idiopathic short stature

特発性低身長

WordNet

1. without possessing something at the time it is contractually sold; "he made his fortune by selling short just before the crash"
2. the location on a baseball field where the shortstop is stationed
3. low in stature; not tall; "he was short and stocky"; "short in stature"; "a short smokestack"; "a little man" (同)little
4. lacking foresight or scope; "a short view of the problem"; "shortsighted policies"; "shortsighted critics derided the plan"; "myopic thinking" (同)shortsighted, unforesightful, myopic
5. at a disadvantage; "I was caught short" (同)unawares
6. (primarily spatial sense) having little length or lacking in length; "short skirts"; "short hair"; "the board was a foot short"; "a short toss"
7. at some point or distance before a goal is reached; "he fell short of our expectations"
8. clean across; "the cars axle snapped short"
9. not holding securities or commodities that one sells in expectation of a fall in prices; "a short sale"; "short in cotton"
10. of speech sounds or syllables of relatively short duration; "the English vowel sounds in `pat, `pet, `pit, `pot, putt are short"
11. primarily temporal sense; indicating or being or seeming to be limited in duration; "a short life"; "a short flight"; "a short holiday"; "a short story"; "only a few short months"
12. so as to interrupt; "She took him up short before he could continue"
13. tending to crumble or break into flakes due to a large amount of shortening; "shortbread is a short crumbly cookie"; "a short flaky pie crust"
14. high level of respect gained by impressive development or achievement; "a man of great stature"
15. (of a standing person) the distance from head to foot (同)height
16. (of diseases) arising from an unknown cause; "idiopathic epilepsy"
17. the act of propping up with shores (同)shoring up, propping up

PrepTutorEJDIC

1. (長さ・時間・距離などが)『短い』,近い・(人が)『背が低い』・(数量・期間などが)不足の』,乏しい;目標(標準)に達しない・(文などが)『簡潔な』,手短な・『そっけない』,ぞんぞいな,無愛想な・(ケーキなどが)かりかりする,さくさくする・(母音・音節が)短い;(詩の行の母音が)強勢のない・急に,突然・短いもの;欠けているもの・短篇映画(short movie, short subject) ・=short circuit・《複数形で》不足,欠損 / …‘を'短絡させる,ショートさせる / 短絡する,ショートする
2. 『背』(せい),身長(height) / (身体の,また道徳的・知的な)発達,成長,進歩
3. 特発性疾患の(病気の原因があいまいな,また不明な場合)
4. 半ズボン,ショートパンツ / 《おもに米》(男物下着の)パンツ

Wikipedia preview

出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2017/05/23 20:25:09」(JST)

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[Wiki en表示]

Idiopathic short stature
Classification and external resources
Specialty	endocrinology
ICD-10	E34.3
ICD-9-CM	783.43

Idiopathic short stature (ISS) refers to extreme short stature that does not have a diagnostic explanation (idiopathic designates a condition that is unexplained or not understood) after an ordinary growth evaluation. The term has been in use since at least 1975 without a precise percentile or statistical definition of "extreme".

Definition

In 2003 Eli Lilly and Company offered a more precise definition of ISS when the pharmaceutical company submitted clinical trial data to the U.S. Food and Drug Administration (FDA) requesting approval to advertise their brand of growth hormone for the treatment of ISS. They proposed a definition of a height more than 2.25 standard deviations below mean, roughly equal to the shortest 1.2% of the population.

Other researchers have described a cutoff of 2.0 standard deviations.

Treatment

There is some evidence that hormone treatment may not result in a significant improvement in psychosocial functioning.

It is estimated that it would cost US$100,000 or more to treat someone, but might only move them from the first percentile to perhaps the 10th. An ethical and economic question is would that just transfer the disadvantages to those in what was previously the "2nd" percentile?

The use of insulin-like growth factor 1 or aromatase inhibitors have been proposed as an alternative to growth hormone.

Advantage

Short stature decrease risk of venous insufficiency.

See also

• Growth hormone treatment

References

External links

• Account of the FDA approval of Humatrope for ISS
• Excellent synopsis of GH use for ISS from the Minnesota Dept of Health
• National Organization of Short Statured Adults

UpToDate Contents

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• 1. 特発性低身長に対する成長ホルモン治療 growth hormone treatment for idiopathic short stature
• 2. 低身長の小児や青年への診断的アプローチ diagnostic approach to children and adolescents with short stature
• 3. 低身長の原因 causes of short stature
• 4. 小児における成長ホルモン欠乏症の治療 treatment of growth hormone deficiency in children
• 5. 成長ホルモン不感受性症候群 growth hormone insensitivity syndromes

English Journal

• A non-sense MCM9 mutation in a familial case of primary ovarian insufficiency.

