Living with SERKAL syndrome
A rare genetic syndrome present before birth with female-to-male sex reversal and differences in the kidneys, adrenal glands, and lungs.
Understanding SERKAL syndrome
The name stands for SEx Reversion, Kidneys, Adrenal and Lung dysgenesis. It involves female-to-male sex reversal and underdeveloped kidneys, adrenal glands, and lungs. It begins during pregnancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Sex reversal
- Absent kidneys
- Underdeveloped lungs
- Low amniotic fluid in pregnancy
- Adrenal gland differences
- Heart and diaphragm differences
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 and urinary and male reproductive system specialists.
- 3Consider genetic testing
Changes in WNT4 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); 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
It is caused by changes in the WNT4 gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: 46,xx sex reversal with dysgenesis of kidneys adrenals and lungs; 46,xx sex reversal with dysgenesis of kidneys, adrenals, and lungs; serkal; serkal (sex reversion, kidney, adrenal and lung dysgenesis) syndrome; sex reversion-kidneys, adrenal and lung dysgenesis syndrome; sex reversion, kidney, adrenal and lung dysgenesis 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 SERKAL syndrome.
Explore research for SERKAL syndrome
Explore actively recruiting SERKAL syndrome studies with HealthSpark.
Find actively recruiting studies for SERKAL 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 SERKAL 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 SERKAL 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 SERKAL 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.