Summary about Disease
Woodhouse-Sakati syndrome (WSS), also known as panhypopituitarism-progressive extrapyramidal disorder, is a rare autosomal recessive genetic disorder characterized by a combination of endocrine and neurological problems. Key features typically include hypogonadism (underdeveloped sex organs), diabetes mellitus, progressive hearing loss, intellectual disability, and progressive extrapyramidal movement disorders (affecting coordination and movement). The severity of symptoms can vary significantly between affected individuals.
Symptoms
Symptoms of Woodhouse-Sakati syndrome can include:
Hypogonadism: Underdeveloped or absent testes in males, primary amenorrhea (absence of menstruation) in females.
Diabetes mellitus: Problems with blood sugar regulation.
Progressive hearing loss: Sensorineural hearing loss that worsens over time.
Intellectual disability: Varying degrees of cognitive impairment.
Extrapyramidal movement disorders: These can include dystonia (involuntary muscle contractions), rigidity, tremors, and bradykinesia (slowness of movement).
Alopecia: Hair loss
Characteristic facial features: Full lips, thick eyebrows and lashes
Other features: Seizures, cardiac anomalies (less common).
Causes
Woodhouse-Sakati syndrome is caused by mutations in the DCAF17 gene located on chromosome 2q31.1. This gene provides instructions for making a protein that is thought to be involved in the regulation of gene expression and cell growth. The condition is inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene for their child to be affected.
Medicine Used
There is no specific cure for Woodhouse-Sakati syndrome. Treatment is aimed at managing the individual symptoms and complications. Medications that may be used include:
Hormone replacement therapy: For hypogonadism (e.g., testosterone for males, estrogen and progesterone for females).
Insulin or other medications: To manage diabetes mellitus.
Hearing aids or cochlear implants: To address hearing loss.
Medications to manage movement disorders: Such as levodopa, anticholinergics, or botulinum toxin injections.
Antiepileptic drugs: To control seizures, if present.
Is Communicable
No, Woodhouse-Sakati syndrome is not communicable. It is a genetic disorder, not an infectious disease.
Precautions
There are no specific precautions to prevent Woodhouse-Sakati syndrome, as it is a genetic condition. Genetic counseling and testing may be recommended for families with a history of the syndrome who are planning to have children. Regular medical checkups and monitoring are important for individuals with WSS to manage symptoms and prevent complications.
How long does an outbreak last?
Woodhouse-Sakati syndrome is not an infectious disease that causes outbreaks. It is a chronic genetic condition, so the symptoms are persistent and progressive throughout the individual's life, although symptoms may fluctuate.
How is it diagnosed?
Diagnosis of Woodhouse-Sakati syndrome is based on a combination of clinical findings, family history, and genetic testing. Diagnostic methods include:
Clinical evaluation: Assessing the individual for the characteristic symptoms of the syndrome.
Hormone level testing: Evaluating hormone levels to assess for hypogonadism and diabetes.
Audiological testing: Assessing hearing function.
Neurological examination: Evaluating for movement disorders.
Brain MRI: To look for brain abnormalities.
Genetic testing: To confirm the diagnosis by identifying mutations in the DCAF17 gene.
Timeline of Symptoms
The onset and progression of symptoms in Woodhouse-Sakati syndrome can vary, but the following is a general timeline:
Infancy/Early Childhood: Features like facial dysmorphism or congenital abnormalities might be present. Early-onset hearing loss is sometimes seen.
Childhood/Adolescence: Hypogonadism typically becomes apparent during puberty. Diabetes mellitus may develop. Hearing loss usually progresses. Intellectual disability becomes more evident. Extrapyramidal movement disorders may begin. Alopecia may start to appear.
Adulthood: Symptoms persist and may worsen over time. The management of symptoms and potential complications becomes the focus.
Important Considerations
Multidisciplinary care: Individuals with Woodhouse-Sakati syndrome require care from a team of specialists, including endocrinologists, neurologists, audiologists, geneticists, and other healthcare professionals.
Genetic counseling: Genetic counseling is important for families with Woodhouse-Sakati syndrome to understand the inheritance pattern and recurrence risk.
Early intervention: Early diagnosis and intervention can help to manage symptoms and improve the quality of life for individuals with the syndrome.
Support groups: Connecting with other families affected by Woodhouse-Sakati syndrome can provide valuable support and information.
Research: Ongoing research is essential to better understand the underlying mechanisms of Woodhouse-Sakati syndrome and develop more effective treatments.