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

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

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
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		0000771
Muscle cramps		0003394
Sensory neuropathy		0000763
Testicular gonadoblastoma		0000030
Tremor	Tremors	0001337

Showing of 16 |

Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 4/1/2018

Do you have updated information on this disease? We want to hear from you.

Organizations Organizations

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

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 Complete 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.
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

News

National DNA Day Reddit "Ask Me Anything" (AMA) Series
April 11, 2018

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