Living with 46,XY sex reversal 2
A genetic condition in which a person with XY chromosomes has female physical characteristics because of a duplicated gene.
Understanding 46,XY sex reversal 2
It happens because of a duplication of the NR0B1 gene on the X chromosome. The duplication can cause growth failure, intellectual disability, and multiple physical differences present at birth. It is inherited from the mother, who has normal ovarian function. It is diagnosed with genetic testing.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet.
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
A duplication of the NR0B1 gene on the X chromosome causes this condition. It is X-linked and inherited from the mother.
Also known as: 46,xy sex reversal type 2; 46,xy sex reversal, dax1-related; 46xy sex reversal 2, dosage-sensitive; dosage-sensitive sex reversal; nr0b1-related 46,xy cgd; nr0b1-related 46,xy complete gonadal dysgenesis
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with 46,XY sex reversal 2.
Explore research for 46,XY sex reversal 2
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- Eligibility is confirmed by the study team
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