Living with 46,XY disorder of sex development
A condition in which a person with XY chromosomes has genitals that are not clearly male or female.
Understanding 46,XY disorder of sex development
Infants tend to have hypospadias (the urethra opening on the underside of the penis), atypical testis development, and reduced or no sperm production. Some people have partly to fully formed female reproductive organs, such as a uterus and fallopian tubes. People may be raised as males or females.
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
Specialists who may be involved include hormone 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.
Care & treatment
- Care team
- Hormone specialists (endocrinologists); Urinary and male reproductive system specialists (urologists)
- 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 InterConnect
- 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 doesn't describe a cause for this condition yet.
Also known as: 46, xy disorder of sex development (dsd); 46,xy differences of sex development; 46,xy disorders of sex development; 46,xy dsd
Patient organizations
- InterConnect46,XY disorder of sex development · United States
You are more than your diagnosis
Perspectives from people navigating life with 46,XY disorder of sex development.
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