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  3. Complete androgen insensitivity syndrome
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Complete androgen insensitivity syndrome


Title




Other Names:
CAIS; Androgen insensitivity syndrome, complete
Categories:
Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases; Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases; Kidney and Urinary Diseases; Male Reproductive Diseases See More

Summary Summary


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Complete androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. People with this condition are genetically male (one X and one Y chromosome) but do not respond to male hormones at all. As a result, they generally have normal female external genitalia and female breasts. However, they do not have a uterus or cervix so are unable to menstruate or conceive children. Other signs and symptoms may include undescended testes and sparse to absent pubic hair. Gender identity is typically female. Complete androgen insensitivity syndrome is caused by changes (mutations) in the AR gene and is inherited in an X-linked manner. Treatment and gender assignment can be a very complex issue, and must be individualized with each affected person. In general, surgery may be required to remove testes that are located in unusual places and estrogen replacement therapy can be prescribed after puberty.[1][2][3]
Last updated: 11/18/2015

Symptoms Symptoms


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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.

Showing of 16 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Absent axillary hair 0002221
Absent pubic hair 0002555
Aplasia of the uterus
Absent uterus
uterus absent
[ more ]
0000151
Aplasia/Hypoplasia of the fallopian tube
Absent/small fallopian tube
Absent/underdeveloped fallopian tube
[ more ]
0008655
Cryptorchidism
Undescended testes
Undescended testis
[ more ]
0000028
Infertility 0000789
Male pseudohermaphroditism 0000037
Nephrolithiasis
Kidney stones
0000787
Primary amenorrhea 0000786
30%-79% of people have these symptoms
Inguinal hernia 0000023
Osteoporosis 0000939
5%-29% of people have these symptoms
Gynecomastia
Enlarged male breast
0000771
Muscle spasm 0003394
Sensory neuropathy
Damage to nerves that sense feeling
0000763
Testicular gonadoblastoma 0000030
Tremor 0001337
Showing of 16 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 2/1/2021
Do you have updated information on this disease? We want to hear from you.

Related Diseases Related Diseases


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Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include 17-beta-hydroxysteroid dehydrogenase deficiency, Leydig cell hypoplasia, XY complete gonadal dysgenesis (Swyer syndrome), 5-alpha-reductase type 2 deficiency and variants of congenital adrenal hyperplasia (see these terms).
Visit the Orphanet disease page for more information.

Organizations Organizations


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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

  • Accord Alliance
    531 Route 22 East #244
    Whitehouse Station, NJ 08889
    Telephone: 908-349-0534
    Fax: 801-349-0534
    E-mail: http://www.accordalliance.org/contact/email-us.html
    Website: http://www.accordalliance.org/
  • Androgen Insensitivity Syndrome Support Group UK
    Website: http://www.aissg.org/
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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

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

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.
  • 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 Complete androgen insensitivity syndrome. Click on the link to view a sample search on this topic.

News & Events News & Events


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News

  • Rare Disease Day at NIH 2021
    March 1, 2021

GARD Answers GARD Answers


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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.

Have a question? Contact a GARD Information Specialist.

References References


  1. Androgen insensitivity syndrome. Genetics Home Reference. May 2008; http://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome.
  2. Androgen insensitivity syndrome. MedlinePlus. September 2014; https://www.nlm.nih.gov/medlineplus/ency/article/001180.htm.
  3. Bruce Gottlieb, PhD, Lenore K Beitel, PhD, and Mark A Trifiro, MD. Androgen Insensitivity Syndrome. GeneReviews. July 2014; http://www.ncbi.nlm.nih.gov/books/NBK1429/#androgen.Clinical_Description.
Do you know of a review article? We want to hear from you.
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