Living with 46,XX ovotesticular disorder of sex development
A rare difference of sex development in which a person has both ovarian and testicular tissue, with a 46,XX chromosome pattern.
Understanding 46,XX ovotesticular disorder of sex development
The tissue is confirmed under a microscope. Features vary and can include genitals that are not clearly male or female, hypospadias, undescended testes, and polycystic ovaries. Fertility may be lower. GARD lists onset as a variety of ages.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Genitals that are not clearly male or female
- Hypospadias
- Undescended testes (cryptorchidism)
- Small scrotum or small penis
- Polycystic ovaries
- Lower fertility
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
Specialists who may be involved include genetic specialists, hormone specialists, maternal-fetal medicine specialists and urinary and male reproductive system specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
Resolve: The National Infertility Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related); Urinary and male reproductive system specialists (urologists)
- Expert care
- Expert lists: Resolve: The National Infertility Association
- 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 Resolve: The National Infertility Association
- 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
GARD says changes in genes (also called variants) cause this condition. It is listed as autosomal dominant or autosomal recessive.
Also known as: 46,xx ovotesticular dsd; ovotesticular differences of sex development; ovotesticular disorders of sex development; ovotesticular dsd
Patient organizations
- Resolve: The National Infertility AssociationInfertility · United States
Broader rare-disease groups
- 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,XX ovotesticular disorder of sex development.
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