診療研究グループ紹介

内分泌・糖尿病グループ

内分泌・糖尿病グループは、棚橋祐典(講師)をチーフに、鈴木 滋(助教)、古谷曜子(医員)の3名で構成されております。当グループでは、日本における小児内分泌学領域の創始者の一人である奥野晃正名誉教授、また日本小児内分泌学会理事長として日本のみならず世界をリードしてこられた故藤枝憲二教授が築かれた伝統の下で、小児内分泌疾患の分子機構の解明、特に成長障害、性分化・性成熟異常、副腎疾患、甲状腺疾患、糖尿病・肥満などの病因・病態解析を主テーマとして研究を行っております。

診療面では、低身長、性分化異常症、思春期発来異常、副腎疾患、甲状腺疾患、糖尿病、肥満などの各種内分泌疾患や遺伝性疾患の診療を行っております。大学病院での診療のほか、道北・道東の関連病院での小児内分泌専門外来とも相互に協力して診療を行っております。また、新生児マススクリーニング;内分泌疾患の北海道におけるセンターとしても機能しております。

スタッフ

氏名 役職 専門医/資格
棚橋 祐典 講師 日本小児科学会専門医/指導医
鈴木 滋 助教 日本小児科学会専門医/指導医
日本内分泌学会内分泌代謝専門医/指導医
日本糖尿病学会専門医/指導医
古谷 曜子 医員 日本小児科学会専門医/指導医

研究テーマ

先天性副腎過形成・低形成症の分子遺伝学的診断と病態解明
性分化異常症の分子遺伝学的診断と病態解明
性成熟異常症・性腺機能低下症の分子遺伝学的診断と病態解明
先天性甲状腺機能低下症の分子病因の基盤
成長障害の分子遺伝学的診断と病態解明
新生児糖尿病の分子基盤

取得した専門医研修施設

日本内分泌学会内分泌代謝科認定教育施設
日本糖尿病学会認定教育施設
日本人類遺伝学会・日本遺伝カウンセリング学会認定臨床遺伝専門医制度研修施設

業績

─著書─

  • Fujieda K, Nakae J, Abe S, Tajima T: DAX-1 mutations in adrenal hypoplasia congenita. Molecular Steroidogenesis, Okamoto M, Ishimura Y, and Nawata H eds, Universal Academy Press, pp341-344, 2000
  • Mukai T, Shikayama K, Oka S, Fujieda K, Morohashi K: Expression of Dax-1 in the adrenal gland. Molecular Steroidogenesis, Okamoto M, Ishimura Y, and Nawata H eds, Universal Academy Press, pp223-224, 2000
  • Morohashi K, Mukai T, Mizusaki H, Kawabe K: Transcription factors impricated in the gonadal and adrenocortical development. Molecular Steroidogenesis, Okamoto M, Ishimura Y, and Nawata H eds, Universal Academy Press, pp191-194, 2000
  • Tanaka T, Takano K, Ogawa M, Tachibana K, Fujieda K, Hizuka N: Final height in Turner syndrome after growth hormone treatment; Japanese study. Optimizing Health Care for Turner Patients in the 21st Century, Saenger P and Pasquino AM eds, Elsevier Science BV, pp223-228, 2000
  • Ranke MB, Keizer-Scharma de Muinck SMPF, Fujieda K: Management of girl with Turner syndrome. SCIENS Worldwide Medical Education Network, pp1-24, 2003
  • Fujieda K, Nakae J, Mukai T: 3β-hydroxysteroid dehydrogenase deficiency. Encyclopedia of Endocrine Disease, Martini L eds, Academic Press Vol 2, pp498-503, 2004
  • Fujieda K, Tanaka T:Diagnosis of children with short stature: Insights from KIGS. Ranke MB, Price DA, Reiter EO, eds. Growth hormone therapy in pediatrics, Karger, pp16-22, 2007

