Materiały źródłowe

• #1 Androgen Insensitivity Syndrome – StatPearls – NCBI Bookshelf

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

  Androgen insensitivity syndrome (AIS) is a common etiology of sexual developmental disorders and results in varying phenotypes. […] This activity reviews the evaluation and treatment of androgen insensitivity syndrome (AIS) and highlights the role of the interprofessional team in evaluating and treating patients with this condition. […] Management of androgen insensitivity syndrome involves a holistic approach toward the psychological, physiological, and social well-being of the individual suffering from this disorder. […] The interprofessional team plays a crucial role in looking after patients with AIS throughout their journey from the time of being diagnosed with this condition and thereafter. […] Education of the families with newborns with androgen insensitivity syndrome is vital for optimizing the plan of care for the newborn into adulthood, which is achievable by undertaking an interprofessional team approach with the help of the clinician, geneticist, along with support groups to tailor the needs of the individual suffering from this disorder and their families.

• #2 HIE Multimedia – Androgen insensitivity syndrome

  https://adamcertificationdemo.adam.com/content.aspx?productid=117&pid=1&gid=001180

  Androgen insensitivity syndrome (AIS) is when a person who has one X and one Y chromosome (typically seen in males) is resistant to hormones that produce a male appearance (called androgens). As a result, the person has some of the physical traits of a female, but the genetic makeup of a male. […] 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. […] Treatment and gender assignment can be a very complex issue and must be targeted to each individual person. Treatment guidelines are still evolving.

• #3 Frontiers | Complete androgen insensitivity syndrome coexisting with müllerian duct remnants: a case report and literature review

  https://www.frontiersin.org/journals/pediatrics/articles/10.3389/fped.2024.1400319/full

  Complete androgen insensitivity syndrome coexisting with müllerian duct remnants: a case report and literature review […] Androgen insensitivity syndrome (AIS, OMIM #300068) is a rare X-linked recessive genetic disorder. AIS arises from pathogenic mutations in the androgen receptor (AR) gene, leading to complete or partial resistance to androgens, resulting in varying degrees of undervirilization. AIS represents a prevalent 46,XY disorder of sexual development (DSD). The clinical manifestations and degree of androgen resistance can be classified into three types: complete AIS (CAIS), partial AIS (PAIS), and mild AIS (MAIS). In CAIS, patients exhibit pronounced feminization, characterized by female-appearing external genitalia and a blind-ended vaginal pouch. The condition may be associated with either unilateral or bilateral inguinal hernias, and patients often present with primary amenorrhea after puberty.

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

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

  Androgen insensitivity syndrome (AIS) is a common etiology of sexual developmental disorders resulting in varying phenotypes. […] Therefore, it is crucial for the clinician to have an understanding of the physiology of the androgen receptors mechanism to diagnose the condition as CAIS or PAIS accurately and plan the treatment course from birth to adulthood. […] 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.

• #5 Androgen Insensitivity Syndrome (AIS) | Childhood Development

  https://www.cincinnatichildrens.org/health/a/androgen-insensitivity-syndrome

  People with AIS have one X and one Y chromosome. Their gonads develop as testicles. Their testicles make hormones called androgens including testosterone. In people with AIS, androgens try to send messages to tell their bodies to develop, but their bodies do not receive the messages. […] We care for people with CAIS and PAIS as a team of specialists working together. Our team has specialists in endocrinology, gynecology, urology, psychology, genetics, ethics, social work and child life. Care and treatment plans depend on each patients individual needs. Treatment involves regular clinic visits. At each visit, we check growth and development. We also address patients and families needs at different ages and stages of life. Some patients may need to take hormones. […] Our team provides support and counseling to our patients and families. We want all patients and families to experience their best quality of life.

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

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

  Education of the families with newborns with androgen insensitivity syndrome is vital for optimizing the plan of care for the newborn into adulthood, which is achievable by undertaking an interprofessional team approach with the help of the clinician, geneticist, along with support groups to tailor the needs of the individual suffering from this disorder and their families. The nurse has a paramount role in educating patients with AIS and their families and making sure they have access to community support groups and to educational materials. […] The interprofessional approach is also beneficial in the education of healthcare professionals to interpret diagnostic tests accurately and avoid incorrect diagnoses and treatment of individuals from infancy to adulthood.

