Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism.

Autor:	Caruso M; Department of Pediatrics, Azienda Policlinico Università di Catania, Catania, Italy., Mazzatenta D; Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.; Istituto di Ricovero e Cura a Carattere Scientifico Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Asioli S; Department of Biomedical and Neuromotor Sciences (DIBINEM), Alma Mater Studiorum, University of Bologna, Bologna, Italy.; Istituto di Ricovero e Cura a Carattere Scientifico Istituto delle Scienze Neurologiche di Bologna, Bologna, Italy., Costanza G; Department of Pediatrics, Azienda Policlinico Università di Catania, Catania, Italy., Trivellin G; Department of Biomedical Sciences, Humanitas University, Milan, Italy.; Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Humanitas Research Hospital, Milan, Italy., Franke M; Andalusian Center for Developmental Biology (CABD), Junta de Andalucía- Universidad Pablo de Olavide (UPO) - Consejo Superior de Investigaciones Cientificas (CSIC), Sevilla, Spain., Abboud D; Center for Interdisciplinary Research on Medicines (CIRM) - Laboratory of Medicinal Chemistry, and Laboratory of Molecular Pharmacology, GIGA-Molecular Biology of Diseases, University of Liège, Liège, Belgium., Hanson J; Center for Interdisciplinary Research on Medicines (CIRM) - Laboratory of Medicinal Chemistry, and Laboratory of Molecular Pharmacology, GIGA-Molecular Biology of Diseases, University of Liège, Liège, Belgium., Raverot V; Laboratoire d'hormonologie Centre de Biologie et Pathologie Est (CBPE)-Groupement Hospitalier Est, Hospices civils de Lyon, Bron, France., Pétrossians P; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Beckers A; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Cappa M; Research Unit, Innovative Therapies for Endocrinopathies, Scientific Directorate, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy., Daly AF; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium.
Jazyk:	angličtina
Zdroj:	Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2024 Feb 28; Vol. 15, pp. 1345363. Date of Electronic Publication: 2024 Feb 28 (Print Publication: 2024).
DOI:	10.3389/fendo.2024.1345363
Abstrakt:	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. Competing Interests: AD, GT, and AB hold a patent on GPR101 and its function US Patent No. 10,350,273, Treatment of Hormonal Disorders of Growth. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. (Copyright © 2024 Caruso, Mazzatenta, Asioli, Costanza, Trivellin, Franke, Abboud, Hanson, Raverot, Pétrossians, Beckers, Cappa and Daly.)
Databáze:	MEDLINE
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