─原著─

  • Mitamura R, Yano K, Suzuki N, Ito Y, Okuno A: Diurnal rhythms of luteinizing hormone, follicle-stimulating hormone, testosterone, and estradiol secretion before the onset of female puberty in short children. J Clin Endocrinol Matab. 85:1074-1080, 2000
  • Okuhara K, Tajima T, Abe S, Satoh K, Nakae J, Shinohara N, Fujieda K: Gonadotropin-releasing hormone analog therapy failure to improve predicted final height in two children with central precocious puberty and microcephalus. Endocrine J. 47(Suppl):S129-S132, 2000
  • Okuhara K, Tajima T, Nakae J, Fujieda K: A novel missense mutation in the HMG box region of the SRY gene in a Japanese patient with a XY sex reversal. J Hum Genet. 45:112-114, 2000
  • Tanaka T, Matsuo N, Seino Y, Fujieda K, Yokoya S, Tachibana K, the Study Group of GH Treatment in IUGR: Growth-promoting and psychological effects of high-dose growth hormone treatment in children with intrauterine growth retardation. Clin Pediatr Endocrinol. 9:7-17, 2000
  • Hizukuri K, Ono S, Masuda R, Mizota K, Nikaido K, Otsubo K, Eto S, Tamada I, Fukami S, Fujieda K: A false negative case with 21-hydroxylase deficiency at newborn mass screening program-Case report and review of the mass screening program in Kagoshima Prefecture-. Clin Pediatr Endocrinol. 9:25-30, 2000
  • Sato K, Tajima T, Nakae J, Adachi M, Asakura Y, Tachibana K, Suwa S, Katsumata N, Tanaka T, Hayashi Y, Abe S, Murashima M, Okuhara K, Shinohara N, Fujieda K: Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets. Pediatr Res. 48:536-540, 2000
  • Endo M, Yasoshima K, Ishizaki S, Ishizaka S, Nawate M, Matsuzaki T, Shinohara N, Fujieda K: Development of central precocious puberty after surgical resection in a boy with craniopharyngioma: Case report. Clin Pediatr Endocrinol. 9:63-67, 2000
  • Tajima T, Kitagawa H, Yokoya S, Tachibana K, Adachi M, Nakae J, Suwa S, Katoh S, Fujieda K: A novel missense mutation of mineralocorticoid receptor gene in one Japanese family with a renal form of pseudohypoaldosteronism type I. J Clin Endocrinol Metab. 85:4690-4694, 2000
  • Sato N, Ishikawa M, Nimura A, Katsumata N, Horikawa R, Tanae A, Tanaka T, Matsuo N, Seino Y, Fujieda K, Yokoya S, Tachibana K, Shimizu N, Study Group of GH Treatment in IUGR: Growth hormone (GH) binding protein in children with high dose GH. Clin Pediatr Endocrinol. 9(Suppl 14): 55-61, 2000
  • Sato K, Tajima T, Nakae J, Abe S, Okuhara K, Fujieda K: Evaluation of bone mineral density in patients with Turner syndrome. Clin Pediatr Endocrinol. 9(Suppl 14): 55-61, 2000
  • GH Research Society (Fujieda K, et al): Consensus guidelines for the diagnosis and treatment of growth hormone (GH) deficiency in childhood and adolescence: Summary statement of the GH Research Society. J Clin Endorionol Metab. 85:3990-3993, 2000
  • Adachi M, Tachibana K, Asakura Y, Abe S, Nakae J, Tajima T, Fujieda K: Compound heterozygous mutations in the γsubunit gene of ENaC (1627 delG and 1570-1G->A) in one sporadic Japanese patient with a systemic form of pseudohypoaldosteronism type 1. J Clin Endocrinol Metab. 86:9-12, 2001
  • Ishikawa Y, Tajima T, Nakae J, Nagashima T, Satoh K, Okuhara K, Fujieda K: Two mutations of Gs gene in two sporadic Japanese patients with pseudohypoparathyroidism type Ia. J Hum Genet. 46:426-430, 2001
  • Tajima T, Fujieda K, Kouda N, Nakae J, Miller WL: Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46, XY sex reversal and adrenal insufficiency. J Clin Endcrionol Metab. 86:3820-3825, 2001
  • Lebl J, Fujieda K, Kalvachova B, Votava F: A boy with adrenal insufficiency and DAX-1 gene defect. Diabetologie Metabolismus Endokrinologie Vyziva 4,2:136-139, 2001
  • Sugawara T, Abe S, Sakuragi N, Fujimoto Y, Nomura E, Fujieda K, Saito M, Fujimoto S: RIP140 modulates transcription of the steroidogenic acute regulatory protein gene through interactions with both SF-1 and DAX-1. Endocrinology 142:3570-3577, 2001
