Living with Woodhouse-Sakati syndrome
A genetic condition that affects hormone glands and the nervous system, with low sex hormones, hair loss, diabetes, and movement problems.
Understanding Woodhouse-Sakati syndrome
Signs vary widely, even in one family. Low sex hormones usually show in the teen years, and puberty does not progress without hormone replacement. Hair loss starts in childhood. By the mid-twenties almost everyone develops diabetes. Movement problems called dystonia often begin in the teen or young adult years.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low sex hormones (hypogonadism)
- Delayed puberty
- Hair loss and sparse eyebrows
- Diabetes
- Movement problems (dystonia)
- Hearing loss and mild intellectual disability
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 brain and nervous system specialists, genetic specialists, hormone specialists and maternal-fetal medicine specialists.
- 3Consider genetic testing
Changes in DCAF17 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Dystonia Medical Research Foundation, Resolve: The National Infertility Association and Pituitary Network Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists); Maternal-fetal medicine specialists (pregnancy-related)
- Expert care
- Expert lists: Dystonia Medical Research Foundation, Resolve: The National Infertility Association, Pituitary Network Association
- 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 NBIA Disorders Association and other patient organizations
- 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
Woodhouse-Sakati syndrome is caused by changes in the DCAF17 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: diabetes-hypogonadism-deafness-intellectual disability syndrome; diabetes-hypogonadism-hearing loss-intellectual disability syndrome; diabetes, hypogonadism, deafness, intellectual disability syndrome; hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome; hypogonadism, diabetes mellitus, alopecia, mental retardation and electrocardiographic abnormalities; woodhouse sakati syndrome
Patient organizations
- NBIA Disorders AssociationWoodhouse-Sakati syndrome · United States
- NBIAcureWoodhouse-Sakati syndrome · United States
- Dystonia Medical Research FoundationDystonia · United States
- Resolve: The National Infertility AssociationInfertility · United States
- Pituitary Network AssociationPituitary deficiencies · United States
You are more than your diagnosis
Perspectives from people navigating life with Woodhouse-Sakati syndrome.
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