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

 

Condition Specific Organizations

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

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

Last Updated: 12 Jan 2015

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General Support Organizations

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How do you compare to others with this condition?

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Advocacy and Support Organizations

 

Condition Specific Organizations

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

AIS-DSD Support Group

The AIS-DSD Support Group is a compassionate community of individuals, families and allies collaborating to promote better lives and informed decision-making through advancement of knowledge so no one will face a diagnosis alone.

http://www.aisdsd.org

Last Updated: 12 Jan 2015

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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 24 free, full-text research articles on human participants. First 3 results:

A case of Swyer-James-MacLeod syndrome diagnosed in adulthood.
 

Author(s): Nurefşan Boyacı, Ömer Karakaş, Funda Yalçin, Sema Yildiz, Hasan Çeçe

Journal: Tuberk Toraks. 2013 ;61(4):355-6.

 

Last Updated: 10 Feb 2014

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Adult diagnosis of Swyer-James-Macleod syndrome: retrospective analysis of four cases.
 

Author(s): Hadice Selimoglu Sen, Mahsuk Taylan, Ozlem Abakay, Cengizhan Sezgi, Mehmet Guli Cetincakmak

Journal: Respir Care. 2014 Apr;59(4):e51-4.

 

Swyer-James-Macleod syndrome (SJMS) is a rare constrictive bronchiolitis with air-flow obstruction and a decreased number and diameter of ipsilateral peripheral pulmonary vessels. This syndrome is characterized by unilateral hyperlucency on chest radiography. Computed tomography provides ...

Last Updated: 9 Apr 2014

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Adult diagnosis of Swyer-James-Macleod syndrome.
 

Author(s): Onur Tutar, Deniz Esin Tekcan, Cesur Samanci, Ahmet Bas

Journal:

 

Swyer-James-Macleod syndrome (SJMS) is a rare, complex disease characterised by unilateral hyperlucent lung or lobe owing to loss of pulmonary vasculature and alveolar hyperdistention. Patients with SJMS may be asymptomatic at diagnosis, but its differential diagnosis with asthma ...

Last Updated: 11 Dec 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 1 free, full-text review articles on human participants. First 3 results:

VATS bullectomy and apical pleurectomy for spontaneous pneumothorax in a young patient with Swyer-James-Mc Leod syndrome: case report presentation and literature review focusing on surgically treated cases.
 

Author(s): Nikolaos Panagopoulos, Gerasimos Papavasileiou, Efstratios Koletsis, Myrto Kastanaki, Nikolaos Anastasiou

Journal:

 

Swyer-James-McLeod Syndrome (SJMS) is an uncommon, emphysematous disease characterized by radiologic hyperlucency of pulmonary parenchyma due to loss of the pulmonary vascular structure and to alveolar overdistension.

Last Updated: 21 Jan 2014

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

There are currently no related results available in Genetic Testing Registry.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.