Art

J-GLOBAL ID：200902109958963843   Reference number：02A0203708

A Case of Growth Hormone and Gonadotropin Deficiency Associated with Unilateral Anophthalmia, Microphallus, Cryptorchidism, and Mental Retardation.

一側性無眼球症,小陰茎症,こう丸停滞症および精神薄弱に関連した成長ホルモンおよびゴナドトロピン欠乏症の症例

Author (6)： MIYAKO K (Fukuoka Children’s Hospital, Fukuoka, JPN) ,  TAKEMOTO M (Fukuoka Children’s Hospital, Fukuoka, JPN) ,  IHARA K (Kyushu Univ., Fukuoka, JPN) ,  KUROMARU R (Kyushu Univ., Fukuoka, JPN) ,  KOHNO H (Fukuoka Children’s Hospital, Fukuoka, JPN) ,  HARA T (Kyushu Univ., Fukuoka, JPN)
Material： Endocrine Journal  (Endocr J)
Volume： 49  Issue： 1  Page： 15-20  Publication year： Jan. 2002 
JST Material Number： F0625A  ISSN： 0918-8959  Document type： Article
Article type： 原著論文  Country of issue： Japan (JPN)  Language： ENGLISH (EN)

Thesaurus term： *case report ,...
Semi thesaurus term： testicular disease ,...

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JST classification (3)： Congenital diseases,deformities in general.  (GD03010V) ,  Endocrine diseases  (GL03000I) ,  Hormones,cytokines,bioactive peptides in general  (EB08010W)

Reference (26)：

• 1. Parks JS, Brown MR, Hurley DL, Phelps CJ, Wajnrajch MP (1999) Heritable disorders of pituitary development. J Clin Endocrinol Metab 84: 4362-4370.
• 2. Tatsumi K, Miyai K, Notomi T, Kaibe K, Amino N, Mizuno Y, Kohno H (1992) Cretinism with combined hormone deficiency caused by a mutation in the PIT1 gene. Nat Genet 1: 56-58.
• 3. Wu W, Cogan JD, Pfaffle RW, Dasen JS, Frisch H, O'Connell SM, Flynn SE, Brown MR, Mullis PE, Parks JS, Phillips JA III, Rosenfeld MG (1998) Mutations in PROP1 cause familial combined pituitary hormone deficiency. Nat Genet 18: 147-149.
• 4. Dattani MT, Martinez-Barbera JP, Thomas PQ, Brickman JM, Gupta R, Martensson IL, Toresson H, Fox M, Wales JK, Hindmarsh PC, Krauss S, Beddington RS, Robinson IC (1998) Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse. Nat Genet 19: 125-133.
• 5. Netchine I, Sobrier M-L, Krude H, Schnabel D, Maghnie M, Marcos E, Duriez B, Cacheux V, Moers AV, Goossens M, Gruters A, Amselem S (2000) Mutations in LHX3 result in a new syndrome revealed by combined pituitary hormone deficiency. Nat Genet 25: 182-186.

Terms in the title (9)： 側性 ,  無眼球症 ,  小陰茎症 ,  こう丸 ,  停滞 ,  精神薄弱 ,  成長ホルモン ,  ゴナドトロピン欠乏症 ,  症例