Skip to content
How It Works
Explore
Resources Ask a Question
Who It's For
Patients
Decode results, prep for appointments, weigh options.
Caregivers & advocates
Carry the research load for someone you love.
Providers & clinicians
Resources for patients in your practice.
Log In Ask a Question
PubMed This is a summary of 66 peer-reviewed journal articles Updated
Pediatric Endocrinology

Understanding Androgen Insensitivity Syndrome (AIS)

At a Glance

Androgen Insensitivity Syndrome (AIS) is a difference of sex development where a person with male (XY) chromosomes does not fully respond to male hormones. It is a manageable condition supported by a multidisciplinary team focused on physical, hormonal, and emotional well-being.

Receiving a diagnosis of Androgen Insensitivity Syndrome (AIS) can feel overwhelming and unexpected. Whether you are a parent of a young child or a young adult navigating this for yourself, it is important to know that you are not alone and that this condition is a manageable part of life, not a medical emergency [1][2]. AIS is one of several conditions known as Differences of Sex Development (DSD)—natural variations in how the body develops reproductive or sexual anatomy [3][4].

What is Androgen Insensitivity Syndrome?

In simple terms, AIS occurs when a body with typical male chromosomes (XY) does not respond normally to androgens, which are hormones like testosterone [3]. Because the body’s cells cannot fully “hear” the signals from these hormones, the physical development of the body follows a more female or neutral path, even though the genetic instructions are XY [4][5].

AIS is an X-linked condition, meaning the genetic change is located on the X chromosome [6][7]. It is estimated that approximately 6.4 out of every 100,000 people born with a female appearance have an XY chromosome pattern, a group that includes those with AIS [5].

The Three Main Subtypes

The degree to which the body responds to androgens determines the “subtype” of the condition:

  • Complete Androgen Insensitivity Syndrome (CAIS): The body does not respond to androgens at all. Individuals typically have a completely female-typical appearance and are raised as girls [8][9].
  • Partial Androgen Insensitivity Syndrome (PAIS): The body has a partial response to androgens. This can lead to a wide range of physical appearances, including ambiguous genitalia, which may not appear clearly male or female at birth [10][11].
  • Mild Androgen Insensitivity Syndrome (MAIS): The body responds significantly to androgens, but the response is slightly impaired. This is often the least common subtype discussed in early childhood [12][13].

When and How AIS is Discovered

For many, the diagnosis comes as a surprise during routine medical moments. It is common for AIS to be discovered in two specific ways:

  1. In Infants: During a repair for an inguinal hernia (a small bulge in the groin). Surgeons may discover that what was thought to be a simple hernia is actually the presence of internal testes [14][15].
  2. In Teenagers: During puberty, a young woman may realize she has not started her period (primary amenorrhea). Medical evaluation often reveals that while her outward development is female, she does not have a uterus or ovaries [16][17].

Validating the Emotional Impact

It is completely normal to feel a range of emotions—confusion, grief, or even shock—at the time of diagnosis. For parents, there may be concerns about how to talk to their child; for young adults, there may be questions about identity, body image, and future fertility [18][19].

Current medical practice has shifted toward patient-centered care, prioritizing transparency and emotional well-being [20][21]. Specialized psychological support is now considered a core part of treatment to help individuals and families process the diagnosis and feel empowered in their identity [16][18].

Your Care Team

While AIS is not a life-threatening emergency, it does require ongoing care from a multidisciplinary team (MDT) [1][22]. This team works together to ensure all aspects of health—physical, hormonal, and emotional—are addressed throughout your life. A typical team includes:

  • Pediatric Endocrinologists: Specialists in hormones [1].
  • Geneticists: To help explain the X-linked inheritance and what it means for other family members [2].
  • Psychologists or Counselors: To provide emotional and psychosexual support [23].
  • Urologists or Gynecologists: To manage physical health and any potential surgeries. It is highly recommended to seek a gynecologist or pelvic floor physical therapist who specifically specializes in DSDs to ensure knowledgeable, trauma-informed care [2].