• #7 Androgen Insensitivity Syndrome – StatPearls – NCBI Bookshelf

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

  The nurse has a paramount role in educating patients with AIS and their families and making sure they have access to community support groups and to educational materials. […] The interprofessional approach assists in appropriate and sensitive management of the condition and prepares the child and the family to overcome the challenges with additional support from patient advocacy groups. […] Only through a coordinated interprofessional approach to the care of the patient and education of the family will the best outcomes be achieved.

• #8 Androgen Insensitivity: Symptoms, Causes, and Treatment

  https://www.verywellhealth.com/androgen-insensitivity-4173975

  Individuals with complete androgen insensitivity usually do not need any treatment prior to puberty. The exception is if their testes cause discomfort or if they can be felt in the abdominal wall. After puberty, the testes are usually removed. This reduces the risk of young women developing testicular cancer in adulthood. […] Treatment for partial androgen insensitivity is more variable. Historically, individuals with ambiguous genitalia were subject to genital surgeries. These surgeries usually were designed to make the genitals appear more feminine. However, they had permanent effects on individuals’ ability to experience sexual satisfaction. Therefore, these surgeries are no longer used as the default. […] For individuals who appear female at the time of birth, treatment for PAIS is the same as for CAIS. However, the testicles may be removed before puberty to prevent enlargement of the clitoris and fusion of the labia. Individuals who have a penis are generally assigned and maintain a male gender identity. This is likely, at least in part, because gender development in the brain is also responsive to androgens. However, for these individuals as well, the gonads are usually removed in late adolescence, due to an elevated risk of cancer. […] Individuals with AIS may also be given hormone replacement therapy, usually in the form of estrogen. This is because sex hormones play a role in numerous areas of health, including bone health. Individuals with PAIS may have sufficient bone development with their testicular testosterone.

• #9 Androgen Insensitivity | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/androgen-insensitivity

  Once the testes are removed, your daughter will need hormone replacement therapy with estrogen. She won’t need progesterone because she doesn’t have a uterus. […] Since your daughter doesn’t have an upper vagina, her vagina may be short. She may need surgery to lengthen it, but every girl is different and sexual intercourse also naturally grows the vagina. Before she becomes sexually active, she can use a vaginal dilator to gain some length. Your daughter may find the following guide from the Center for Young Women’s Health helpful: Instructions on the Use of Vaginal Dilators. […] The outlook for a child with androgen insensitivity is good if at-risk testicle tissue is removed at the proper time. Women with androgen insensitivity won’t be able to give birth to a child, because they don’t have internal reproductive organs.

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

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

  Androgen Insensitivity Syndrome (AIS) patients have complex issues including functional, sexual and psychosocial aspects. Sex assignment, external genitalia adequacy for social sex, hormonal replacement, psychosexual outcome, ideal time for gonadectomy, infertility and genetic counseling are issues that need attention in AIS care. All of them demand flexible, sensible and individualized procedures to achieve good results. […] After diagnosis, the first aspect to be considered is the time for bilateral gonadectomy. In a girl, maintenance of the gonads will allow spontaneous breast development, though breast development is similar with estrogen replacement in gonadectomized females. So far, gonadectomy is performed at early age, in order to avoid the risk of malignancies and the psychosocial difficulties in submitting an adolescent female to gonadectomy. When gonadectomy is performed before puberty, estrogen replacement is necessary to induce puberty. In general, hormonal replacement is started at the age of 11-12 years with oral or transdermal estrogen. Both ways are adequate and the patient and family can choose the route in which the compliance will be better. Due to the absence of uterus, progesterone replacement is not necessary.

• #11 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. […] 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 oral oestrogen or transdermal oestrogen in 80% (113/141). […] The most common form of HRT in our study was oral oestrogen, followed by transdermal oestrogen. […] A proportion of women with CAIS favoured the use of testosterone. […] 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.

• #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. Genitoplasty is usually necessary in PAIS females and estrogen replacement is mandatory at pubertal time, with similar recommendation as describe for CAIS patients. […] Hormonal replacement is mandatory for all gonadectomized individuals. In females, the purpose is the development of secondary sexual characteristics and an adequate and bone mass. Estrogen can be introduced in low doses (one quarter of the adult dose), at 9-11 years of age, with titration of this dosage every 6 months. The time for complete feminization is expected to be about 2 years. Oral or transdermic estrogen are alternative ways for estrogen replacement. The initial dose is 0.25 mg/day of 17-estradiol increasing the dose each 6 months considering the progression of breast development. After complete breast development, a regular dose can be introduced (1-2 mg/day of 17-estradiol continuously).

