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We report a striking phenotype of gigantism that has an onset in early childhood and that is caused by an excess of growth hormone. Other syndromic genetic overgrowth conditions in children, such as the Sotos syndrome and the Simpson–Golabi–Behmel syndrome, are not associated with pituitary abnormalities. 5 In young children, somatic overgrowth that is due to an excess of growth hormone is rare, and the cause is unknown. 2-4 Other monogenic diseases can cause gigantism, but most of these conditions develop in adulthood in association with other tumors. Nonsyndromic gigantism is most frequently caused by pituitary adenomas occurring as familial isolated pituitary adenomas or sporadically, usually as a result of mutations in the gene encoding aryl hydrocarbon receptor–interacting protein ( AIP). If the excess in growth hormone occurs before epiphyseal fusion, the result can be gigantism. 1 Genetic disorders that affect this network can lead to increased secretion of growth hormone, which results in acromegaly. Somatic growth is orchestrated by a complex hormonal crosstalk involving the hypothalamus, pituitary, and peripheral tissues. (Funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development and others.) Introduction We also found a recurrent mutation in GPR101 in some adults with acromegaly. Duplication of GPR101 probably causes X-LAG.
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We describe a pediatric disorder (which we have termed X-linked acrogigantism ) that is caused by an Xq26.3 genomic duplication and is characterized by early-onset gigantism resulting from an excess of growth hormone. When the mutation was transfected into rat GH3 cells, it led to increased release of growth hormone and proliferation of growth hormone–producing cells. We identified a recurrent GPR101 mutation (p.E308D) in 11 of 248 patients with acromegaly, with the mutation found mostly in tumors.
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Only one of these genes, GPR101, which encodes a G-protein–coupled receptor, was overexpressed in patients' pituitary lesions. Genomic characterization of the Xq26.3 region suggests that the microduplications are generated during chromosome replication and that they contain four protein-coding genes. Of the patients with gigantism who did not carry an Xq26.3 microduplication, none presented before the age of 5 years. All the patients had disease onset during early childhood. We observed microduplication on chromosome Xq26.3 in samples from 13 patients with gigantism of these samples, 4 were obtained from members of two unrelated kindreds, and 9 were from patients with sporadic cases.
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We performed clinical and genetic studies of samples obtained from 43 patients with gigantism and then sequenced an implicated gene in samples from 248 patients with acromegaly. Increased secretion of growth hormone leads to gigantism in children and acromegaly in adults the genetic causes of gigantism and acromegaly are poorly understood. Marie Helene Schernthaner-Reiter, M.D., Ph.D.,.Original Article Gigantism and Acromegaly Due to Xq26 Microduplications and GPR101 Mutation List of authors. The most trusted, influential source of new medical knowledge and clinical best practices in the world.
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