancy) can be contemplated to prevent virilization and the onset of testicular tumours.

• #15 Prophylactic Laparoscopic Bilateral Gonadectomy for Complete Androgen Insensitivity Syndrome | Journal of Medical Insight

  https://jomi.com/article/313/prophylactic-laparoscopic-bilateral-gonadectomy-for-complete-androgen-insensitivity-syndrome

  The primary goal of performing gonadectomy in the setting of CAIS is to lessen the risk of future malignancy. As in other forms of cryptorchidism, there is an increased risk of developing GCT. In CAIS, the risk of developing prepubertal GCT among these patients is considered to be very low ranging from 0.8-2.0%. Following puberty, this risk increases with age and is estimated to be roughly 15% (ranges from 0-22%). […] Following gonadectomy, these patients will need long-term hormonal supplement therapy with estrogen replacement until the age of natural menopause (around 50-52 years of age) to maintain normal breast and bone development, psychosocial well-being, and sexual function.

• #15 Prophylactic Laparoscopic Bilateral Gonadectomy for Complete Androgen Insensitivity Syndrome | Journal of Medical Insight

  https://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. […] Currently, there is no therapy available to reverse the underlying genetic mutation of the AR in patients with CAIS. Therefore, treatment is focused on prophylactic gonadectomy to prevent potential gonadal malignancy with subsequent HRT, treatment of the urogenital tract, if indicated, as well as psychological support. Gonadectomy is usually delayed until sexual maturation is complete during adolescence to allow for normal spontaneous pubertal development.

• #16 Androgen Insensitivity Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK542206/

  Management of androgen insensitivity syndrome involves a holistic approach toward the psychological, physiological, and social well-being of the individual suffering from this disorder. It is imperative to address the challenges foreseen to the family of the infant who is born with AIS to optimize well being of the infant into adulthood. Given the irreversibility of the development during embryogenesis in AIS, management involves counseling families, appropriate gender assignment, and improving functional status with time and timing of gonadectomy to prevent tumorigenesis. […] […] CAIS presents as an incidental finding of gonad at the time of inguinal hernia repair or as primary amenorrhea in females. It is advisable to obtain a biopsy of the gonad at the time of hernia repair and replace it back either subcutaneously or within the abdomen while further discussion with the parents about the diagnosis and plans for future management are pending. Parents can choose early gonadectomy to prevent tumorigenesis when complete androgen insensitivity presents in infancy, and the child is unaware of the issues around the diagnosis of CAIS. In this scenario, puberty induction can be done later via estrogen replacement. Also, since women with CAIS do not have a uterus, the risk of estrogen-induced cancer is absent. Alternatively, gonadectomy can be delayed until early adulthood, in which scenario there is a low risk of gonadal tumor in childhood. However, there is no necessity for puberty induction via external estrogen replacement. Puberty occurs spontaneously, manifesting as standard breast development and an appropriately timed growth spurt; however, it is not followed by menarche. Surgical management in CAIS includes vaginal dilation and rarely vaginoplasty for normal sexual functioning and well-being. […]

• #17 Androgen Insensitivity Syndrome | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/17524

  Unlike CAIS, infants with PAIS are usually born with ambiguous genitalia, which presents the necessity for an accurate diagnosis primarily and a decision on sex assignment after a holistic discussion with family and caregivers. After that, the clinician can address early management issues. In infants assigned as males, medical management includes androgen supplementation at the time of puberty. Surgical management includes the correction of hypospadias and undescended testes. These procedures are preferable during the 2nd to 3rd year of life. At the time of puberty, gynecomastia may develop, which should be corrected with reduction mammoplasty to prevent tumorigenesis. However, the incidence of breast cancer in men with PAIS is low. Management of PAIS in infants assigned as females includes estrogen supplementation at the time of puberty, along with genitoplasty with gonadectomy before the onset of puberty.

• #18

  https://111.wales.nhs.uk/encyclopaedia/a/article/androgeninsensitivitysyndrome

  If, for any reason, a child’s testicles are removed before puberty, hormone treatment will be needed to keep them healthy and help them develop a more female body shape. […] Girls with AIS often have a shorter vagina than most other girls and women, which can make penetration during sex difficult. […] Treatment for this is usually delayed until after puberty, so that natural changes can take place. […] Women with CAIS who have had their testicles removed will need to take oestrogen to prevent the menopause and osteoporosis. […] Children with PAIS may need to take hormone supplements. Girls with PAIS who have their testicles removed may need oestrogen to encourage puberty. […] Hormone therapy will also be continued after puberty to stop people developing menopausal symptoms and weak bones (osteoporosis).

