DAVID syndrome

DAVID syndrome (Deficient Anterior pituitary with Variable Immune Deficiency) is a rare genetic disorder characterized by a combination of endocrine and immune system abnormalities. The syndrome is named after the key features of the condition: deficiencies in the anterior pituitary gland and variable immune deficiencies.

Clinical Features

Individuals with DAVID syndrome typically present with a range of symptoms due to the dysfunction of the anterior pituitary gland and the immune system. Common clinical features include:

• Growth hormone deficiency
• Adrenocorticotropic hormone deficiency
• Hypothyroidism
• Hypogonadism
• Recurrent infections due to immune deficiency
• Hypoglycemia

Genetics

DAVID syndrome is often caused by mutations in genes that are crucial for the development and function of the anterior pituitary gland and the immune system. The specific genetic mutations associated with DAVID syndrome can vary, leading to the variability in clinical presentation.

Diagnosis

The diagnosis of DAVID syndrome is based on clinical evaluation, hormone testing, and genetic testing. Key diagnostic criteria include:

• Hormone levels indicating anterior pituitary deficiencies
• Immune function tests showing variable immune deficiencies
• Genetic testing to identify causative mutations

Treatment

Treatment for DAVID syndrome is multidisciplinary and typically involves:

• Hormone replacement therapy to address deficiencies in growth hormone, adrenocorticotropic hormone, thyroid hormone, and sex hormones
• Immune system support, which may include immunoglobulin replacement therapy and prophylactic antibiotics to prevent infections
• Regular monitoring and management of associated complications

Prognosis

The prognosis for individuals with DAVID syndrome varies depending on the severity of the hormone deficiencies and immune dysfunction. With appropriate treatment and management, many individuals can lead relatively normal lives, although they may require lifelong medical care.

Related Pages

• Growth hormone deficiency
• Adrenocorticotropic hormone
• Hypothyroidism
• Hypogonadism
• Hypoglycemia
• Immune deficiency

See Also

• Pituitary gland
• Endocrine system
• Immune system