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)|
|Abnormality of the testis||90%|
|Abnormality of female external genitalia||-|
|Absence of secondary sex characteristics||-|
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
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.
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Is it possible for someone with Swyer syndrome to naturally start their period at a typical age (13)? See answer
Can women with Swyer syndrome experience orgasms? See answer
Is it possible for a patient with Swyer syndrome to get pregnant? If so, what methods should be used to ensure a successful pregnancy? See answer
I was born without ovaries. I have everything else that a normal woman has but I have streaks where ovaries would be. I was diagnosed when I was 15. My doctor put me on triphasil and soon after I started showing signs of puberty. None of my doctors seem to know about this condition. I am now 31. I am wondering if I should opt to have my streaks removed and if I should be on some other form of estrogen. I have very little breast development. See answer