• #19 Pacific Center for Sex and Society – Androgen Insensitivity Syndrome and Klinefelter’s Syndrome

  http://www.hawaii.edu/PCSS/biblio/articles/2000to2004/2004-ais-and-klinefelters.html

  Among those persons who have AIS and live as women, vaginal enlargement is an issue that often needs to be addressed. Surgical intervention has been challenged, particularly when it is done without the informed consent of the patient. Gooren wrote: Dilation is the intervention of first choice. It is self-performed, using a progressively enlarged series of penis-shaped dilators. […] Advice regarding testosterone or dihydrotestosterone (DHT) administration to those who have AIS and live as men, as well as those who have KS, varies and is based on little experimental data. The value of androgens for those who have AIS probably is related to the exact nature of the mutation that is involved because it helps a few people but not most. In large dosages, testosterone was successful in producing significant phallic growth and enhancing male living. DHT was helpful in restoring male genital development in an infant who had PAIS. For individuals who have been gonadectomized, as well as those who have KS, hormonal management helps to prevent osteoporosis and other medical conditions.

• #19 Pacific Center for Sex and Society – Androgen Insensitivity Syndrome and Klinefelter’s Syndrome

  http://www.hawaii.edu/PCSS/biblio/articles/2000to2004/2004-ais-and-klinefelters.html

  AIS and KS benefit from many similar treatments and recommendations. Children and adolescents who have intersex conditions deserve, and benefit from, appropriate psychiatric care and counseling. The diagnosing physician should encourage such attention, even if it is not requested by the patient or parent. Therapy should be age-appropriate, honest, and open with sensitivity to intersex issues. Psychiatric care in an empathic setting is preferable to concealment or self-discovery in an environment that is devoid of support. Goodall advised that children do not view their troubles as adults do; attempts to protect them from adult knowledge may leave them vulnerable to a shocking revelation at exactly the age when conformity with peers and sexual identity are important and also could breed noncompliance with treatment. A better approach is to unfold the truth state by stage, matching simple statements to the child’s conceptual growth until the personal implications are finally realized as part of a maturing process. Bock reminds us that when the truth is withheld, children often suspect that their parents are hiding something and may imagine a condition that is worse than their actual diagnosis.

• #20 Pediatric androgen insensitivity syndrome (AIS) – Children’s Health Dallas and Plano

  https://www.childrens.com/specialties-services/conditions/androgen-insensitivity-syndrome

  The testicles most often are not removed until a child finishes growing and goes through puberty. They sometimes are removed because they can develop cancer, just like any undescended testicle. The risk of cancer is very low, however, and some individuals may choose to monitor over time with serial imaging, rather than undergo surgery. […] If the gonads are removed for complete or partial androgen insensitivity, your child’s doctor will prescribe estrogen replacement at or after puberty, to prevent menopausal symptoms and osteoporosis. […] After puberty, some patients use vaginal dilators over 3 to 6 months (or undergo surgery) to lengthen the vagina. […] Treatment and gender assignment can be a very complex issue, and must be targeted to each individual person. Your doctor can recommend counseling and psychological support for your child and your family.

• #21 Partial or Complete Androgen Insensitivity Syndrome

  https://www.urology-textbook.com/androgen-insensitivity.html

  Testosterone substitution to supranormal levels may improve virilization or fertility. Mammoplasty for treatment of gynecomastia is often required. […] An early prognosis and, thus, determination of the future sex role is not possible and is not recommended. The tumor risk of the immature intra-abdominal gonads is estimated to be higher than in CAIS (see below). Still, bilateral orchiectomy should only be offered to patients capable of giving consent. Close monitoring is necessary, however, and the gonads should be sonographically visible for this purpose. From puberty onwards, patients can decide on their gender role and accept appropriate aligning surgery, prophylactic gonad removal, and hormone therapy if necessary. […] All studies implicate a female identity in complete androgen insensitivity syndrome since the brain tissue is androgen resistant as well. The diagnosis should be addressed to the growing child with the help of psychologists. The testes produce estradiol, enough to induce and complete puberty. Due to the risk of germ cell tumors in the testes (4% at 25 years, 33% at 50 years), bilateral orchiectomy is recommended after puberty. Hormonal replacement therapy with estrogens is necessary after orchiectomy. If orchiectomy is done in childhood, puberty has to be induced with hormones. A hypoplastic vagina can be treated after puberty with self-dilatation or, if insufficient, with vaginoplasty using ileum, colon, or skin flaps.

