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Disease Profile

Androgen insensitivity syndrome

Prevalence
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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

AIS; Testicular feminization syndrome (formerly); DHTR deficiency;

Categories

Male Reproductive Diseases

Summary

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]

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 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

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

    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

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