Pituitary gigantism

A rare endocrine disease characterized by unusually tall stature (with rapid growth velocity), occurring before closure of the epiphyseal growth plates, due to excessive growth hormone (GH) caused by a GH-secreting pituitary tumor or from pituitary hyperplasia. Additional associated features may include pubertal delay, visual defects, headache, excessive appetite, hyperhidrosis and menstrual irregularity, as well as variable manifestations characteristic of acromegaly, such as prognathism, coarse facial features and large hands/feet in adolescents.

患者の徴候・症状を入力

症例報告を絞り込む

合計: 22 （症例報告）

（表示件数）

対応する徴候・症状遺伝子変異キーワード（MeSH）

順位（類似度）	PMID (PMCID)
1 (59.0%)	23565401 (3603049)	Pituitary gigantism: a case report. Bhattacharjee R, Roy A, Goswami S, Selvan C, Chakraborty PP, Ghosh S, Biswas D, Dasgupta R, Mukhopadhyay S, Chowdhury S. Indian J Endocrinol Metab. 2012;16(Suppl 2):S285-7. [ 抄録を表示 ] [ 抄録を非表示 ]
		大きな手前頭突出, 額突出
		IGF1 PTH


2 (40.2%)	25192779	Skull deformations in craniosynostosis and endocrine disorders: morphological and tomographic analysis of the skull from the crypt of the Silesian Piasts in Brzeg (16th-17th century), Poland. Kozlowski T, Cybulska M, Blaszczyk B, Krajewska M, Jesman C. Homo. 2014;65(5):400-22. [ 抄録を表示 ] [ 抄録を非表示 ]
		短頭狭い顔


		History, 16th Century History, 17th Century X線コンピュータ断層撮影アーノルド・キアリ奇形ヒト下垂体腫瘍先端巨大症成人水頭症男腺腫頭蓋縫合早期癒合症
3 (23.3%)	25776010	A probable case of gigantism/acromegaly in skeletal remains from the Jewish necropolis of "Ronda Sur" (Lucena, Cordoba, Spain; VIII-XII centuries CE). Viciano J, De Luca S, Lopez-Lazaro S, Botella D, Dieguez-Ramirez JP. Anthropol Anz. 2015;72(1):67-87. [ 抄録を表示 ] [ 抄録を非表示 ]
		肋骨肥厚


		Anthropology, Physical History, Medieval Judaism Spain ヒト先端巨大症巨人症成人若年成人
4 (4.0%)	29328563	Coexisting diseases modifying each other’s presentation - lack of growth failure in Turner syndrome due to the associated pituitary gigantism. Dragovic T, uran Z, Jelic S, Marinkovic D, Kikovic S, Kuzmic-Jankovic S, Hajdukovic Z. Vojnosanit Pregl. 2016;73(10):961-6. [ 抄録を表示 ] [ 抄録を非表示 ]
		性腺機能低下症
		GH1

		インスリン様増殖因子I ターナー症候群ヒトヒト成長ホルモンモザイク現象女巨人症思春期遅発症成長ホルモン産生下垂体腺腫無月経生物学的マーカー磁気共鳴画像法腺腫身長青年発達
4 (4.0%)	26671997	GHRH excess and blockade in X-LAG syndrome. Daly AF, Lysy PA, Desfilles C, Rostomyan L, Mohamed A, Caberg JH, Raverot V, Castermans E, Marbaix E, Maiter D, Brunelle C, Trivellin G, Stratakis CA, Bours V, Raftopoulos C, Beauloye V, Barlier A, Beckers A. Endocr Relat Cancer. 2016;23(3):161-70. [ 抄録を表示 ] [ 抄録を非表示 ]
		過成長
		GHRH GHRHR GHSR GPR101

		X連鎖遺伝病ヒト下垂体腫瘍培養腫瘍細胞女子供（未就学）巨人症成長ホルモン成長ホルモン放出ホルモン抗腫瘍性ホルモン薬症候群
4 (4.0%)	23729615	Pituitary gigantism presenting with depressive mood disorder and diabetic ketoacidosis in an Asian adolescent. Kuo SF, Chuang WY, Ng S, Chen CH, Chang CN, Chou CH, Weng WC, Yeh CH, Lin JD. J Pediatr Endocrinol Metab. 2013;26(9-10):945-8. [ 抄録を表示 ] [ 抄録を非表示 ]
		糖尿病