• #13

  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. […] 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. […] If a child is diagnosed with AIS, parents should be offered specialist counselling to help them understand their emotions. […] Many young children with AIS do not need special psychological help because their condition is completely natural to them. […] A long-term relationship between the child and their specialist team is ideal so any new issues can be discussed as the child gets older. […] Children with PAIS will sometimes be offered surgery to help change their body and maintain their health. […] 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.

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

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

  In male individuals, the testes are able to produce testosterone. In male AIS, at pubertal age, high testosterone doses (200-500 mg twice a week) can be used, in order to increase the penile size and to promote virilization. Maximum penile length is obtained after six months of treatment with high testosterone doses. After this period, the dose of testosterone when necessary should return to the maintenance dose.

• #15 Androgen Insensitivity Syndrome | Children’s Hospital of Philadelphia

  https://www.chop.edu/conditions-diseases/androgen-insensitivity-syndrome

  Complete androgen insensitivity syndrome is treated with estrogen replacement therapy after puberty. […] Treatment for partial androgen insensitivity syndrome may include corrective surgery to match gender identity. If your child identifies as male, hormone therapy will include testosterone. […] Ongoing psychological support is an important part of treatment. Parents of a newly diagnosed child may benefit from counseling as well.

• #16

  https://irispublishers.com/gjpnc/fulltext/diagnosis-and-management-of-androgen.ID.000584.php

  A diagnosis of AIS should be carried out with full disclosure that involves the patients and the family using an MDT that addresses functional, sexual and psychological issues. […] It is also recommended to supplement both Calcium and Vitamin D to improve bone density in those with AIS. […] Gonadectomy is advised for CAIS after puberty to allow for spontaneous pubertal development however, there is a risk of prepubertal tumors. […] Hormonal replacement therapy proves to be vital when managing those with AIS throughout puberty as well as to prevent secondary manifestations such as increasing bone density.

• #17

  https://step1.medbullets.com/evidence/20301602

  Treatment of PAIS in individuals with predominantly female genitalia is similar to treatment of CAIS, but is more likely to include prepubertal gonadectomy to help avoid increasing clitoromegaly at the time of puberty. […] It is best if the diagnosis of AIS is explained to the affected individual and family in an empathic environment, with both professional and family support. […] 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. […] Surveillance: Periodic reevaluation for gynecomastia during puberty in individuals assigned a male sex; monitoring of bone mineral density through DEXA scanning in adults.

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

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

  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. […] Contact with other individuals who have androgen insensitivity syndrome is another source of psychological and emotional support for the patient. […] For individuals with androgen insensitivity syndrome, the standard of care is an orchidectomy to prevent possible malignant degeneration of the testes. […] Osteoporosis and psychological sequelae are the two major complications of androgen insensitivity syndrome, and their risk can be decreased significantly by appropriate therapeutic intervention. These interventions involve HRT with estrogen to prevent osteoporosis and early and continuing involvement with an appropriate mental health professional for psychological and emotional support.

• #19 Androgen Insensitivity Syndrome (Testicular Feminization Syndrome) | PPT

  https://www.slideshare.net/slideshow/androgen-insensitivity-syndrome-testicular-feminization-syndrome/158535662

  Surgical care Orchidectomy Standard care to prevent malignancy (3.4% at 25 years. Up to 33% at 50 years of age) Malignant degeneration of testes. […] Current Recommendations for Gonadectomy: Gonadectomy be delayed until after the pubertal growth spurt and feminization in most subjects with CAIS. […] Additional Treatment for PAIS with male gender identity: Surgical correction of cryptorchidism in boys with PAIS soon after diagnosis to maintain testicular function and minimize the risk of malignancy.

• #20

  https://irispublishers.com/gjpnc/fulltext/diagnosis-and-management-of-androgen.ID.000584.php

  The management of androgen insensitivity syndrome will depend on the type of AIS however, the main aims of the interventions should address the functional, sexual and psychological issues such as gonadectomy accompanied hormone replacement therapy, creation of a functional vagina and providing genetic advice. […] The management of Androgen Insensitivity Syndrome (AIS) will require the correct diagnosis of the type of AIS. […] A gonadectomy is delayed allowing for spontaneous puberty to occur which is then followed by oestrogen replacement therapy. […] A prepubertal gonadectomy is preferred in those with PAIS that have predominantly female genitalia to reduce the risk of virilisation and the psychological discomfort. […] A reduction mammoplasty would be recommended in those with gynecomastia.

