National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Androgen insensitivity syndrome


Other Names:
AIS; Testicular feminization syndrome (formerly); DHTR deficiency; AIS; Testicular feminization syndrome (formerly); DHTR deficiency; Androgen receptor deficiency; Dihydrotestosterone receptor deficiency See More
Categories:
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male, with one X chromosome and one Y chromosome in each cell. Because their bodies are unable to respond to certain male sex hormones (called androgens), they may have some physical traits of a woman. Androgen insensitivity syndrome is caused by mutations in the AR gene and is inherited in an X-linked recessive pattern.[1]
Last updated: 1/13/2016

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Absent axillary hair 0002221
Absent pubic hair 0002555
Ambiguous genitalia, male
Ambiguous genitalia in males
0000033
Aplasia/Hypoplasia of the fallopian tube
Absent/small fallopian tube
Absent/underdeveloped fallopian tube
[ more ] 		0008655
Aplasia/hypoplasia of the uterus
Absent/small uterus
Absent/underdeveloped uterus
[ more ] 		0008684
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Delayed puberty
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] 		0000823
Male infertility 0003251
Male pseudohermaphroditism 0000037
Sparse axillary hair
Limited armpit hair
Little underarm hair
[ more ] 		0002215
Sparse pubic hair
Decreased sexual hair
0002225
30%-79% of people have these symptoms
Inguinal hernia 0000023
5%-29% of people have these symptoms
Testicular neoplasm
Testicular tumor
0010788
Percent of people who have these symptoms is not available through HPO
Absent facial hair 0002550
Blind vagina 0040314
Elevated circulating follicle stimulating hormone level 0008232
Elevated circulating luteinizing hormone level 0011969
Female external genitalia in individual with 46,XY karyotype 0008730
Growth abnormality
Abnormal growth
Growth issue
[ more ] 		0001507
Gynecomastia
Enlarged male breast
0000771
Labial hypoplasia
Underdeveloped labia
0000066
Neoplasm 0002664
Primary amenorrhea 0000786
X-linked recessive inheritance 0001419
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Last updated: 7/1/2020

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Patient Registry

  • A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Androgen insensitivity syndrome. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

    Registries for Androgen insensitivity syndrome:
    Infertility Family Research Registry (IFRR)
     

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

  • Genetics Home Reference (GHR) contains information on Androgen insensitivity syndrome. This website is maintained by the National Library of Medicine.
  • MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.

In-Depth Information

  • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
  • Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Androgen insensitivity syndrome. Click on the link to view a sample search on this topic.

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question

  • How does androgen insensitivity syndrome affect gender identity? See answer


  1. Androgen insensitivity syndrome. Genetics Home Reference. May 2008; http://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome. Accessed 3/30/2011.