A significant minority of childhood-onset pituitary adenomas and 10% of familial isolated pituitary adenomas are thought to be caused by a constitutional (germline) genetic variant.

A significant minority of childhood-onset pituitary adenomas and 10% of familial isolated pituitary adenomas are thought to be caused by a constitutional (germline) genetic variant.

McCune-Albright syndrome is a mosaic disorder caused by variants in the GNAS gene. It occurs sporadically: vertical transmission (that is, someone inheriting the condition from their parents) has never been reported. It is characterised by café-au-lait macules, endocrine dysfunction and polyostotic fibrous dysplasia.

Café-au-lait macules are pigmented lesions (patches) that can be found anywhere on the body and typically range from light to dark brown in colour. The appearance of one or two is common within the general population. However, multiple café-au-lait macules in children, especially when accompanied by other suggestive features, may indicate an underlying genetic condition.