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

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

  Androgen insensitivity syndrome is an example of disorders of sex development (DSD). An androgen is a hormone that causes a male child to develop male characteristics. Testosterone is the most well known androgen and is made by the testes (and also in smaller amounts in the ovaries and adrenal glands of females). […] Complete androgen insensitivity is typically discovered at puberty, when a girl fails to start having periods or doesn’t develop pubic or underarm hair. […] 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.

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

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

  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. […] 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.

• #23 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

  In addition, the vulva of CAIS patients is completely feminized and they are often raised as girls, but the vagina is usually short or even only shallow-concave shape. So when necessary, the vagina needs to be reconstructed to meet the demands of their sexual life and psychological development. […] 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.

• #24 Partial androgen insensitivity syndrome – UF Health

  https://ufhealth.org/conditions-and-treatments/partial-androgen-insensitivity-syndrome

  Partial androgen insensitivity syndrome (PAIS) is when a person who has one X and one Y chromosome (typically seen in males) but is resistant to hormones that produce a male appearance (called androgens). As a result, the person has some of the physical traits of a female, but the genetic makeup of a male. […] PAIS is caused by genetic defects on the X chromosome. These defects make the body less able to respond to androgens. This leads to problems with the development of the male sex organs. At birth, the baby may have ambiguous external genitals. This means that they do not look typically either male or female. […] 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. […] 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.

• #25 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. […] Psychological support is probably the most important aspect of medical care from the patient’s point of view. In a family with an affected infant, the parents are the primary clients. Parents need genetic counseling to understand the nature of the condition and the risk of recurrence (25% for each subsequent pregnancy), as well as to identify other potential carriers.

• #26 Adult Patient with Complete Androgen Insensitivity Syndrome (CAIS)-Late Diagnosis and Serious Psychological Sequelae – Case Report

  https://www.gavinpublishers.com/article/view/adult-patient-with-complete-androgen-insensitivity-syndrome-cais-late-diagnosis-and-serious-psychological-sequelae—case-report

  The following case report aims to highlight the psychological aspect in patients with complete androgen insensitivity. […] Psychological care is crucial as women with complete androgen insensitivity syndrome (CAIS) have an increased risk of psychological, mood, and anxiety disorders. It is important that patients receive support from the time of diagnosis to help them cope with the challenges of gender identity and social roles. […] The existing vaginal recess may be sufficiently stretchy or even the size of a normal vagina. In order for the patient to make an informed decision regarding surgical correction of the external genitalia, it is recommended that this stage of treatment be carried out even after the patient has reached the age of majority. […] It is impossible to ignore such an important but sensitive issue as psychological or psychiatric care for a patient with androgen insensitivity syndrome. The presented patient received help in this area already during her hospitalization and continued for many weeks after the procedure.

• #27

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

  Androgen insensitivity syndrome (AIS) affects the development of a person’s genitals and reproductive organs. […] There are specialist healthcare psychologists who can help people with AIS understand their bodies and sex development. […] Children with AIS and their parents are supported by a team of specialists, who will offer ongoing care. […] The team will help you understand your child’s 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. […] You and your child will be offered psychological support to help you understand and cope with the diagnosis of AIS. […] You’ll be given advice about talking to your child about AIS at all ages.

• #28 Androgen Insensitivity Syndrome: Background, Pathophysiology, Epidemiology

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

  Medical care for a patient with androgen insensitivity syndrome has two aspects: hormone replacement therapy and psychological support. For individuals with androgen insensitivity syndrome, the standard of care is an orchidectomy to prevent possible malignant degeneration of the testes. […] The medical and psychological prognosis for a woman with androgen insensitivity syndrome is excellent if she has appropriate support and counseling. […] Most affected individuals report psychological trauma at diagnosis. Their reactions to the diagnosis frequently are compounded by their interactions with the medical care system, in which they often are treated as oddities and forced to undergo multiple examinations and interviews with students and residents for teaching purposes. […] Educate patients and families about the full nature of androgen insensitivity syndrome. Information for children can be provided in an age-appropriate format, taking care to be as accurate and understandable as possible. As the child matures, education should include information about issues such as vaginal hypoplasia and osteoporosis. […] Encourage patient participation in decisions about medical and surgical alternatives. All questions must be answered completely before informed consent can be granted for irreversible surgery involving reproductive organs.

• #29

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

  Parents often wonder when and what they should say to their child about their AIS. […] It’s recommended that a child fully understands their AIS before they reach puberty. […] If a child is diagnosed with AIS, parents should be offered specialist counselling to help them understand their emotions. […] Many young children with AIS do not need special psychological help because their condition is completely natural to them. […] 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. […] 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.