  • Tajima T, Oishi M, Nakae J, Satoh K, Okuhara K, Kanaya Y, Fujieda K: Turner syndrome and Crohn disease. Clin Pediatr Endocrinol. 10:137-140, 2001
  • Kawamura M, Owada M, Kimura Y, Fujiwara T, Sasaki A, Tajima T, Fujieda K, Hiramori K: 46,XY pure gonadal dysgenesis: A case with Graves' disease and exceptionally tall stature. Internal Medicine 40:740-743, 2001
  • Ikeda Y, Takeda Y, Shikayama T, Mukai T, Hisano S, Morohashi KI: Comparative localization of Dax-1 and Ad4BP/SF-1 during development of the hypothalamic-pituitary-gonadal axis suggests their closely related and distinct functions. Dev Dyn. 220:363-76, 2001
  • Shibata H, Ikeda Y, Mukai T, Morohashi Ki, Kurihara I, Ando T, Suzuki T, Kobayashi S, Murai M, Saito I, Saruta T: Expression profiles of coup-tf, dax-1, and sf-1 in the human adrenal gland and adrenocortical tumors: possible implications in steroidogenesis. Mol Genet Metab. 74:206-16, 2001
  • Veldhuis JD, Pincus SM, Mitamura R, Yano K, Suzuki N, Ito Y, Makita Y, Okuno A: Developmentally delimited emergence of more orderly luteinizing hormone and testosterone secretion during late prepuberty in boys. J Clin Endocrinol Metab. 86:80-89, 2001
  • Muroya K, Hasegawa T, Ito Y, Nagai T, Isotani H, Iwata Y, Yamamoto K, Fujimoto S, Seishu S, Fukushima Y, Hasegawa Y, Ogata T: GATA3 abnormalities and the phenotypic spectrum of HDR syndrome. J Med Genet. 38:374-380, 2001
  • Matsuura N, Yokota Y, Kazahari K, Sasaki N, Amemiya S, Ito Y, Fukushima N, Koike A, Igarashi Y, Hirano T, Sugihara S, Miki Y, Urakami T, Uchigata Y, Kanematsu S, Ohki Y, Takesue M, Hasegawa Y, Miyamoto S, Fujimoto M, Fujitsuka S, Mori T, Ogawa H, Uchiyama M, Onigata K, Tachibana K, Kikuchi N, Taketani T, Kohno H, Kasahara Y, Isshiki G, Tokuda M, Takahashi T, Kanzaki S, Yokota I, Kida K, Okada T, Nishiyama S, Masuda H, Kinugasa A, Nukada O: The Japanese Study Group of Insulin Therapy for Childhood and Adolescent Diabetes (JSGIT): initial aims and impact of the family history of type 1 diabetes mellitus in Japanese children. Pediatric Diabetes 2:160-169, 2001
  • Nakae J, Kitamura T, Ogawa W, Kasuga M, Accili D: Insulin regulation of gene expression through the forkhead transcription factor Foxo1 (Fkhr) requires kinases distinct from Akt. Biochemistry 40:11768-76, 2001
  • Nakae J, Kitamura T, Silver DL, Accili D: The forkhead transcription factor Foxo1 (Fkhr) confers insulin sensitivity onto glucose-6-phosphatase. J Clin Invest. 108:1359-1367, 2001
  • Aoyama H, Shirato H, Ikeda J, Fujieda K, Miyasaka K, Sawamura Y: Induction chemotherapy followed by low-dose involved-field radiotherapy for intracranial germ cell tumors. J Clin Oncology 20:857-865, 2002
  • Tajima T, Kobayashi Y, Abe S, Takahashi M, Konno M, Nakae J, Okuhara K, Satoh K, Ishikawa T, Imai T, Fujieda K: Two novel mutations of thiazide-sensitive Na-Cl cotransporter (TSC) gene in two sporadic Japanese patients with Gitelman syndrome. Endocrine J. 49:91-96, 2002
  • Sato K, Hasegawa Y, Nakae J, Nanao K, Takahashi I, Tajima T, Shinohara N, Fujieda K: Hydrochlorothiazide effectively reduces urinary calcium excretion in two Japanese patients with gain-of-function mutations of the calcium-sensing receptor gene. J Clin Endocrinol Metab. 87:3068-3073, 2002
  • Nonomura K, Kakizaki H, Fukuzawa N, Fujieda K, Niikawa N, Koyanagi T: Monozygotic twins with discordant sexual phenotypes due to different ratios of mosaicism of 47,X, idic (Y), idic (Y)/46,X, idic(Y)/45,X. Endocrine J. 49:497-501, 2002
  • Mukai T, Kusaka M, Kawabe K, Goto K, Nawata H, Fujieda K, Morohashi K: Sexually dimorphic expression of Dax-1 in the adrenal gland. Genes to Cells 7: 717-729, 2002
  • Nakae J, Biggs III WH, Kitamura T, Wright CVE, Arden KC, Accili D: Regulation of hepatic insulin action and pancreatic β-cell function by mutant alleles of the forkhead transcription factor Foxo1. Nat Genet. 32:245-253, 2002