Modern guidelines emphasize that many decisions, such as whether or when to have surgery or how to manage hormone replacement therapy, can be made thoughtfully over time, allowing the patient to be an active participant in their own care [20][24].

Navigating This Guide

To help you understand every facet of this condition, we have broken down the most critical topics into dedicated sections:

01

The Biology and Diagnosis of AIS

Learn about the biology of Androgen Insensitivity Syndrome (AIS) and how it is diagnosed. Understand AR gene mutations, hormone panels, and karyotype tests.

02

The Three Subtypes: CAIS, PAIS, and MAIS

Learn about the three subtypes of Androgen Insensitivity Syndrome (AIS): Complete (CAIS), Partial (PAIS), and Mild (MAIS). Understand symptoms and development.

03

Treatment Strategy and the Gonadectomy Decision

Learn about gonadectomy decisions for Androgen Insensitivity Syndrome (AIS). Understand the benefits of delaying surgery, tumor risks, and hormone health.

04

Hormone Replacement Therapy and Long-Term Health

Learn about Hormone Replacement Therapy (HRT) for Androgen Insensitivity Syndrome (AIS) after gonadectomy. Understand estrogen, testosterone, and bone health.

05

Psychological Support and Navigating the Patient Journey

Learn how to navigate the emotional journey of Androgen Insensitivity Syndrome (AIS). Discover tips for disclosure, peer support, and managing fertility grief.

Common questions in this guide

What causes Androgen Insensitivity Syndrome (AIS)?
AIS is an X-linked genetic condition that happens when a person with XY chromosomes cannot fully respond to androgens, like testosterone. Because the cells do not recognize these hormone signals, the body develops along a more female or neutral path.
What are the different types of AIS?
There are three main subtypes based on how the body responds to androgens. Complete AIS (CAIS) means no response at all, Partial AIS (PAIS) involves a partial response, and Mild AIS (MAIS) involves a slightly impaired response.
How is Androgen Insensitivity Syndrome typically diagnosed?
Diagnosis often happens unexpectedly during routine medical moments. It is commonly discovered in infants during surgery for an inguinal hernia, or in teenagers when a young woman does not start her menstrual period.
What kind of doctors treat Androgen Insensitivity Syndrome?
Care for AIS requires a multidisciplinary medical team. This typically includes pediatric endocrinologists, geneticists, psychologists or counselors, and urologists or gynecologists who specialize in differences of sex development.
How does an AIS diagnosis affect future fertility?
Fertility options vary depending on the specific subtype of AIS and individual anatomy. You should discuss your specific situation and future fertility goals with your multidisciplinary care team to understand what options may be available.

Questions to Ask Your Doctor

Curated prompts to bring to your next appointment.

  1. 1.What is the composition of the multidisciplinary team that will be managing my or my child's care?
  2. 2.Can you refer us to a gynecologist or pelvic floor physical therapist who specifically specializes in differences of sex development (DSDs)?
  3. 3.Based on the specific subtype, what are the current recommendations for the timing of any interventions versus long-term surveillance?
  4. 4.Can you connect us with a psychologist or counselor who has specific experience working with families and individuals with AIS?
  5. 5.How does this diagnosis affect future fertility and what options, if any, are currently available?

Questions For You

Tap a prompt to share your answer — we'll use it plus this page's context to start a tailored conversation.

References

References (24)
  1. 1

    Approach to the patient: comprehensive multidisciplinary care for adolescents with difference in sex development (DSD).

    Claahsen-van der Grinten HL, van Herwaarden A, Kempers M, et al.

    The Journal of clinical endocrinology and metabolism 2026; (111(4)):e1183-e1194 doi:10.1210/clinem/dgag023.

    PMID: 41572650
  2. 2

    Differences of Sex Development: Current Issues and Controversies.

