Swyer syndrome

Common Name(s)

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

Swyer syndrome, also called 46, XY complete gonadal dysgenesis, is a disorder that affects a person’s gender (sexual development). Gender is usually determined by the X and the Y chromosomes (sex chromosomes). Males usually have one X and one Y (46, XY) and females usually have two X’s (46, XX). Individuals with Swyer syndrome have the chromosomes of a male (46, XY) but develop female reproductive structures (internal and external female genitalia). Affected individuals will also have underdeveloped ovaries or testes (gonadal dysgenesis). They will instead have clumps of tissue, called streak gonads, which are usually surgically removed because they can become cancerous over time. People with Swyer syndrome cannot reproduce (infertile).

Changes (mutations) in the SRY, MAP3K1, NR5A1, and DHH genes are the cause of some cases of Swyer syndrome. These genes are instructions for the body to make proteins that are important for male sexual differentiation. If a baby has a mutation in one of these genes, the baby will not develop male genitalia, even if they have an X and a Y chromosome. Some cases of Swyer syndrome are caused by exposure to hormonal medication during pregnancy. The cause for most cases is unknown. When Swyer syndrome is caused by a gene mutation, it is usually not inherited from an affected parent, but is instead due to a random new mutation that occurs in the baby.

Swyer syndrome is considered in a baby who has female genitalia with streak gonads. Chromosome testing is usually ordered and shows an X and a Y chromosome. Additional genetic testing can be ordered to confirm the diagnosis. Affected children will need hormone replacement therapy for normal sexual characteristic (breasts and menstruation) development. If your child has been diagnosed with Swyer syndrome, talk to their doctor for a more specific treatment plan. Support groups are available for more information and support.

Source: Advocacy organizations associated with the condition.

 

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

A germ cell tumor in a patient with Swyer syndrome with ambiguous genitalia.
 

Author(s): Dharshana Tharanga Kulathilake, Champa Jayasundara

Journal:

 

Swyer syndrome is a rare manifestation of disorders of sex development in which the individual is 46, XY in genotype but phenotypically a female. They have normal female external genitalia with under developed female internal genitalia. They usually present with primary amenorrhoea ...

Last Updated: 8 Dec 2015

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Complication of post-infectious bronchiolitis obliterans (Swyer-James syndrome).
 

Author(s): Gabriel de Deus Vieira, Alessandra Yukari Yamagishi, Natália Nogueira Vieira, Rebeka Mayara Miranda Dias Fogaça, Thaianne da Cunha Alves, Gisele Megale Brandão Gurgel Amaral, Camila Maciel de Sousa

Journal: Rev Assoc Med Bras (1992). ;61(5):404-6.

 

Swyer-James syndrome is a complication of post-infectious bronchiolitis obliterans that causes inflammation and fibrosis of the bronchial walls. There are two types: asymptomatic, with most cases diagnosed in adults during routine radiological examinations; and symptomatic, most commonly ...

Last Updated: 25 Nov 2015

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Unilateral hyperlucent lung associated with bronchial atresia mimicking Swyer-James syndrome.
 

Author(s): Masaru Ando, Eishi Miyazaki, Hideaki Fujisaki, Shin-ichi Nureki, Jun-ichi Kadota

Journal: Respir Care. 2014 Nov;59(11):e182-5.

 

Last Updated: 31 Oct 2014

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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 Genetics Home Reference.

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.