Living with 46,XX disorder of sex development-anorectal anomalies syndrome
A rare condition present at birth with differences in the genitals, urinary tract, and bowel opening.
Understanding 46,XX disorder of sex development-anorectal anomalies syndrome
People have a typical female chromosome pattern and ovaries, but may have male or ambiguous-looking genitals. Urinary tract differences range from mild to missing kidneys. Müllerian duct differences (such as an absent uterus and vagina) and an anus that is not open (imperforate anus) can occur. Other features can include a tracheoesophageal fistula or gut malrotation. GARD lists onset as newborn.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Anus not open (anal atresia)
- Missing or small kidney
- Swollen kidney from backed-up urine (hydronephrosis)
- Genitals that are not clearly typical
- Differences in internal genitals
- Low amniotic fluid during pregnancy
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 digestive system specialists, genetic specialists, hormone specialists and maternal-fetal medicine specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related)
- 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 Pull-thru Network
- 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. The summary describes it as a developmental defect during embryo growth.
Also known as: 46,xx disorder of sex development with anorectal anomalies syndrome; female pseudohermaphroditism with anorectal anomalies syndrome; female pseudohermaphroditism-anorectal anomalies syndrome
Patient organizations
- Pull-thru Network46,XX disorder of sex development-anorectal anomalies syndrome · United States
You are more than your diagnosis
Perspectives from people navigating life with 46,XX disorder of sex development-anorectal anomalies syndrome.
Explore research for 46,XX disorder of sex development-anorectal anomalies syndrome
Explore actively recruiting 46,XX disorder of sex development-anorectal anomalies syndrome studies with HealthSpark.
Find actively recruiting studies for 46,XX disorder of sex development-anorectal anomalies syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting 46,XX disorder of sex development-anorectal anomalies syndrome studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for 46,XX disorder of sex development-anorectal anomalies syndrome
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your 46,XX disorder of sex development-anorectal anomalies syndrome experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.