  • Tajima T, Hattori T, Nakajima T, Okuhara K, Sato K, Abe S, Nakae J, Fujieda K: Sporadic heterozygous frameshift mutation of HESX1 causing pituitary and optic nerve hypoplasia and combined pituitary hormone deficiency in a Japanese patient. J Clin Endocrinol Metab. 88:45-50, 2003
  • Kawajiri K, Ikuta T, Suzuki T, Kusaka M, Muramatsu M, Fujieda K, Tachibana M, Morohashi K: Role of the LXXLL-motif and AF2 domain in subcellular localization of Dax-1. Mol Endocrinol. 17:994-1004, 2003
  • Tajima T, Okuhara K, Satoh K, Nakae J, Fujieda K: Two novel aquaporin-2 mutations in a sporadic Japanese patient with autosomal recessive nephrogenic diabetes insipidus. Endocrine J. 50:473-476, 2003
  • Ogawa E, Fujieda K, Tachibana K, Inomata H, Kinoshita E, Kusuda S, Nishi M, Okada T, Saisho S, Tajima T, Tanaka T: Mortality in patients with congenital 21-hydroxylase deficiency diagnosed after the introduction of a newborn screening program in Japan. Clin Pediatr Endocrinol. 12:19-23, 2003
  • Takezaki T, Nakai S, Tajima T, Okuhara K, Satoh K, Iwasaki Y, Fujieda K: A case of achondroplasia associated with cervicomedullary-junction compression. Clin Pediatr Endocrinol. 12:39-42, 2003
  • Tajima T, Sasaki S, Tanaka Y, Kusunoki H, Nagashima T, Nonomura K, Fujieda K: 46, XY phenotypic male with focal segmental glomeruloscrerosis caused by the WT1 splice site mutation. Horm Res. 60:302-305, 2003
  • Ueda O, Fujine M, Mukai T, Ito Y, Fujieda K: A male patient with severe growth retardation, immunodeficiency and diabetes mellitus: a new syndrome? Clin Pediatr Endocrinol. 12(Suppl 20): 47-49, 2003
  • Tajima T, Nakae J, Fujieda K: Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC. Pediatr Nephrol. 18:1280-1282, 2003
  • Mizusaki H, Kawabe K, Mukai T, Ariyoshi E, Kasahara M, Yoshioka H, Swain A, and Morohashi K: Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1) gene transcription is regulated by Wnt4 in the female developing gonad. Mol Endocrinol. 17: 507-519, 2003
  • Zimmermann MB, Hess SY, Moloanari L, de Benoist B, Delange F, Braveman L, Fujieda K, Ito Y, Jooste PL, Moosa K, Pearce E, Pretell EA, Shishiba Y: New reference values for thyroid volume by ultrasound in iodine-sufficient schoolchildren: a World Health Organization/Nutrition for health and development iodine deficiency study group report. Am J Clin Nutr. 79:231-237, 2004
  • Fluck C, Tajima T, Pandey AV, Arlt W, Okuhara K, Verge CF, Jabs EW, Mendoca BB, Fujieda K, Miller WL: Mutant P450-oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nature Genet. 36:228-230, 2004
  • Komatsu T, Mizusaki H, Mukai T, Ogawa H, Baba D, Shirakawa M, Hatakeyama S, Nakayama KI, Yamamoto H, Kikuchi A, Morohashi K: SUMO-1 modification of the synergy control motif of Ad4BP/SF-1 regulates synergistic transcription between Ad4BP/SF-1 and Sox9. Mol Endocrinol. 18: 2451-2462, 2004
  • Shirato H, Aoyama H, Ikeda J, Fujieda K, Kato N, Ishi N, Miyasaka K, Iwasaki Y, Sawamura Y: Impact of margin for target volume in low-dose involved field radiotherapy after induction chemotherapy for intracranial germinoma. Int J Radiat Oncol Biol Phys. 60:214-217, 2004
  • Tanaka T, Niimi H, Matsuo N, Fujieda K, Tachibana K, Ohyama K, Satoh M, Kugu K: Results of long-term follow-up after treatment of central precocious puberty with leuprorelin acetate: Evaluation of effectiveness of treatment and recovery of gonadal function. J Clin Endocrinol Metab. 90:1371-1376, 2005
  • Hanew K, Tachibana K, Yokoya S, Fujieda K, Tanaka T, Igarashi Y, Shimatsu A, Tanaka H, Tanizawa T, Teramoto A, Nishi Y, Hasegawa Y, Hizuka N, Hirano T, Fujita K: Studies of very severe short stature with severe GH deficiency: From the data registered with the Foundation for Growth Science. Endocrine J. 52:37-43, 2005
