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  • Title: Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism.
    Author: Caruso M, Mazzatenta D, Asioli S, Costanza G, Trivellin G, Franke M, Abboud D, Hanson J, Raverot V, Pétrossians P, Beckers A, Cappa M, Daly AF.
    Journal: Front Endocrinol (Lausanne); 2024; 15():1345363. PubMed ID: 38481440.
    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 4C-seq 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 first-generation somatostatin analogs.
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