Information for professionals View other pituitary disorders
While pituitary adenomas usually are not due to an inherited condition, in about 5-7% of the cases they occur due to inherited changes in DNA. There are a number of syndromes known to cause pituitary adenomas such as the MEN1 syndrome, Carney complex, FIPA syndrome, SDH-related pituitary adenomas and extremely rarely in neurofibromatosis and DICER1 syndrome.
Recently a new pituitary-related syndrome has been identified called X-LAG standing for X-linked acrogigantism [1]. Patients with this syndrome have increased growth starting at a very young age, usually under the age of 5. Girls are more often seen than boys, but patients from both sexes have been described (Figure 1).
The disease is caused by an abnormality on the X chromosome. A certain small area in the chromosome is duplicated leading to double the amount of DNA for the genes located in this area of chromosome X. This is called micro duplication. These micro duplications affect an area of 500,000 bases (the building blocks of DNA) containing 4 genes [1]. Scientists who identified this abnormality believe that among these genes, only one, called GPR101, is responsible for the abnormality.
Patients do not seem to have other abnormalities except the pituitary adenoma or hyperplasia with its consequences locally or due to the high growth hormone and prolactin levels. The oldest patient we are aware of with this syndrome is currently 50 years old and she has no other health issues.
Children with X-LAG typically show an early childhood form of gigantism with onset in late infancy. Patients developing gigantism due to mutations in the AIP gene usually manifest the disease in adolescence, although a few pre-pubertal cases have also been described.
If you would like to know more about X-LAG please contact us for more information.
Data are also available at this website: http://ghr.nlm.nih.gov/condition/familial-isolated-pituitary-adenoma