    Johnson EK, Whitehead J, Cheng EY

    The Urologic clinics of North America 2023; (50(3)):433-446 doi:10.1016/j.ucl.2023.04.010.

    PMID: 37385705
  3. 3

    Complete Androgen Insensitivity Syndrome: Successful Laparoscopic Management.

    Gaur N, Singh P, Shekhar S, et al.

    Journal of obstetrics and gynaecology of India 2019; (69(Suppl 1)):53-55 doi:10.1007/s13224-017-1084-2.

    PMID: 30956493
  4. 4

    LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome.

    Pozojevic J, Sivaprasad R, Laß J, et al.

    Scientific reports 2024; (14(1)):16302 doi:10.1038/s41598-024-65439-w.

    PMID: 39009627
  5. 5

    Incidence, Prevalence, Diagnostic Delay, and Clinical Presentation of Female 46,XY Disorders of Sex Development.

    Berglund A, Johannsen TH, Stochholm K, et al.

    The Journal of clinical endocrinology and metabolism 2016; (101(12)):4532-4540 doi:10.1210/jc.2016-2248.

    PMID: 27603905
  6. 6

    Complete androgen insensitivity syndrome caused by a novel mutation in the androgen receptor gene and its mechanism.

    Zhou D, Xu H, Shen X, et al.

    Clinica chimica acta; international journal of clinical chemistry 2022; (531()):94-99 doi:10.1016/j.cca.2022.03.021.

    PMID: 35351434
  7. 7

    Preimplantation Genetic Diagnosis of Androgen Resistance Syndrome Caused by Mutation on the AR Gene in Vietnam.

    Tung NT, Sang TT, Khoa TV, et al.

    The application of clinical genetics 2024; (17()):47-56 doi:10.2147/TACG.S457634.

    PMID: 38737445
  8. 8

    Familial complete androgen insensitivity syndrome (CAIS): a case series of three siblings with emphasis on diagnosis, management, and psychosocial outcomes.

    Rajaraman V, Vishwanath U, D Cruze L

    Endocrine 2025; (89(2)):627-631 doi:10.1007/s12020-025-04264-1.

    PMID: 40360874
  9. 9

    Serial evaluation of gonads of complete androgen insensitivity syndrome from birth to puberty: Is gonadectomy necessary?

    Ueda Y, Matsumoto F, Matsui F, Matsuyama S

    Urology case reports 2025; (61()):103068 doi:10.1016/j.eucr.2025.103068.

    PMID: 40496184
  10. 10

    Long-term healthcare of people with disorders of sex development: Predictors of pubertal outcomes of partial androgen insensitivity syndrome.

    Fukami M

    EBioMedicine 2018; (37()):29-30 doi:10.1016/j.ebiom.2018.10.026.

    PMID: 30337249
  11. 11

    Partial Androgen Insensitivity Syndrome and Congenital Adrenal Hyperplasia-A Case Report of the Coexistence of Two Rare Diseases in One Patient.

    Krzyścin M, Brodowska A, Furtak G, et al.

    Reports (MDPI) 2025; (8(4)) doi:10.3390/reports8040212.

    PMID: 41283580
  12. 12

    Case Report: Laparoscopic vaginoplasty in a case of partial androgen insensitivity syndrome and a literature review of 16 cases in China.

    Qin H, Liu H, Liu Q, Li B

    Frontiers in surgery 2025; (12()):1702539 doi:10.3389/fsurg.2025.1702539.

    PMID: 41450767
  13. 13

    A Very Early Diagnosis of Complete Androgen Insensitivity Syndrome Due to a Novel Variant in the AR Gene: A Neonatal Case Study.

    Ferrante R, Tumini S, Saltarelli MA, et al.

    Biomedicines 2024; (12(8)) doi:10.3390/biomedicines12081742.

    PMID: 39200206
  14. 14

    Genetic variants, clinical characteristics, and surgical treatments of 46 children with androgen insensitivity syndrome.