• #22 Complete Androgen Insensitivity Syndrome: A Rare Case with 47, XXY/46, XY Mosaic Karyotype and Literature Review

  https://clinmedjournals.org/articles/ogcr/obstetrics-and-gynaecology-cases-reviews-ogcr-9-227.php?jid=ogcr

  Androgen insensitivity syndrome (AIS) is an X-linked recessive genetic disease caused by the absence or defects of androgen receptor (AR). […] She started on hormonal therapy after surgery. […] For patients with CAIS, the key to clinical treatment lies in timely orchiectomy and estrogen supplementation. […] Long-term estrogen replacement therapy is required after surgery, which helps to induce puberty, maintain secondary sexual characteristics, promote the formation of bone mineral peaks and prevent bone loss, so as to benefit physical and socio-mental health. […] The current point of view is that vaginal molds or regular sex life can effectively expand the vagina and achieve the desired depth, which is a simple, safe and effective method. […] The clinical manifestations of CAIS are relatively insidious. Clinicians should master the characteristics of this disease, identify carefully, make a clear diagnosis, and then develop an individualized treatment plan, so as to improve the life quality of patients and reduce the occurrence of tumors as much as possible.

• #23 Androgen Insensitivity Syndrome: Complete & Partial

  https://my.clevelandclinic.org/health/diseases/22199-androgen-insensitivity-syndrome

  Treatment for AIS depends on sex, which is recorded for an infant at birth. Most treatments take place after puberty. This gives your child’s body time to go through developmental changes. It also allows your child to play a more active role in their treatment decisions. […] But some health experts think certain treatments, such as removal of the testicles, should happen before puberty. They think other treatments can happen after the completion of puberty. This reduces the risk of gonadoblastomas, which are tumors that can form in undescended testicles. […] Children raised as males may choose to have: surgery to repair their male genitals, such as hypospadias repair or orchiopexy (surgery to move undescended testicles to the scrotum); breast reduction surgery to remove excess breast tissue; hernia repair to close open or weakened tissue in their abdominal wall; hormone therapy with testosterone. […] Children raised as females may choose to have: surgery to remove male genitals or extra clitoral tissue; nonsurgical vaginal dilation to make their vagina deeper; hormone therapy with estrogen.

• #24

  https://www.nhs.uk/conditions/androgen-insensitivity-syndrome/

  There are specialist healthcare psychologists who can help people with AIS understand their bodies and sex development. […] Once you have learned about your child’s sex development, and understand how their body will grow and develop, the specialist team can explain the treatment options your child might have in the future. […] Read more about how AIS is treated.

• #25 Androgen Insensitivity Syndrome – MD Searchlight

  https://mdsearchlight.com/sexual-health/androgen-insensitivity-syndrome/

  Androgen insensitivity syndrome and individuals with undescended testes, also known as cryptorchidism, are at a heightened risk of developing tumors. […] If a person has a partial androgen insensitivity syndrome (PAIS), a condition where the body cant properly respond to male sex hormones, its advised to have the cryptorchidism corrected via surgery as soon as possible. The aim is to maintain the healthy functioning of the testes and decrease the risk of cancer. […] Women who have CAIS are strongly recommended to have a gonadectomy, which is the surgical removal of the testes because the risk of developing a tumor can substantially increase with age. […] Children who are diagnosed with AIS, or Androgen Insensitivity Syndrome, are recommended to undergo a surgical procedure called gonadectomy before they hit puberty. This procedure helps to prevent female children from developing male traits and also stops the growth of tumors in the gonads, or the reproductive glands. […] For girls who have a shorter than average vagina, vaginal dilators are a successful primary treatment option to help increase the length. A group of medical professionals work together to provide complete care for patients with AIS, from the time they are diagnosed and beyond.

• #26 HIE Multimedia – Partial androgen insensitivity syndrome

  https://adamcertificationdemo.adam.com/content.aspx?productid=117&pid=1&gid=001169

  Surgery may be done to remove the testicles and reshape the genitals to provide a more female appearance. The female hormone estrogen is then given during puberty. […] Treatment and gender assignment can be a very complex issue and must be targeted to each individual person. Treatment guidelines are still evolving. […] It is vital that children with PAIS and their parents receive care and support from a health care team that includes different specialists with expertise in gender medicine. This should include mental health professionals to help provide support for both children and their parents.

• #27 Androgen insensitivity syndrome (patient information) – wikidoc

  https://www.wikidoc.org/index.php/Androgen_insensitivity_syndrome_(patient_information)

  Psychosocial support: Appropriate psychosocial support for the patient and family is very important. Parents need genetic counseling to know the nature of the condition and the risk of recurrence. Furthermore, they need to establish a long-term relationship with the doctors to discuss new problems when the child grows. The doctors of psychosociology can supply accurate and complete information about the disease, provide emotional support of the family, facilitate communication between the family and medical team.

