GTR Home > Conditions/Phenotypes > Chromosome Xq26.3 duplication syndrome

Summary

Excerpted from the GeneReview: X-Linked Acrogigantism
X-linked acrogigantism is the occurrence of pituitary gigantism in an individual heterozygous or hemizygous for a germline or somatic duplication of GPR101. X-linked acrogigantism is characterized by acceleration of linear growth in early childhood – in most cases during the first two years of life – due to growth hormone (GH) excess. Most individuals with X-linked acrogigantism present with associated hyperprolactinemia due to a mixed GH- and prolactin-secreting pituitary adenoma with or without associated hyperplasia; less commonly they develop diffuse hyperplasia of the GH- and prolactin-secreting pituitary cells without a pituitary adenoma. Most affected individuals are females. Growth acceleration is the main presenting feature; other frequently observed clinical features include enlargement of hands and feet, coarsening of the facial features, and increased appetite. Neurologic signs or symptoms are rarely present. Untreated X-linked acrogigantism can lead to markedly increased stature, with obvious severe physical and psychological sequelae.

Available tests

2 tests are in the database for this condition.

Genes See tests for all associated and related genes

  • Also known as: GPCR6, PAGH2, PITA2, GPR101
    Summary: G protein-coupled receptor 101

Clinical features

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