Collins–Sakati syndrome

Collins–Sakati Syndrome (CSS), also known as Hypogonadism, Diabetes Mellitus, Alopecia, Mental Retardation and Electrolyte Imbalance Syndrome, is a rare genetic disorder characterized by a spectrum of clinical features including hypogonadism, diabetes mellitus, alopecia (hair loss), intellectual disability, and electrolyte imbalance. First described by Collins and Sakati in 1974, the syndrome is extremely rare with few documented cases worldwide, making it a subject of ongoing research in the field of genetic disorders.

Symptoms and Signs

The clinical presentation of Collins–Sakati Syndrome can vary significantly among affected individuals. However, common symptoms include:

• Hypogonadism: A condition in which the sex glands produce little or no hormones. In males, this can lead to features such as small testes, and in females, it can result in irregular menstrual cycles or absence of menstruation.
• Diabetes Mellitus: A metabolic disorder characterized by high blood sugar levels over a prolonged period.
• Alopecia: An autoimmune condition leading to hair loss on the scalp, face, and sometimes on other areas of the body.
• Intellectual Disability: Varying degrees of cognitive impairment.
• Electrolyte Imbalance: Abnormal levels of electrolytes in the body, which can affect a multitude of bodily functions.

Causes

Collins–Sakati Syndrome is believed to be caused by genetic mutations; however, the specific genes involved have not been conclusively identified. It is thought to be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected by the syndrome.

Diagnosis

Diagnosis of Collins–Sakati Syndrome is challenging due to its rarity and the variability of its symptoms. It typically involves a comprehensive clinical evaluation, detailed patient history, and may include genetic testing to identify mutations that could be responsible for the syndrome. Differential diagnosis is crucial to rule out other conditions that may present with similar symptoms.

Treatment

There is no cure for Collins–Sakati Syndrome, and treatment is symptomatic and supportive. Management strategies may include:

• Hormone replacement therapy for hypogonadism.
• Management of diabetes mellitus through medication, diet, and lifestyle changes.
• Supportive therapies for intellectual disability, including special education and vocational training.
• Treatment for electrolyte imbalance, which may involve dietary modifications and medication.

Prognosis

The prognosis for individuals with Collins–Sakati Syndrome varies depending on the severity of the symptoms and the effectiveness of management strategies. Early diagnosis and intervention can improve the quality of life for those affected by the syndrome.

See Also

• Genetic Disorders
• Metabolic Disorders
• Endocrine Disorders

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