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- Title
Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism.
- Authors
Caruso, Manuela; Mazzatenta, Diego; Asioli, Sofia; Costanza, Giuseppe; Trivellin, Giampaolo; Franke, Martin; Abboud, Dayana; Hanson, Julien; Raverot, Véronique; Pétrossians, Patrick; Beckers, Albert; Cappa, Marco; Daly, Adrian F.
- Abstract
X-linked acrogigantism (X-LAG) is a rare form of pituitary gigantism that is associated with growth hormone (GH) and prolactin-secreting pituitary adenomas/pituitary neuroendocrine tumors (PitNETs) that develop in infancy. It is caused by a duplication on chromosome Xq26.3 that leads to the misexpression of the gene GPR101, a constitutively active stimulator of pituitary GH and prolactin secretion. GPR101 normally exists within its own topologically associating domain (TAD) and is insulated from surrounding regulatory elements. X-LAG is a TADopathy in which the duplication disrupts a conserved TAD border, leading to a neo-TAD in which ectopic enhancers drive GPR101 over-expression, thus causing gigantism. Here we trace the full diagnostic and therapeutic pathway of a female patient with X-LAG from 4Cseq studies demonstrating the neo-TAD through medical and surgical interventions and detailed tumor histopathology. The complex nature of treating young children with X-LAG is illustrated, including the achievement of hormonal control using a combination of neurosurgery and adult doses of firstgeneration somatostatin analogs.
- Subjects
CHROMOSOME duplication; PITUITARY tumors; NEUROENDOCRINE tumors; SOMATOTROPIN; SOMATOSTATIN; SOMATOTROPIN receptors; PITUITARY dwarfism; HISTOPATHOLOGY
- Publication
Frontiers in Endocrinology, 2024, p1
- ISSN
1664-2392
- Publication type
Article
- DOI
10.3389/fendo.2024.1345363