About Woodhouse-Sakati syndrome

What is Woodhouse-Sakati syndrome?

Woodhouse-Sakati syndrome is a rare genetic disorder characterized by hypogonadism, alopecia, diabetes mellitus, and mental retardation. It is caused by a mutation in the WDHD1 gene, which is responsible for the production of a protein involved in the regulation of steroid hormones. Symptoms of the disorder include delayed puberty, infertility, hearing loss, and skeletal abnormalities.

What are the symptoms of Woodhouse-Sakati syndrome?

The symptoms of Woodhouse-Sakati syndrome vary from person to person, but may include:

-Developmental delay
-Growth retardation
-Hearing loss
-Cataracts
-Hypogonadism
-Hypothyroidism
-Diabetes mellitus
-Cognitive impairment
-Seizures
-Abnormal facial features
-Abnormalities of the hands and feet
-Abnormalities of the heart and blood vessels
-Abnormalities of the kidneys and urinary tract
-Abnormalities of the gastrointestinal tract
-Abnormalities of the skin

What are the causes of Woodhouse-Sakati syndrome?

Woodhouse-Sakati syndrome is a rare genetic disorder caused by mutations in the PEX1, PEX6, and PEX26 genes. These genes are responsible for the production of proteins that are essential for the normal functioning of the body's cells. Mutations in these genes can lead to a variety of symptoms, including growth delays, intellectual disability, hearing loss, vision problems, and endocrine abnormalities.

What are the treatments for Woodhouse-Sakati syndrome?

Currently, there is no cure for Woodhouse-Sakati syndrome. Treatment focuses on managing the symptoms and complications associated with the condition. This may include medications to control seizures, physical therapy to help with movement and coordination, speech therapy to improve communication, and occupational therapy to help with daily activities. Other treatments may include dietary modifications, vitamin supplements, and hormone replacement therapy.

What are the risk factors for Woodhouse-Sakati syndrome?

The primary risk factor for Woodhouse-Sakati syndrome is having a parent who carries a genetic mutation in the PEX7 gene. Other risk factors include having a family history of the disorder, being of Middle Eastern or North African descent, and being male.

Is there a cure/medications for Woodhouse-Sakati syndrome?

At this time, there is no cure for Woodhouse-Sakati syndrome. However, there are medications that can help manage some of the symptoms associated with the condition. These include medications to help control seizures, manage muscle spasms, and treat other symptoms such as hearing loss, vision problems, and intellectual disability.