Dursun syndrome

Dursun syndrome is an extremely rare genetic disorder characterized by a combination of severe congenital hypothyroidism and hypogammaglobulinemia (low levels of immunoglobulins), leading to significant immune deficiency. The condition was first described by Dursun and colleagues and is caused by biallelic mutations in the SLC5A5 gene (sodium/iodide symporter, NIS), which plays a critical role in iodide transport in the thyroid gland and is also expressed in other tissues. Affected individuals typically present in the neonatal or early infantile period with features of severe hypothyroidism, including poor growth, developmental delay, and characteristic facial features, alongside recurrent and severe infections due to the immunoglobulin deficiency. The condition affects the endocrine system (particularly the thyroid gland) and the immune system. Key clinical features include congenital hypothyroidism with impaired iodide uptake, hypogammaglobulinemia with reduced levels of IgG and other immunoglobulin classes, and susceptibility to recurrent infections. Some patients may also exhibit additional features such as hepatosplenomegaly. Treatment is supportive and includes thyroid hormone replacement therapy (levothyroxine) for the hypothyroidism and immunoglobulin replacement therapy (intravenous or subcutaneous immunoglobulin) for the immune deficiency. Early diagnosis and appropriate management are essential to prevent complications from both untreated hypothyroidism and recurrent infections. Given the extreme rarity of this condition, management is best coordinated through specialized centers with expertise in both endocrinology and immunology.

Common questions about Dursun syndrome