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

Partial androgen insensitivity syndrome


Other Names:
Androgen insensitivity syndrome, partial; PAIS; Reifenstein syndrome, partial; Androgen insensitivity syndrome, partial; PAIS; Reifenstein syndrome, partial; Androgen resistance syndrome, partial; Androgen insensitivity, partial, with or without breast cancer See More
Categories:
Partial androgen insensitivity syndrome (PAIS) is a disorder of sex development that affects the growing reproductive and genital organs of a fetus.[1][2] Androgen insensitivity refers to the inability of the body of an individual with a 46, XY karyotype (usually leading to normal male development) to properly respond to male sex hormones (androgens).[2] In PAIS, the body partially responds to these hormones. Signs and symptoms of PAIS can vary greatly, causing a range of differences in genital appearance.[1][2] Some individuals have severe hypospadias, an unusually small penis, and bifid scrotum. More severely affected individuals may have female external genitalia with an abnormally large clitoris, partial fusion of the labia and gynecomastia (excessive development of male breasts).[1] In the least severe cases, the only symptom may be infertility. PAIS It is inherited in an X-linked recessive manner and is caused by mutations in the AR gene. Treatment depends on severity and whether the individual is being raised as male or female; management may include surgery, hormone replacement and psychological support.[2]
Last updated: 10/16/2013

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 17 |
Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Aplasia of the uterus
Absent uterus
uterus absent
[ more ] 		0000151
Bifid scrotum
Cleft of scrotum
0000048
Cryptorchidism
Undescended testes
Undescended testis
[ more ] 		0000028
Hypospadias 0000047
Infertility 0000789
Micropenis
Short penis
Small penis
[ more ] 		0000054
30%-79% of people have these symptoms
Female pseudohermaphroditism 0010458
Gonadal neoplasm 0010785
5%-29% of people have these symptoms
Gynecomastia
Enlarged male breast
0000771
Osteoporosis 0000939
1%-4% of people have these symptoms
Perineal hypospadias 0000051
Percent of people who have these symptoms is not available through HPO
Abnormality of the rib cage 0001547
Absent vas deferens 0012873
Azoospermia
Absent sperm in semen
0000027
Hypogonadism
Decreased activity of gonads
0000135
Male pseudohermaphroditism 0000037
X-linked recessive inheritance 0001419
Showing of 17 |
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

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
Human chorionic gonadotropin (hCG) stimulation should be performed to exclude an androgen biosynthetic defect. A urinary steroid profile is reliable to exclude 5-alpha-reductase deficiency (see this term) after six months of age. Other differential diagnoses include 46,XY partial gonadal dysgenesis, congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency, Denys-Drash syndrome, Smith-Lemli-Opitz syndrome (see these terms), and PAIS with a normal AR. The latter condition is strongly associated with low birth weight due to fetal growth restriction.
Visit the Orphanet disease page for more information.

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 Partial 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.
  • The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

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 Partial 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

  • Can a boy born with partial androgen insensitivity syndrome still have kids or are they always infertile? See answer


  1. Ieuan Hughes. Partial androgen insensitivity syndrome. Orphanet. January 2011; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=90797. Accessed 10/15/2013.
  2. Androgen Insensitivity Syndrome, Partial. NORD. April 11, 2008; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/844/viewAbstract. Accessed 10/15/2013.