• Fauchereau F1,2, Shalev S3,4, Chervinsky E3,4, Fruchter RB5, Legois B1,2, Fellous M6,7, Caburet S1,2, Veitia RA1,2.
• Clinical genetics.Clin Genet.2016 Jan 14. doi: 10.1111/cge.12736. [Epub ahead of print]
• Primary Ovarian Insufficiency (POI) results in an early loss of ovarian function, and remains idiopathic in about 80% of cases. Here, we have performed a complete genetic study of a consanguineous family with two POI cases. Linkage analysis and homozygosity mapping identified twelve homozygous regio
• PMID 26771056

• Efficacy and safety of growth hormone treatment in children with short stature: the Italian cohort of the GeNeSIS clinical study.

• Cappa M1, Iughetti L2, Loche S3, Maghnie M4, Vottero A5; GeNeSIS National Board on behalf of the GeNeSIS Italian Investigators.
• Journal of endocrinological investigation.J Endocrinol Invest.2015 Dec 28. [Epub ahead of print]
• PURPOSE: We examined auxological changes in growth hormone (GH)-treated children in Italy using data from the Italian cohort of the multinational observational Genetics and Neuroendocrinology of Short Stature International Study (GeNeSIS) of pediatric patients requiring GH treatment.METHODS: We stud
• PMID 26710758

• Duplications upstream and downstream of SHOX identified as novel causes of Leri-Weill dyschondrosteosis or idiopathic short stature.

• Bunyan DJ1, Baffico M2, Capone L3, Vannelli S4, Iughetti L5, Schmitt S6, Taylor EJ1, Herridge AA1, Shears D7, Forabosco A3, Coviello DA2.
• American journal of medical genetics. Part A.Am J Med Genet A.2015 Dec 24. doi: 10.1002/ajmg.a.37524. [Epub ahead of print]
• Leri-Weill dyschondrosteosis is a pseudoautosomal dominantly-inherited skeletal dysplasia ascribed to haploinsufficiency of the SHOX gene caused by deletions, point mutations, or partial duplications of the gene, or to heterozygous deletions upstream or downstream of the intact SHOX gene involving c
• PMID 26698168

Japanese Journal

• 成長ホルモン治療を行った特発性低身長症男性例の二次性徴

• 大山 建司,佐野 友昭,太田 正法 [他],小林 浩司,小林 基章,佐藤 和正,望月 美恵,三井 弓子,矢ケ崎 英晃,斉藤 朋洋,長嶺 健次郎,中込 美子
• 日本小児科学会雑誌 115(10), 1524-1530, 2011-10-01
• NAID 10029836371

• 臨床研究・症例報告 IGF-1 generation testに無反応だが成長ホルモン療法が著効した特発性低身長の1例

• 後藤 正博,田中 敏章,緒方 勤
• 小児科臨床 64(5), 984-989, 2011-05
• NAID 40018758385

• Identification of 15 loci influencing height in a Korean population

• Kim Jae-Jung,Lee Hae-In,Park Taesung [他],KIM Kyunga,LEE Jong-Eun,CHO Nam Han,SHIN Chol,CHO Yoon Shin,LEE Jong-Young,HAN Bok-Ghee,YOO Han-Wook,LEE Jong-Keuk
• Journal of human genetics 55(1), 27-31, 2010-01-01
• NAID 10030733154

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★リンクテーブル★

リンク元	「特発性小人症」「ISS」「特発性低身長」
関連記事	「short」「idiopathic」

「特発性小人症」

　　[★]

英

idiopathic short stature

同

idiopathic dwarfism

[show details]

idiopathic short stature : 約 83,500 件
idiopathic dwarfism : 約 53 件

「ISS」

　　[★]

• 外傷重要度スコア injury severity score Injury Severity Score
• 特発性低身長 idiopathic short stature

「特発性低身長」

　　[★]

英

idiopathic short stature, ISS

「short」

　　[★]

• adj.

• (比較級shorter-最上級shortest)短い、不足した、乏しい、省略された

関

abbreviated、brevis、brief、dearth、deficit、in short、insufficiency、insufficient、lack、paucity、poor、scant、scanty、scarce、scarcity、shortage、shortness

　 　 　 　 　 　 　 　 　 　 　 　 　 　

「idiopathic」

　　[★]

• adj.

• 特発の、特発性の。原因不明の。ある個人に独特の

関

agnogenic、cryptogenic、idiopathy