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J-GLOBAL ID：201902238247040581   Reference number：19A1861515

GH/PRL-secreting pituitary macroadenoma associated with GNAS p.Gln227Leu mutation: pediatric case report and review

GNAS p.Gln227Leu変異に関連するGH/PRL分泌下垂体マクロ腺腫:小児症例報告とレビュー

Author (7)： Watanabe Daisuke (Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan) ,  Yagasaki Hideaki (Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan) ,  Kojika Satoru (Department of Pediatrics, Fujiyoshida Municipal Hospital, Yamanashi, Japan) ,  Ogiwara Masakazu (Department of Neurosurgery, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan) ,  Kinouchi Hiroyuki (Department of Neurosurgery, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan) ,  Nakane Takaya (Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan) ,  Inukai Takeshi (Department of Pediatrics, Faculty of Medicine, University of Yamanashi, Yamanashi, Japan)
Material： Endocrine Journal (Web)
Volume： 66  Issue： 5  Page： 403-408(J-STAGE)  Publication year： 2019 
JST Material Number： U1479A  ISSN： 1348-4540  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： human ,...
Semi thesaurus term： genetic variation ,...

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Author keywords (5)： GH-secreting pituitary adenoma (GHoma) ,  Octreotide long-acting release (LAR) ,  Gigantism ,  Guanine nucleotide-binding protein alpha stimulating (GNAS) ,  p.Gln227Leu

JST classification (2)： Tumors(=neoplasms)of endocrine system  (GL04000P) ,  Clinical oncology in general  (GE03010Y)

Substance index (1)： Octreotide

Reference (32)：

• 1 Matsumoto R, Izawa M, Fukuoka H, Iguchi G, Odake Y, et al. (2016) Genetic and clinical characteristics of Japanese patients with sporadic somatotropinoma. Endocr J 63: 953-963.
• 2 Rostomyan L, Daly AF, Petrossians P, Nachev E, Lila AR, et al. (2015) Clinical and genetic characterization of pituitary gigantism: an international collaborative study in 208 patients. Endocr Relat Cancer 22: 745-757.
• 3 Landis CA, Masters SB, Spada A, Pace AM, Bourne HR, et al. (1898) GTPase inhibiting mutations activate the alpha chain of Gs and stimulate adenylyl cyclase in human pituitary tumours. Nature 340: 692-696.
• 4 Freda PU, Chung WK, Matsuoka N, Walsh JE, Kanibir MN, et al. (2007) Analysis of GNAS mutations in 60 growth hormone secreting pituitary tumors: correlation with clinical and pathological characteristics and surgical outcome based on highly sensitive GH and IGF-I criteria for remission. Pituitary 10: 275-282.
• 5 Creo AL, Lteif AN (2016) Pituitary gigantism: a retrospective case series. J Pediatr Endocrinol Metab 29: 597-607.

Terms in the title (9)： 変異 ,  GH ,  PRL ,  分泌 ,  下垂体 ,  腺腫 ,  小児 ,  症例報告 ,  レビュー