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Disease at a Glance

Summary
46,XY sex reversal 2 is a genetic condition where a person with XY chromosomes (typically male) has female physical characteristics. This happens because of a duplication of the NR0B1 gene on chromosome Xp21.3-p21.2. The duplication causes a dosage-sensitive male-to-female sex reversal. This means that the duplication of the NR0B1 gene on the X chromosome with normal sex determining region of Y (SRY) results in 46 XY sex reversal. The condition is inherited from the mother who has normal ovarian function. The duplication can cause growth failure, intellectual disability, and multiple physical or structural differences that are present at birth. The baby does not have a variation of DAX1, which would have caused lack of certain hormones. The condition is diagnosed through genetic testing.
Summary
46,XY sex reversal 2 is a genetic condition where a person with XY chromosomes (typically male) has female physical characteristics. This happens because of a duplication of the NR0B1 gene on chromosome Xp21.3-p21.2. The duplication causes a dosage-sensitive male-to-female sex reversal. This means that the duplication of the NR0B1 gene on the X chromosome with normal sex determining region of Y (SRY) results in 46 XY sex reversal. The condition is inherited from the mother who has normal ovarian function. The duplication can cause growth failure, intellectual disability, and multiple physical or structural differences that are present at birth. The baby does not have a variation of DAX1, which would have caused lack of certain hormones. The condition is diagnosed through genetic testing.46,XY sex reversal 2 is a genetic condition where a person with XY chromosomes (typically male) has female physical characteristics. This happens because of a duplication of the NR0B1 gene on chromosome Xp21.3-p21.2. The duplication causes a dosage-sensitive male-to-female sex reversal. This means that the duplication of the NR0B1 gene on the X chromosome with normal sex determining region of Y (SRY) results in 46 XY sex reversal. The condition is inherited from the mother who has normal ovarian function. The duplication can cause growth failure, intellectual disability, and multiple physical or structural differences that are present at birth. The baby does not have a variation of DAX1, which would have caused lack of certain hormones. The condition is diagnosed through genetic testing.
Resource(s) for Medical Professionals and Scientists on This Disease:

About 46,xy sex reversal 2

Many rare diseases have limited information. Currently, GARD aims to provide the following information for this disease:

  • Population Estimate:This section is currently indevelopment.
  • Symptoms:This section is currently in development.
  • Cause:This disease is caused by a change in the genetic material (DNA).
  • Organizations:GARD is not currently aware of organizations specific to this disease.
  • Categories:Birth DefectsUrinary and Reproductive DiseasesGenetic DiseasesEndocrine Diseases
When Do Symptoms of 46,xy sex reversal 2 Begin?
This section is currently in development. 

Symptoms

This section is currently in development. 

Causes

What Causes This Disease?

Genetic Mutations

Find Your Community

How Can Patient Organizations Help?

Patient organizations can help patients and families connect. They build public awareness of the disease and are a driving force behind research to improve patients' lives. They may offer online and in-person resources to help people live well with their disease. Many collaborate with medical experts and researchers.

Services of patient organizations differ, but may include:

  • Ways to connect to others and share personal stories
  • Easy-to-read information
  • Up-to-date treatment and research information
  • Patient registries
  • Lists of specialists or specialty centers
  • Financial aid and travel resources

Please note: GARD provides organizations for informational purposes only and not as an endorsement of their services. Please contact an organization directly if you have questions about the information or resources it provides.

View GARD's criteria for including patient organizations, which can be found under the FAQs on our About page.

Patient Organizations

4 Organizations

Organization Name

Who They Serve

Helpful Links

Country

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

People With

Rare Diseases

Helpful Links
Country

United States

Participating in Clinical Studies

Clinical studies are part of clinical research and play an important role in medical advances, including for rare diseases. Through clinical studies, researchers may ultimately uncover better ways to treat, prevent, diagnose, and understand human diseases.

What Are Clinical Studies?

  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.

Why Participate in Clinical Studies?

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

What Are Clinical Studies?

Clinical studies are medical research involving people as participants. There are two main types of clinical studies:
  1. Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments.
  2. Observational studies involve recording changes over time among a specific group of people in their natural settings.
Learn more about clinical trials from this U.S. Food & Drug Administration webpage.
Read More

Why Participate in Clinical Studies?

People participate in clinical trials for many reasons. People with a disease may participate to receive the newest possible treatment and additional care from clinical study staff as well as to help others living with the same or similar disease. Healthy volunteers may participate to help others and to contribute to moving science forward.

To find the right clinical study we recommend you consult your doctors, other trusted medical professionals, and patient organizations. Additionally, you can use ClinicalTrials.gov to search for clinical studies by disease, terms, or location.
Read More

What if There Are No Available Clinical Studies?

Join the All of Us Research Program!

ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies. 
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
ClinicalTrials.gov, an affiliate of NIH, provides current information on clinical research studies in the United States and abroad. Talk to a trusted doctor before choosing to participate in any clinical study. We recommend checking this site often and searching for studies with related terms/synonyms to improve results.
Contact a GARD Information Specialist if you need help finding more information on this rare disease or available clinical studies. Please note that GARD cannot enroll individuals in clinical studies. 
Available toll-free Monday through Friday from 12 pm to 6 pm Eastern Time
(Except: Federal Holidays)
Use the contact form to send your questions to a GARD Information Specialist.

Please allow 2 to 10 business days for us to respond.
Getting a Diagnosis

Take steps toward getting a diagnosis by working with your doctor, finding the right specialists, and coordinating medical care.

Last Updated: February 2024