Swyer syndrome

Common Name(s)

Swyer syndrome, Pure Gonadal Dysgenesis (Swyer Syndrome), XY Pure Gonadal Dysgenesis

Swyer syndrome is a condition in which individuals with one X chromosome and one Y chromosome in each cell, the pattern normally found in males, have a female appearance. Those with Swyer syndrome are typically raised as females and have a female gender identity. People with this condition have female external genitalia and a normal uterus and Fallopian tubes. However, they do not have functional gonads (ovaries or testes). Instead, they have undeveloped clumps of tissue, called streak gonads. These abnormal gonads often become cancerous, so they are usually surgically removed early in life. The genes known to cause this condition include the DHH, NR0B1, NR5A1, and SRY genes. Swyer syndrome has different patterns of inheritance depending on the underlying cause.
 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Swyer syndrome" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Swyer syndrome" returned 21 free, full-text research articles on human participants. First 3 results:

Dysgerminoma in a case of 46, XY pure gonadal dysgenesis (Swyer syndrome): a case report.
 

Author(s): Yang Han, Yan Wang, Qingchang Li, Shundong Dai, Anguang He, Enhua Wang

Journal:

 

Simple 46, XY gonadal dysgenesis syndrome, also called Swyer syndrome, is known as pure gonadal dysgenesis. Individuals with the syndrome are characterized by 46, XY karyotype and phenotypically female with female genital appearance, normal Müllerian structures and absent testicular ...

Last Updated: 30 Sep 2011

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Swyer-James syndrome with peculiar course and ipsilateral pulmonary vein defect.
 

Author(s): Bai Chong, Song Xiao-Lian, Shi Hui, Yao Xiao-Peng, Li Qiang

Journal: Intern. Med.. 2011 ;50(17):1829-33.

 

Swyer-James syndrome (SJS) is a rare disease probably resulting from bronchiolitis obliterans. The radiological findings of this entity are characterized by hyperlucent appearance of one or more lobes of a unilateral lung, decreased lung volume, diminished ipsilateral hilar shadow ...

Last Updated: 1 Sep 2011

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Swyer-James-McLeod's syndrome and pneumothorax on same side: delay in chest drain removal despite full expansion.
 

Author(s): Nadeem Anwar, Rajesh Yadavilli, Kamal Ibrahim

Journal:

 

Swyer-James-McLeod's syndrome (SJMS) occurs as a result of childhood recurrent respiratory infections. As this condition presents with few symptoms, if any, it may pass unnoticed until adulthood. The authors are presenting a case of a 17-year-old male admitted with spontaneous pneumothorax. ...

Last Updated: 18 Jun 2012

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Swyer syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.