Other affected males inherit the duplication from their affected mother, and it is found in all the body's cells.
As cells continue to divide, only cells arising from the first abnormal cell will have the variant. The genetic changes, which are called somatic variants, arise randomly in one cell during embryonic development. In males, the condition often results from somatic mosaicism, in which some of an affected person's cells have the duplication and others do not. The duplication is found in all of the cells in the affected person's body. In females, the condition results from new ( de novo ) duplications involving the GPR101 gene that occur during the formation of a parent's reproductive cells (eggs or sperm). A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons. In males (who have only one X chromosome), a duplication of the only copy of the gene in each cell causes the disorder. In females (who have two X chromosomes), a duplication of one of the two copies of the GPR101 gene in each cell is sufficient to cause the disorder. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes. X-LAG follows an X-linked dominant inheritance pattern. Some people with X-LAG have additional signs and symptoms such as facial features that are described as coarse disproportionately large hands or feet (acral enlargement) an increased appetite and a skin condition called acanthosis nigricans, in which the skin in body folds and creases becomes thick, dark, and velvety. The abnormal gland can also release excess amounts of another hormone called prolactin, which helps control the function of the internal reproductive organs (gonads).
The abnormal gland releases excess amounts of growth hormone, a hormone that normally helps direct growth of the body's bones and tissues.
Rarely, an affected individual has both pituitary hyperplasia and a pituitary neuroendocrine tumor. Individuals with X-LAG may have the condition as a result of enlargement (hyperplasia) of the gland or development of a noncancerous tumor in the gland (called a pituitary neuroendocrine tumor or PitNET).
The pituitary gland, which is found at the base of the brain, produces hormones that control many important body functions, including growth. This rapid growth is caused by an abnormality of the pituitary gland. Babies with this condition are a normal size at birth but begin to grow rapidly in infancy or early childhood, and affected children are taller than their peers. X-linked acrogigantism (X-LAG) is a condition that causes abnormally fast growth beginning early in life.
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