Rare Nephrology News
Disease Profile
46,XX testicular disorder of sex development
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
1-9 / 100 000
Age of onset
Adolescent
ICD-10
Q99.1
Inheritance
Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease.
Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype.
X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Not applicable
Other names (AKA)
46,XX testicular DSD; 46,XX gonadal dysgenesis; XX male syndrome;
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Kidney and Urinary Diseases;
Summary
46,XX testicular disorder of sex development is a condition in which a person with two
Symptoms
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
| Medical Terms | Other Names |
Learn More:
HPO ID
|
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] |
0000062 |
| Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
| Male |
Decreased function of male gonad
|
0000026 |
| Polycystic ovaries | 0000147 | |
| 5%-29% of people have these symptoms | ||
| Ovotestis | 0012861 | |
| Percent of people who have these symptoms is not available through HPO | ||
| 0000006 | ||
| Azoospermia |
Absent sperm in semen
|
0000027 |
| Bifid scrotum |
Cleft of scrotum
|
0000048 |
| Decreased serum testosterone level |
Decreased serum testosterone levels
Low serum testosterone level
Low serum testosterone levels
[ more ] |
0040171 |
| Hypoplasia of the uterus |
Small uterus
Underdeveloped uterus
[ more ] |
0000013 |
| Hypoplasia of the vagina |
Underdeveloped vagina
|
0008726 |
| Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
| Perineal hypospadias | 0000051 | |
| Scrotal hypoplasia |
Smaller than typical growth of scrotum
|
0000046 |
| Sex reversal | 0012245 | |
| True hermaphroditism | 0010459 | |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- Orphanet lists international laboratories offering diagnostic testing for this condition.
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
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Conditions with similar signs and symptoms from Orphanet
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The main differential diagnoses are 45,X/46,XY mixed gonadal dysgenesis, 47,XXY Klinefelter syndrome, 46,XX ovotesticular DSD and sex chromosome mosaicisms. NR2F2 gene variants have been described in individuals with a 46,XX testicular / ovotesticular DSD phenotype associated with cardiac defects, some with congenital diaphramatic hernia and blepharophimosis-ptosis-epicanthis inversus. Rarely, others include palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome (caused by biallelic RSPO1 gene variants), SERKAL syndrome (recessive WNT4 variants) and microphthalmia with linear skin defects (MIDAS) syndrome.
Visit the Orphanet disease page for more information.
|
Organizations
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
Organizations Supporting this Disease
-
Accord Alliance
531 Route 22 East #244
Whitehouse Station, NJ 08889
Telephone: 908-349-0534
Fax: 801-349-0534
E-mail: https://www.accordalliance.org/contact/email-us.html
Website: https://www.accordalliance.org/
Learn more
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.
Where to Start
- Genetics Home Reference (GHR) contains information on 46,XX testicular disorder of sex development. This website is maintained by the National Library of Medicine.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss 46,XX testicular disorder of sex development. Click on the link to view a sample search on this topic.
References
- Emmanuèle C Délot, PhD and Eric J Vilain, MD, PhD, FACMG. Nonsyndromic 46,XX Testicular Disorders of Sex Development. GeneReviews. May 2015; https://www.ncbi.nlm.nih.gov/books/NBK1416/#xxms.Clinical_Characteristics.
- 46,XX testicular disorder of sex development. Genetics Home Reference. November 2008; https://ghr.nlm.nih.gov/condition/46xx-testicular-disorder-of-sex-development.