• #28 Androgen insensitivity syndrome

  https://adamcertificationdemo.adam.com/content.aspx?productid=141&pid=1&gid=001180

  Treatment and gender assignment can be a very complex issue and must be targeted to each individual person. Treatment guidelines are still evolving. […] It is vital that children with AIS and their parents receive care and support from a health care team that includes different specialists with expertise in gender medicine. This should include mental health professionals to help provide support for both children and their parents.

• #29 Orphanet: Complete androgen insensitivity syndrome

  https://www.orpha.net/en/disease/detail/99429

  Management and treatment includes removal of the testes, either after puberty when feminization is complete or before puberty, followed by estrogen replacement therapy at the age of puberty. Vaginal dilatation may be indicated to avoid dyspareunia. Adults require bone mineral density scans every five years. Psychological support is required for disclosure. […] Prognosis for patients with CAIS is favorable if support and counseling are appropriate. Adults have normal female gender identity. Patients are infertile and have an increased risk of osteoporosis if hormone replacement is inadequate. The risk of carcinoma in situ (a pre-malignant disorder) and gonadoblastoma is less than 5%.

• #30 Androgen Insensitivity Syndrome Treatment & Management: Medical Care, Surgical Care, Consultations

  https://emedicine.medscape.com/article/924996-treatment

  Low bone mineral density (BMD) has been reported in complete androgen insensitivity syndrome (AIS), but the impact of timing of gonadectomy is not known. […] In addition, many women with androgen insensitivity syndrome require vaginal lengthening procedures. […] Vaginal lengthening procedures have stirred ongoing debate. […] Initial consultation for the child with androgen insensitivity syndrome should include a geneticist and a pediatric endocrinologist. […] Osteoporosis and psychological sequelae are the two major complications of androgen insensitivity syndrome, and their risk can be decreased significantly by appropriate therapeutic intervention. […] Androgen insensitivity syndrome prevention revolves around the identification of women who may carry the gene.

• #31 Androgen Insensitivity Syndrome Market Size to Reach USD 667.1 Million by 2035, Impelled Advances in Genetic Testing and Diagnostics – BioSpace

  https://www.biospace.com/press-releases/androgen-insensitivity-syndrome-market-size-to-reach-usd-667-1-million-by-2035-impelled-advances-in-genetic-testing-and-diagnostics

  Advances in Genetic Testing and Diagnostics: Driving the Androgen Insensitivity Syndrome Market […] The development of highly advanced genomic technologies, such as next-generation sequencing (NGS), has been able to uncover specific mutations within the androgen receptor gene that lead to AIS. Such advancements result in more precise diagnoses and efficient treatments, and thus better patient care. […] Advances in the discovery of novel therapies and pharmacological interventions have played a major role in broadening the treatment market for AIS. Treatment primarily involved the symptomatic management with approaches like hormone replacement therapy and surgical interventions. But novel treatments aim at enhancing the quality of life in those affected. […] The new emerging technologies are gene therapies, targeted treatments, and androgen receptor modulation that have the potential to revolutionize AIS management.

• #32 Androgen Insensitivity Syndrome Market Size to Reach USD 667.1 Million by 2035, Impelled Advances in Genetic Testing and Diagnostics – BioSpace

  https://www.biospace.com/press-releases/androgen-insensitivity-syndrome-market-size-to-reach-usd-667-1-million-by-2035-impelled-advances-in-genetic-testing-and-diagnostics

  Attempts are being made to refine the androgen replacement therapies, and there is increased interest in creating drugs that will increase tissue sensitivity to androgens. […] Novel treatments for androgen insensitivity syndrome (AIS) are focusing on improving quality of life and addressing the hormonal imbalances associated with the condition. Research is exploring gene therapy to correct the underlying mutations in the androgen receptor gene, offering the potential for a more permanent solution. Additionally, advances in androgen receptor modulation are being studied to enhance sensitivity to androgens in affected individuals. New hormone replacement therapies aim to address puberty and fertility concerns, while psychological and gender-affirming interventions are also integral to managing AIS in a holistic manner. These innovations are helping to provide personalized and effective care.

• #33 Androgen insensitivity syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Androgen_insensitivity_syndrome

  Management of AIS is currently limited to symptomatic management; no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutations. Areas of management include sex assignment, genitoplasty, gonadectomy in relation to tumor risk, hormone replacement therapy, genetic counseling, and psychological counseling. […] Management of AIS is currently limited to symptomatic management; no method is currently available to correct the malfunctioning androgen receptor proteins produced by AR gene mutations. Areas of management include sex assignment, genitoplasty, gonadectomy to reduce tumor risk, hormone replacement therapy, genetic counseling, and psychological counseling.

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