  • Zimmermann MB, Ito Y, Hess SY, Fujieda K, Molinari L: High thyroid volume in children with high dietary iodine intake. Am J Clin Nutr. 81:840-844, 2005
  • Tajima T, Satoh K, Okuhara K, Tsubaki J, Fujieda K: Hypomagnesemia in a patient with Barth syndrome. J Pediatr Endocrinol Metab. 18:523, 2005
  • Tajima T, Tsubaki J, Fujieda K: Two novel mutations in the thyroid peroxidase gene with goitrous hypothyroidism. Endocr J. 52:643-645, 2005
  • Tanaka T, Tachibana K, Shimatsu A, Katsumata N, Tsushima T, Hizuka N, Fujieda K, Yokoya S, Irie M: A nationwide attempt to standardize growth hormone assays. Horm Res. 64(Supple2):6-11, 2005
  • Matsuyama M, Mizusaki H, Shimono A, Mukai T, Okumura K, Abe K, Shimada K, Morohashi K: A novel isoform of Vinexin, Vinexin γ, regulates Sox9 gene expression through activation of MAPK cascade in mouse fetal gonad. Genes to Cells 18:421-434, 2005
  • Franzese A, Brunetti-Pierri N, Spadaro R, Mukai T, Valerio G: Inappropriate tall stature and renal ectopy in a male patient with X-linked congenital adrenal hypoplasia due to a novel missense mutation in the DAX-1 gene. Am J Med Genet. 135A:72-74, 2005
  • Wakida N, Do Gia Tuyen, Adachi M, Miyoshi T, Nonoguchi H, Oka T, Ueda O, Tazawa M, Kurihara S, Yoneta Y, Shimada H, Oda T, Kikushi Y, Matsuo H, Hosoyamada M, Endou H, Otagiri M, Tomita K, Kitamura K: Mutations in human urate transporter 1 gene in presecretory reabsorption defect type of familial renal hypouricemia. J Clin Endocrinol Metab. 90:2169-2174, 2005
  • Suzuki S, Mukai T, Uetake K, Sageshima S, Matsuo K, Ueda O, Ito Y, Fujieda K: Permanent neonatal diabetes mellitus with growth disturbance, developmental delay, epilepsy and dysmorphic features. Clin Pediatr Endocrinol. 14(suppl 24):81-84, 2005
  • Savage MO, Cassorla FG, Gluckman PD, Grueters-Kieslich A, Raghupathy P, Silink M, Czernichow P, Chiarelli F, Rogol AD, Crock PA, Cowell CT, Fujieda K, Arnhold IJ; International Societies for Paediatric Endocrinology. Global inequalities in paediatric endocrine practice: statement of minimal acceptable care. Statement from the international societies for paediatric endocrinology. Horm Res. 65(3):111-113, 2006
  • Kagami-Takasugi M, Katsumata N, Tanaka T, Tajima T, Fujieda K: Molecular genetic analysis of MODY candidate genes in Japanese patients with non-obese juvenile onset diabetes mellitus. J Pediatr Endocrinol Metab. 19(2):143-8, 2006
  • Tanaka T, Fujieda K, Yokoya S, Shimatsu A, Tachibana K, Tanaka H, Tanizawa T, Teramoto A, Nagai T, Nishi Y, Hasegawa Y, Hanew K, Fujita K, Horikawa R, Takada G, Hasegawa Y, Ohno T, Komatsu K:No improvement of adult height in non-growth hormone (GH) deficient short children with GH treatment. Clin Pediatr Endocrinol 15:15-21, 2006
  • Saito T, Tachibana K, Shimazu A, Katsumata N, Hizuka N, Fujieda K, Yokoya S, Tanaka T:Standardization of blood growth hormone levels measured by different kits using linear structural relationship. Clin Pediatr Endocrinol, 15:79-84, 2006
  • Hanew K, Tachibana K, Yokoya S, Fujieda K, Tanaka T, Igarashi Y, Shimatsu A, Tanaka H, Tanizawa T, Teramoto A, Nishi Y, Hasegawa Y, Hizuka N, Hirano T, Fujita K: Clinical characteristics, etiologies and pathophysiology of patients with severe short stature with severe GH deficiency: questionnaire study on the data registered with the foundation for growth science, Japan. Endocr J. 53(2):259-265, 2006
  • Tajima T, Nawate M, Takahashi Y, Mizoguchi Y, Sugihara S, Yoshimoto M, Murakami M, Adachi M, Tachibana K, Mochizuki H, Fujieda K: Molecular analysis of the CLCNKB gene in Japanese patients with classic Bartter syndrome. Endocr J. 53(5):647-52, 2006
  • Ito Y, Fujieda K, Tanaka T, Takano K, Chihara K, Seino Y, Irie M; KIGS (Pfizer International Growth Study) Japan Scientific Committee: Low-dose growth hormone treatment (0.175 mg/kg/week) for short stature in patients with Turner Syndrome: data from KIGS Japan. Endocr J. 53(5):699-703, 2006
