The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormal hair quantity||90%|
|Abnormality of female internal genitalia||90%|
|Hernia of the abdominal wall||50%|
|Absent facial hair||-|
|Elevated follicle stimulating hormone||-|
|Elevated luteinizing hormone||-|
|Female external genitalia in individual with 46,XY karyotype||-|
|Sparse axillary hair||-|
|Sparse pubic hair||-|
|X-linked recessive inheritance||-|
The resources below provide information about treatment options for this condition. If you have questions about which treatment is right for you, talk to your healthcare professional.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
How does androgen insensitivity syndrome affect gender identity? See answer