    Wen X, Fan LJ, Liu P, et al.

    Asian journal of andrology 2026; (28(2)):173-178 doi:10.4103/aja202546.

    PMID: 41504504
  15. 15

    Screening for gonadal malignancy in androgen insensitivity syndrome: A systematic review.

    Mazhari N, Freedman A, Marshall C, Kokorowski P

    Journal of pediatric urology 2026; (22(1)):105624 doi:10.1016/j.jpurol.2025.09.030.

    PMID: 41102125
  16. 16

    A novel androgen resistance gene mutation (p.G590W) in complete androgen insensitivity syndrome: Emphasizing the need for early gonadectomy and integrated patient care.

    Sun HY, Wang X, Wang LX, Zhang H

    The Journal of international medical research 2025; (53(6)):3000605251350626 doi:10.1177/03000605251350626.

    PMID: 40552659
  17. 17

    Complete androgen insensitivity syndrome in a 15-year-old female with primary amenorrhea and undescended testes: a rare case report.

    Zerin F, Bhadra TK, Sadia R, Shahriar Z

    Radiology case reports 2026; (21(1)):329-332 doi:10.1016/j.radcr.2025.09.075.

    PMID: 41209089
  18. 18

    Sexual health in adult women with complete androgen insensitivity syndrome: a single centre cross-sectional study.

    Mangone A, Profka E, Rodari G, et al.

    Journal of endocrinological investigation 2025; (48(8)):1849-1855 doi:10.1007/s40618-025-02592-7.

    PMID: 40304984
  19. 19

    Complete Androgen Insensitivity Syndrome in Three Generations of Indian Pedigree.

    Kar B, Sivamani S, Kundavi S, Varma TR

    Journal of obstetrics and gynaecology of India 2016; (66(Suppl 1)):358-62 doi:10.1007/s13224-015-0736-3.

    PMID: 27651630
  20. 20

    Evolution of Gonadal Management in Complete Androgen Insensitivity Syndrome: A 25-Year Retrospective Cohort Study from a Dedicated Differences of Sex Development Service.

    Learner HI, Kalampalikis A, Da Silva P, Clarke SA

    Journal of pediatric and adolescent gynecology 2026; doi:10.1016/j.jpag.2026.02.007.

    PMID: 41698569
  21. 21

    Timing of Gonadectomy in Patients with Complete Androgen Insensitivity Syndrome-Current Recommendations and Future Directions.

    Patel V, Casey RK, Gomez-Lobo V

    Journal of pediatric and adolescent gynecology 2016; (29(4)):320-5.

    PMID: 26428189
  22. 22

    Society for Endocrinology UK Guidance on the initial evaluation of a suspected difference or disorder of sex development (Revised 2021).

    Ahmed SF, Achermann J, Alderson J, et al.

    Clinical endocrinology 2021; (95(6)):818-840 doi:10.1111/cen.14528.

    PMID: 34031907
  23. 23

    Complete androgen insensitivity syndrome in twins with discordant phenotypes: a case report and review of the literature.

    Liao K, Wang Y, Yi X

    Journal of medical case reports 2025; (19(1)):113 doi:10.1186/s13256-025-05139-9.

    PMID: 40083004
  24. 24

    Abdominal Mass in a Phenotypic Female with 46,XY Differences in Sex Development.

    Alam R, Gabrielson AT, Rabinowitz MJ, et al.

    Urology 2023; (173()):e13-e16 doi:10.1016/j.urology.2022.11.039.

    PMID: 36549576

This page provides an overview of Androgen Insensitivity Syndrome for educational purposes. Always consult your multidisciplinary healthcare team for personalized medical advice, emotional support, and care decisions.

Get notified when new evidence is published on Androgen insensitivity syndrome.

We monitor PubMed for new peer-reviewed studies on this topic and email a short summary when something meaningful changes.