  • Hughes IA, Houk C, Ahmed SF, Lee PA, LWPES/ESPE Consensus Group (Fujieda K, et al): Consensus statement on management of intersex disorders. Arch Dis Child. 91:554-563, 2006
  • Tajima T, Hattori T, Nakajima T, Okuhara K, Tsubaki J, Fujieda K: A novel missense mutation (P366T) of the LHX4 gene causes severe combined pituitary hormone deficiency with pituitary hypoplasia, ectopic posterior lobe and a poorly developed sella turcica. Endocr J. 54(4):637-641, 2007
  • Suzuki S, Makita Y, Mukai T, Matsuo K, Ueda O, Fujieda K: Molecular basis of neonatal diabetes in Japanese patients. J Clin Endocrinol Metab. 92(10):3979-3985, 2007
  • Adachi M, Asakura Y, Sato Y, Tajima T, Nakajima T, Yamamoto T, Fujieda K: Novel SLC12A1 (NKCC2) Mutations in Two Families with Bartter Syndrome Type 1. Endocr J. . 54(6):1003-1007, 2007
  • Tajima T, Fujiwara F, Sudo A, Saito S, Fujieda K: A Japanese patient of congenital hypothyroidism with cerebellar atrophy. Endocr J. 54(6):941-944, 2007
  • Okuhara K, Abe S, Kondo T, Fujita K, Koda N, Mochizuki H, Fujieda K, Tajima T: Four Japanese patients with adrenal hypoplasia congenita and hypogonadotropic hypogonadism caused by DAX-1 gene mutations: mutant DAX-1 failed to repress steroidogenic acute regulatory protein (StAR) and luteinizing hormone beta-subunit gene promoter activity. Endocr J. 55(1):97-103, 2008
  • Tajima T, Tsubaki J, Ishizu K, Jo W, Ishi N, Fujieda K: Case Study of a 15-Year-old Boy with McCune-Albright Syndrome Combined with Pituitary Gigantism: Effect of Octreotide-long Acting Release (LAR) and Cabergoline Therapy. Endocr J. 2008
  • Tajima T, Ohtake A, Hoshino M, Amemiya S, Sasaki N, Ishizu K, Fujieda K: OTX2 loss of function mutation causes anophthalmia and combined pituitary hormone deficiency with a small anterior and ectopic posterior pituitary. J Clin Endocrinol Metab. 94(1):314-319, 2009
  • Al-Haggar M, Bakr A, Tajima T, Fujieda K, Hammad A, Soliman O, Darwish A, Al-Said A, Yahia S, Abdel-Hady D: Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: unusual clinical associations and novel claudin16 mutation in an Egyptian family. Clin Exp Nephrol. 13(4):288-294, 2009
  • Fukami M, Nishimura G, Homma K, Nagai T, Hanaki K, Uematsu A, Ishii T, Numakura C, Sawada H, Nakacho M, Kowase T, Motomura K, Haruna H, Nakamura M, Ohishi A, Adachi M, Tajima T, Hasegawa Y, Hasegawa T, Horikawa R, Fujieda K, Ogata T: Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients. J Clin Endocrinol Metab. 94(5):1723-1731,2009.
  • Tajima T, Fujiwara F, Fujieda K: A novel heterozygous mutation of steroidogenic factor-1 (SF-1/Ad4BP) gene (NR5A1) in a 46, XY disorders of sex development (DSD) patient without adrenal failure. Endocr J. 56(4):619-624, 2009.
  • Nagaya K, Makita Y, Taketazu G, Okamoto T, Nakamura E, Hayashi T, Fujieda K. Paternal allele of IGF2 gene haplotype CTG is associated with fetal and placental growth in Japanese. Pediatr Res. 66(2):135-139, 2009
  • Tajima T, Jo W, Fujikura K, Fukushi M, Fujieda K: Elevated free thyroxine levels detected by a neonatal screening system. Pediatr Res. 66(3):312-316, 2009
  • Matsuo K, Mukai T, Suzuki S, Fujieda K: Prevalence and risk factors of vitamin D deficiency rickets in Hokkaido, Japan. Pediatr Int. 51(4):559-562, 2009
  • Maimaiti M, Takahashi S, Okajima K, Suzuki N, Ohinata J, Araki A, Tanaka H, Mukai T, Fujieda K: Silent exonic mutation in the acid-alpha-glycosidase gene that causes glycogen storage disease type II by affecting mRNA splicing. J Hum Genet. 54(8):493-496, 2009
  • Low HP, Greco B, Tanahashi Y, Gallant J, Jones SN, Billings-Gagliardi S, Recht LD, Schwartz WJ: Embryonic stem cell rescue of tremor and ataxia in myelin-deficient shiverer mice. J Neurol Sci. 276(1-2):133-137, 2009