• #30 Androgen Insensitivity Syndrome – StatPearls – NCBI Bookshelf

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

  The nurse has a paramount role in educating patients with AIS and their families and making sure they have access to community support groups and to educational materials. […] The interprofessional approach is also beneficial in the education of healthcare professionals to interpret diagnostic tests accurately and avoid incorrect diagnoses and treatment of individuals from infancy to adulthood. […] Only through a coordinated interprofessional approach to the care of the patient and education of the family will the best outcomes be achieved.

• #31 Androgen Insensitivity Syndrome – MD Searchlight

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

  Androgen insensitivity syndrome (AIS) is a health disorder where a person is born with parts of both male and female sexual characteristics. Managing this condition involves careful attention to the mental, physical, and social well-being of the person with AIS. This also includes helping their family understand and navigate the challenges associated with this condition. The aim is to ensure the well-being of the individual from infancy into adulthood. […] This condition can’t be reversed because it is rooted in the individual’s development before birth. Therefore, an important part of management is counseling families and deciding on the appropriate gender for the individual. The plan also encompasses improving their functionality as they grow older. […] 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.

• #32 Androgen Insensitivity Syndrome – MD Searchlight

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

  Talks about post-operative care are important and should be done in an open and understanding manner, keeping in mind both the patient and their family’s viewpoints and needs. The mental and emotional wellbeing of both the patients and their families are also considered key aspects of AIS management and are given as much importance as physical health.

• #33 Androgen Insensitivity Syndrome: Symptoms, Diagnosis, and Treatment – The Kingsley Clinic

  https://thekingsleyclinic.com/resources/androgen-insensitivity-syndrome-symptoms-diagnosis-and-treatment/

  Androgen Insensitivity Syndrome (AIS) is a rare genetic condition that affects sexual development. This article will explore its risk factors, symptoms, diagnostic tests, treatments, and home management strategies for patients. […] Early diagnosis and treatment are crucial for managing symptoms and ensuring healthy development. […] Psychological support is a crucial aspect of treatment for individuals with androgen insensitivity syndrome. It helps individuals and their families cope with the emotional and psychological challenges of living with the condition. […] It is important to seek medical help if you or a loved one has been diagnosed with androgen insensitivity syndrome. Early diagnosis and treatment can prevent complications, such as osteoporosis or emotional distress. […] Living with androgen insensitivity syndrome can present unique challenges, but there are ways to improve your quality of life. First, stay informed about your condition and work closely with your healthcare team to manage symptoms. Regular check-ups and monitoring are essential to ensure your treatment plan is effective. […] Treatment options include hormone therapy, surgical interventions, and psychological support, all of which can help individuals lead healthy and fulfilling lives.

• #34 Partial Androgen Insensitivity Syndrome, Commentary 2 | Journal of Ethics | American Medical Association

  https://journalofethics.ama-assn.org/article/partial-androgen-insensitivity-syndrome-commentary-2/2005-11

  The first order of business in the management of this child’s care should be to make a definitive diagnosis of the specific intersex disorder. […] The management issues for this newborn include sex assignment and appropriate treatment of the gonads and external genitalia. […] An alternative approach is to delay surgery for as long as possible with the hope that the child may develop a gender identity. […] Whichever course is taken, a team approach to managing Baby Burdett including endocrinologists, urologists, and psychiatrists is highly recommended. […] The ethical issues raised by a case of partial androgen insensitivity include respect for autonomy and surrogate decision making, the meaning of informed consent, conflict between autonomy and beneficence, and veracity on the part of the treating physicians. […] Honesty and good clinical judgment on the part of the treating physicians are essential for a trust-based relationship with the parents and, ultimately, the child.

• #35 Androgen Insensitivity Syndrome: Complete & Partial

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

  Androgen insensitivity syndrome (AIS) is a rare, inherited, sexual development disorder. […] AIS prevents male genitals from developing as they should. It almost always results in infertility during adulthood. […] The most common symptom across all forms of AIS is infertility. People with CAIS won’t be able to get pregnant or make their partners pregnant. […] Treatment for AIS depends on sex, which is recorded for an infant at birth. Most treatments take place after puberty. […] Caring for your child’s psychological health is a huge part of managing AIS. A strong support system of healthcare providers, friends and family members who understand their condition is important. […] It’s important for people with AIS to stay in close communication with their healthcare providers and form a strong emotional support system.

