Living with XY type gonadal dysgenesis-associated anomalies syndrome
A very rare genetic condition described in two sisters, with cleft lip and palate, underdeveloped gonads, short stature and body differences.
Understanding XY type gonadal dysgenesis-associated anomalies syndrome
The sisters had a 46,XY karyotype (a chromosome pattern usually seen in males) and underdeveloped gonads (streak gonads). They also had cleft lip and palate, short stature and mild developmental delay. Differences in the heart, kidneys, bones and muscles, and skin and hair were also noted.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Underdeveloped gonads (gonadal dysgenesis)
- Cleft palate
- Hole between the heart's lower chambers (VSD)
- Small or missing kidney
- Mild developmental delay and intellectual disability
- Broad thumbs and large hands
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.
- 3Consider genetic testing
Changes in PPP2R3C are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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
- 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
Changes in the PPP2R3C gene cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: gonadal dysgenesis xy type with associated anomalies; xy type gonadal dysgenesis with associated anomalies syndrome
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 XY type gonadal dysgenesis-associated anomalies syndrome.
Explore research for XY type gonadal dysgenesis-associated anomalies syndrome
Explore actively recruiting XY type gonadal dysgenesis-associated anomalies syndrome studies with HealthSpark.
Find actively recruiting studies for XY type gonadal dysgenesis-associated 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 XY type gonadal dysgenesis-associated 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 XY type gonadal dysgenesis-associated 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 XY type gonadal dysgenesis-associated 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.