Woodhouse Sakati Syndrome: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Woodhouse Sakati Syndrome?
A primary care doctor is usually the first point of contact and coordinates care. Specialists are often involved: an endocrinologist for hormones, a cardiologist for the heart, an audiologist for hearing, a neurologist for movement problems, and a geneticist for testing and family planning.
What it is
Woodhouse Sakati syndrome is a very rare genetic condition passed down through changes in genes. It affects hormones, the heart, hearing, and movement. Doctors first described it in 1983, and only a small number of families worldwide are known to have it.
Symptoms
Signs differ from person to person, and many relate to hormones. Common features include:
- Diabetes, where the body cannot control blood sugar well.
- Hypogonadism, often causing delayed or absent puberty.
- Hearing loss that may worsen over time.
- Balding of the scalp.
- Intellectual disability.
- Movement problems, such as muscle twitches or trouble with balance.
- Heart rhythm problems.
Causes and who gets it
The syndrome happens because of changes in a gene called DCAF17. A child must get one changed copy from each parent, a pattern called autosomal recessive inheritance. Parents who each carry one changed copy usually show no symptoms.
How doctors diagnose it
Doctors start with a physical exam and family history. Blood tests check blood sugar, hormones, and organ function. Hearing tests and electrocardiograms can find hearing and rhythm problems. Genetic testing confirms the diagnosis by finding changes in the DCAF17 gene.
Treatment
There is no cure. Treatment focuses on managing each symptom and may include:
- Medicines and lifestyle changes to control blood sugar.
- Hormone replacement.
- Hearing aids or other support for hearing loss.
- Medicines for movement problems.
- Regular heart checks.
- Educational and developmental support for learning difficulties.
When to see a doctor
Anyone with several of these signs, such as delayed puberty, hearing loss, or high blood sugar, should see a doctor. Fast help is needed for chest pain, fainting, or an irregular heartbeat.
How a direct primary care or concierge doctor fits in
A direct primary care doctor is paid a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. Either can spend extra time managing this complex condition and coordinate specialist referrals.
Common questions
Is Woodhouse Sakati syndrome life threatening?
It can be serious, mostly because of heart rhythm problems and diabetes. With regular monitoring and treatment, many people manage their symptoms. Outcomes differ from person to person.
Can it be prevented?
There is no known way to prevent it. Couples with a family history may talk with a genetic counselor before or during pregnancy. A genetic counselor is a trained expert who explains inherited conditions and testing options.
Will my children have it?
A child must inherit one changed copy of the DCAF17 gene from each parent to have the syndrome. Parents who carry only one changed copy usually have no symptoms. A genetic counselor can explain the chances for a specific family.
Is it the same as diabetes?
No. Diabetes is one part of the syndrome, but the syndrome also affects hormones, hearing, the heart, and development. It needs a wider range of care than diabetes alone.
Sources
- NIH Genetic and Rare Diseases Information Center - Woodhouse-Sakati syndrome
- MedlinePlus Genetics - Woodhouse-Sakati syndrome
- MedlinePlus - Diabetes
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
