Woodhouse–Sakati syndrome

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Woodhouse–Sakati syndrome is a rare autosomal recessive genetic disorder characterized by a variety of clinical features, including hypogonadism, alopecia, diabetes mellitus, hearing loss, and intellectual disability. The syndrome was first described by Woodhouse and Sakati in 1983.

Clinical Features

Individuals with Woodhouse–Sakati syndrome typically present with a combination of the following symptoms:

• Hypogonadism: Underdevelopment of the gonads, leading to reduced levels of sex hormones and infertility.
• Alopecia: Loss of hair, which can be partial or complete.
• Diabetes mellitus: A metabolic disorder characterized by high blood sugar levels.
• Hearing loss: Partial or complete loss of hearing.
• Intellectual disability: Impaired cognitive function and developmental delays.
• Dystonia: Involuntary muscle contractions causing repetitive movements or abnormal postures.
• Hypothyroidism: Reduced function of the thyroid gland.

Genetics

Woodhouse–Sakati syndrome is caused by mutations in the DCAF17 gene, which is located on chromosome 2. The syndrome follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis

The diagnosis of Woodhouse–Sakati syndrome is based on clinical evaluation, family history, and genetic testing to identify mutations in the DCAF17 gene. Additional tests may include:

• Blood tests to measure hormone levels.
• Hearing tests to assess the degree of hearing loss.
• Imaging studies such as MRI or CT scans to evaluate brain and other organ structures.

Management

There is no cure for Woodhouse–Sakati syndrome, and treatment is primarily supportive and symptomatic. Management strategies may include:

• Hormone replacement therapy for hypogonadism and hypothyroidism.
• Insulin therapy or oral hypoglycemic agents for diabetes mellitus.
• Hearing aids or cochlear implants for hearing loss.
• Physical therapy and occupational therapy to manage dystonia and improve motor skills.
• Special education programs to support individuals with intellectual disability.

Epidemiology

Woodhouse–Sakati syndrome is an extremely rare disorder, with only a few cases reported in the medical literature. It affects both males and females equally and has been identified in various ethnic groups.

See Also

• Genetic disorder
• Hypogonadism
• Alopecia
• Diabetes mellitus
• Hearing loss
• Intellectual disability