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Disease Profile
Androgen insensitivity syndrome
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Unknown
Age of onset
Neonatal
ICD-10
E34.5
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
AIS; Testicular feminization syndrome (formerly); DHTR deficiency;
Categories
Male Reproductive Diseases
Summary
Androgen insensitivity
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.
| 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 |
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 |
0008232 | |
| Elevated circulating luteinizing hormone level | 0011969 | |
| Female external genitalia in individual with 46,XY |
0008730 | |
| Growth abnormality |
Abnormal growth
Growth issue
[ more ] |
0001507 |
|
Enlarged male breast
|
0000771 | |
| Labial hypoplasia |
Underdeveloped labia
|
0000066 |
| Neoplasm | 0002664 | |
| Primary amenorrhea | 0000786 | |
| 0001419 | ||
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: https://www.accordalliance.org/contact/email-us.html
Website: https://www.accordalliance.org/ -
AIS-DSD Support Group
P.O. Box 2148
Duncan, OK 75354-2148
E-mail: https://aisdsd.org/contact
Website: https://www.aisdsd.org/ -
Resolve: The National Infertility Association
7918 Jones Branch Drive, Suite 300
McLean, VA 22102
Telephone: 703-556-7172
Fax: 703-506-3266
E-mail: [email protected]
Website: https://www.resolve.org
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
- 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 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.
- 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.
References
- Androgen insensitivity syndrome. Genetics Home Reference. May 2008; https://ghr.nlm.nih.gov/condition/androgen-insensitivity-syndrome. Accessed 3/30/2011.