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

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

  Androgen insensitivity syndrome, also known as testicular feminization, is an x-linked recessive condition resulting in a failure of normal masculinization of the external genitalia. […] Treatments may be complex, involving medical practice and medical ethics. The options are hormone replacement therapy, surgery and psychosocial support. […] Patients with androgen insensitivity syndrome may be very complex. Medical practice and court decisions appear to be moving in this direction as the new standard of care. The options are hormone replacement therapy, surgery and psychosocial support. Talk to you or your kid’s doctor about treatment options and your family’s preferences on treatment decisions. […] 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. […] For patients with complete androgen insensitivity syndrome, prognosis is good after orchidectomy at the proper time. For incomplete androgen insensitivity syndrome patients, it depends on the presence and severity of ambiguous genitalia.

• #37 Living with androgen insensitivity syndrome – Multidisciplinary care team and research | ECE2021 | European Congress of Endocrinology 2021 | Endocrine Abstracts

  https://www.endocrine-abstracts.org/ea/0073/ea0073js6.3

  Men and women who have AIS face a number of challenges. […] In this presentation, we will update endocrinologists who provide care for adults living with AIS about these changes, as they will, after transition, need to further counsel their patients and coordinate multidisciplinary care and surveillance of retained gonads in adulthood. […] Vaginal self-dilation has become a first choice therapy for vaginal hypoplasia but requires a supporting and experienced team. […] As for other DSD conditions, full transparency, adequate psychosocial support and peer contacts have been associated with positive outcomes and will in this presentation be placed ad the heart of multidisciplinary care.

• #38 Adult Patient with Complete Androgen Insensitivity Syndrome (CAIS)-Late Diagnosis and Serious Psychological Sequelae – Case Report

  https://www.gavinpublishers.com/article/view/adult-patient-with-complete-androgen-insensitivity-syndrome-cais-late-diagnosis-and-serious-psychological-sequelae—case-report

  Moreover, knowing that sexual well-being depends on both physical and psychological states, it is concluded that CAIS patients face far-reaching lack of self-confidence and lack of sexual satisfaction, or even before that, anxiety at the very thought of engaging in intercourse. […] The case underscores the importance of a multidisciplinary approach that involves gynecologists, endocrinologists, geneticists and specialists in psychiatry and psychology in the care of patients with CAIS. Further research and awareness-raising for doctors as well as parents is needed to improve understanding and treatment of this complex disease.

• #39 Partial Androgen Insensitivity Syndrome (PAIS) | Lurie Children’s

  https://www.luriechildrens.org/en/specialties-conditions/partial-androgen-insensitivity-syndrome/

  Partial Androgen Insensitivity Syndrome (PAIS) is a genetic condition characterized by a partial response of the body to testosterone, despite having 46,XY chromosomes and functional testes that produce this hormone. […] Treatment approaches for PAIS focus on addressing both the physical and psychological aspects of the condition: Psychological support: Counseling and support services are essential for individuals and families to navigate the challenges associated with PAIS. […] Individualized care plans, developed in collaboration with healthcare providers specializing in endocrinology, genetics, and urology, are essential for optimizing the health and well-being of individuals with PAIS. […] It’s crucial for healthcare providers to offer empathetic and holistic care, addressing both the physical and emotional aspects of the condition.

• #40

  https://journals.lww.com/annals-of-medicine-and-surgery/fulltext/2024/01000/complete_androgen_insensitivity_syndrome_diagnosed.86.aspx

  Androgen Insensitivity Syndrome (AIS) is a rare X-linked recessive disorder of sexual development. It results from mutations in the Androgen Receptor (AR) gene located on chromosome Xq1112. Affected individuals have a male genotype but a female phenotype. […] Management includes gonadectomy, genitoplasty, and hormone replacement therapy. […] Androgen Insensitivity Syndrome (AIS) are managed by gonadectomy, genitoplasty, and hormone replacement therapy along with psychiatric counseling. […] The patient was discharged on hormone replacement therapy to maintain normal bone mineral density and secondary sexual characteristics. […] Diagnosing and managing CAIS correctly is crucial for the individuals well-being, ensuring appropriate medical care and ethical decision-making regarding gender identity. It also promotes greater societal understanding and acceptance of intersex variations. […] All gonadectomized people are required to take hormone replacement therapy. The development of secondary sexual traits and sufficient bone mass in females are the intended outcomes. […] CAIS is managed by multidisciplinary teams like gynecologists, urologists, endocrinologists, and psychiatrists.

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