─総説─

  • Kido Y, Nakae J, Accili D: Clinical review 125: The insulin receptor and its cellular targets. J Clin Endocrinol Metab. 86:972-9, 2001
  • Nakae J, Kido Y, Accili D: Tissue-specific insulin resistance in type 2 diabetes: lessons from gene-targeted mice. Ann Med. 33:22-7, 2001
  • Nakae J, Kido Y, Accili D: Distinct and overlapping functions of insulin and IGF-I receptors. Endocr Rev. 22:818-835, 2001
  • Accili D, Kido Y, Nakae J, Lauro D, Park BC: Genetics of type 2 diabetes: insight from targeted mouse mutants. Curr Mol Med. 1:9-23, 2001
  • Joint LWPES/ESPE CAH Working Group (Fujieda K, et al): Consensus statement on 21hydroxylase deficiency from the Lawson Wilkins Pediatric Endocrine Society and the European Society for Paediatric Endocrinology. J Clin Endocrinol Metab. 87:4048-4053, 2002
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旭川医科大学小児科学教室

〒078-8510 北海道旭川市緑が丘東2条1丁目1の1
TEL:0166-68-2481/2483(DI) FAX:0166-68-2489

Department of Pediatrics, Asahikawa Medical University

Midorigaoka-higashi 2-1-1-1, Asahikawa, Hokkaido 078-8510, Japan
TEL:+81-166-68-2481/2483 FAX:+81-166-68-2489

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