		Taiwan ヒト巨人症成長ホルモン産生下垂体腺腫抗腫瘍性ホルモン薬放射線外科男糖尿病性ケトアシドーシス腺腫血糖降下薬鑑別診断集学的療法青年発達
4 (4.0%)	23444479	Spontaneous resolution of pituitary apoplexy in a giant boy under 10 years old. Chentli F, Bey A, Belhimer F, Azzoug S. J Pediatr Endocrinol Metab. 2012;25(11-12):1177-9. [ 抄録を表示 ] [ 抄録を非表示 ]
		複視
		GH1

		ヒト下垂体卒中下垂体腫瘍好酸性細胞腺腫子供巨人症男磁気共鳴画像法脳下垂体自然腫瘍退行
4 (4.0%)	20190543	Eight-year follow-up of a child with a GH/prolactin-secreting adenoma: efficacy of pegvisomant therapy. Bergamaschi S, Ronchi CL, Giavoli C, Ferrante E, Verrua E, Ferrari DI, Lania A, Rusconi R, Spada A, Beck-Peccoz P. Horm Res Paediatr. 2010;73(1):74-9. [ 抄録を表示 ] [ 抄録を非表示 ]
		高身長
		GH1 IGF1 PRL

		ヒトヒト成長ホルモンプロラクチン産生腺腫ホルモン拮抗薬下垂体腫瘍女子供（未就学）巨人症成長ホルモン産生下垂体腺腫経過観察腺腫
4 (4.0%)	18626098	Excessive growth. Narayanaswamy V, Rettig KR, Bhowmick SK. Clin Pediatr (Phila). 2008;47(7):705-8. [ 抄録を表示 ] [ 抄録を非表示 ]
		高身長


		インスリン様増殖因子I インスリン様増殖因子結合タンパク質3 ヒト女子供（未就学）巨人症成長ホルモン成長ホルモン産生下垂体腺腫磁気共鳴画像法
4 (4.0%)	18445999	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. Tajima T, Tsubaki J, Ishizu K, Jo W, Ishi N, Fujieda K. Endocr J. 2008;55(3):595-9. [ 抄録を表示 ] [ 抄録を非表示 ]
		吐気
		GH1 GNAS IGF1

		エルゴリンヒト巨人症抗悪性腫瘍薬男遅延作用製剤

徴候・症状リスト（Orphanetデータベースから取得）

合計: 20

HPO ID	徴候・症状	頻度
HP:0000098	高身長	Very frequent (99-80%)
HP:0000280	粗な顔貌	Very frequent (99-80%)
HP:0000303	下顎突出	Very frequent (99-80%)
HP:0000845	成長ホルモン過剰症	Very frequent (99-80%)
HP:0000975	多汗	Very frequent (99-80%)
HP:0001176	大きな手	Very frequent (99-80%)
HP:0001639	肥大型心筋症	Very frequent (99-80%)
HP:0001712	左室肥大	Very frequent (99-80%)
HP:0001833	長い足	Very frequent (99-80%)
HP:0002007	前頭突出, 額突出	Very frequent (99-80%)
HP:0005616	骨成熟促進	Very frequent (99-80%)
HP:0005978	II 型糖尿病	Very frequent (99-80%)
HP:0011407	不均衡型高身長	Very frequent (99-80%)
HP:0011760	下垂体成長ホルモン細胞腺腫	Very frequent (99-80%)
HP:0012411	恥毛早発	Very frequent (99-80%)
HP:0030269	Increased serum insulin-like growth factor 1	Very frequent (99-80%)
HP:0000141	無月経	Frequent (79-30%)
HP:0000870	プロラクチン過剰症	Frequent (79-30%)
HP:0006767	下垂体プロラクチン細胞腺腫	Frequent (79-30%)
HP:0100829	乳汁漏出	Occasional (29-5%)

徴候・症状リスト（症例報告から取得）

合計: 9

HPO ID	徴候・症状	症例報告数
HP:0001953	糖尿病性ケトアシドーシス	2
HP:0000252	小頭	1
HP:0000819	糖尿病	1
HP:0001658	心筋梗塞	1
HP:0002315	頭痛	1
HP:0009830	末梢神経ニューロパチー	1
HP:0012199	群発(性)頭痛.	1
HP:0030799	Scaphocephaly	1
HP:0100829	乳汁漏出	1

疾患原因遺伝子リスト（Orphanetデータベースから取得）

合計: 0

Gene Symbol	遺伝子名	Entrez Gene ID