X-linked intellectual disability with hypopituitarism

This condition is a type of X-linked intellectual disability caused by a mutation in the SOX3 gene. People with this condition may experience learning difficulties and challenges with intellectual development. In addition, the condition is associated with hypopituitarism, meaning that the pituitary gland does not produce enough hormones, which can lead to a deficiency in growth hormone. The signs and symptoms can vary among people with this condition. Some individuals may mainly have issues related to intellectual functioning, while others might also show signs of growth hormone deficiency. It is not yet clear if mutations in SOX3 are solely responsible for all of the symptoms, or if other genetic factors may also play a role.

People with this condition may experience intellectual challenges and developmental delays. A prominent symptom is growth hormone deficiency due to hypopituitarism, which can affect physical growth. The variability in symptoms means that not everyone will experience all of these features consistently.

This condition is caused by a mutation in the SOX3 gene, which is involved in brain development and the function of the pituitary gland. The mutation disrupts normal hormone production, particularly growth hormone. It remains undetermined whether alterations in other genes might contribute to the condition as well.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.