Mixed gonadal dysgenesis

Common Name(s)

Mixed gonadal dysgenesis

Mixed gonadal dysgenesis is a genetic condition that causes abnormal development of the sex organs, often causing the sex organs to appear ambiguous (having features of both male and female). The most common sign of the condition is asymmetric gonads (some male and some female internal sex organs), with an individual having an undescended testis on one side of the body and a malformed or underdeveloped “streak” gonad on the other side (beginning of an ovary). The external genitalia also is ambiguous. Individuals with this condition are infertile, and the ambiguous sex organ appearance may make it difficult to classify them as male or female at birth. The abnormal sex organ development is most commonly caused by abnormal sets of sex chromosomes (the genetic material that determine whether a person is a male or female). Normal females have XX sex chromosomes and males XY sex chromosomes. People with this condition usually have a mix, with some cells having XY (the normal male set) and other cells having X0 (an abnormal female set). The expression of both male and female sex chromosomes causes the sex organs to develop abnormally. A genetic test called a karyotype that counts chromosomes can confirm a diagnosis of the condition. Although individuals with this condition are neither biologically male nor biologically female, sex assignment surgery can help individuals, if they so choose, maintain a normal female or male appearance. In addition to differences in sex organs, people with this condition are usually shorter than average and are at higher risk for gonadal cancer. Because of this risk, health care providers often recommend removal of gonads or frequent ultrasounds for cancerous growth. Talking with your baby’s physician as well as genetic and other specialist will help you understand the condition and determine the best care plan. Finding support from other families affected with mixed gonadal dysgenesis mixed may also be very helpful.

Source: Advocacy organizations associated with the condition.

 

Advocacy and Support Organizations

 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Mixed gonadal dysgenesis" 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 "Mixed gonadal dysgenesis" returned 10 free, full-text research articles on human participants. First 3 results:

Unexpected finding of an intact distal vagina in an infant with mixed gonadal dysgenesis.
 

Author(s): Susanne M Cabrera, Rudy Alvarez, Martin N Kaefer, Erica A Eugster, Todd D Nebesio

Journal: J. Pediatr. Endocrinol. Metab.. 2011 ;24(9-10):831-3.

 

Mixed gonadal dysgenesis (MGD) is a form of sex chromosome disorder of sex development with large phenotypic variability. Patients with MGD typically have asymmetric and ambiguous genitalia with a combination of Müllerian and Wolffian duct derivatives. Prenatal androgen exposure ...

Last Updated: 7 Dec 2011

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Mixed gonadal dysgenesis with 45,X/46,X,idic(Y) karyotype: a case report.
 

Author(s): Priyanka Srivastava, R N Makroo, Mohit Chowdhry, Manoj Mishra, Ashish Fauzdar

Journal: Indian J Pathol Microbiol. ;54(3):655-7.

 

Last Updated: 21 Sep 2011

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Mixed gonadal dysgenesis with normal karyotype: a rare case report.
 

Author(s): Ajay Anand, Narmada P Gupta, M K Singh, Sandeep R Mathur, Rishi Nayyar

Journal: Indian J Pathol Microbiol. ;53(2):313-5.

 

Mixed gonadal dysgenesis (MGD) presents as a unilateral testis, usually intraabdominal, a streak gonad on contralateral side, and persistent mullerian structures. 45X/45XY karyotype is most frequent in such cases with predominance of 45X cells in both peripheral lymphocytes and gonads. ...

Last Updated: 16 Jun 2010

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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 "Mixed gonadal dysgenesis" returned 1 free, full-text review articles on human participants. First 3 results:

A case of mixed gonadal dysgenesis (MGD)--with a review of MGD patients reported in Japan.
 

Author(s): N Yamakita, K Yasuda, H Mori, M Kuriyama, Y Kumamoto, K Miura

Journal: Jpn. J. Med.. ;28(6):744-52.

 

A 17-year-old patient with mixed gonadal dysgenesis (MGD) showing ambiguous genitalia and hypergonadotropic hypogonadism was described. By intraabdominal exploration, a poorly developed uterus with a fallopian tube and a streak gonad was found on the right side and a poorly developed ...

Last Updated: 31 May 1990

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Symptoms, Diagnosis, and Treatment

There are currently no related results available in GeneReviews.

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases
 

Status: Recruiting

Condition Summary: Denys-Drash Syndrome; Frasier Syndrome; Nephrotic Syndrome; Wilms Tumor

 

Last Updated: 2 Dec 2010

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