دورية أكاديمية
Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism
| العنوان: | Case report: Management of pediatric gigantism caused by the TADopathy, X-linked acrogigantism |
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| المؤلفون: | Caruso, Manuela, Mazzatenta, Diego, Asioli, Sofia, Costanza, Giuseppe, Trivellin, Giampaolo, Franke, Martin, Abboud, Dayana, Hanson, Julien, Veronique Raverot, Pétrossians, Patrick, Beckers, Albert, Cappa, Marco, Daly, Adrian |
| المصدر: | Frontiers in Endocrinology, 1-9 (2024-02-28) |
| بيانات النشر: | Frontiers Media S.A., 2024. |
| سنة النشر: | 2024 |
| مصطلحات موضوعية: | gigantism, pituitary tumor, GPR101, topologically associating domain (TAD), somatostatin analog, Human health sciences, Endocrinology, metabolism & nutrition, Sciences de la santé humaine, Endocrinologie, métabolisme & nutrition |
| الوصف: | 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. |
| نوع الوثيقة: | journal article http://purl.org/coar/resource_type/c_6501 article peer reviewed |
| اللغة: | English |
| Relation: | urn:issn:1664-2392 |
| DOI: | 10.3389/fendo.2024.1345363 |
| URL الوصول: | https://orbi.uliege.be/handle/2268/315485 |
| حقوق: | open access http://purl.org/coar/access_right/c_abf2 info:eu-repo/semantics/openAccess |
| رقم الأكسشن: | edsorb.315485 |
| قاعدة البيانات: | ORBi |
| DOI: | 10.3389/fendo.2024.1345363 |
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