Literature DB >> 8279490

SHORT syndrome and insulin resistance.

J Schwingshandl1, C J Mache, K Rath, M H Borkenstein.   

Abstract

We describe a further case of SHORT syndrome. This girl shows nearly all the typical manifestations reported in patients with SHORT syndrome. However, at 14 years she presented with non-ketotic hyperglycemia. At 16 1/2 years, the diagnosis of diabetes mellitus secondary to severe insulin resistance was made by intravenous insulin challenge. Insulin resistant diabetes mellitus seems to be a new finding in SHORT syndrome, not previously described in this condition.

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Year:  1993        PMID: 8279490     DOI: 10.1002/ajmg.1320470619

Source DB:  PubMed          Journal:  Am J Med Genet        ISSN: 0148-7299


  6 in total

Review 1.  Lipoatrophic diabetes and other related syndromes.

Authors:  Elif Arioglu Oral
Journal:  Rev Endocr Metab Disord       Date:  2003-03       Impact factor: 6.514

2.  Mutations in PIK3R1 cause SHORT syndrome.

Authors:  David A Dyment; Amanda C Smith; Diana Alcantara; Jeremy A Schwartzentruber; Lina Basel-Vanagaite; Cynthia J Curry; I Karen Temple; William Reardon; Sahar Mansour; Mushfequr R Haq; Rodney Gilbert; Ordan J Lehmann; Megan R Vanstone; Chandree L Beaulieu; Jacek Majewski; Dennis E Bulman; Mark O'Driscoll; Kym M Boycott; A Micheil Innes
Journal:  Am J Hum Genet       Date:  2013-06-27       Impact factor: 11.025

3.  New classification and diagnostic criteria for insulin resistance syndrome.

Authors:  Wataru Ogawa; Eiichi Araki; Yasushi Ishigaki; Yushi Hirota; Hiroshi Maegawa; Toshimasa Yamauchi; Tohru Yorifuji; Hideki Katagiri
Journal:  Diabetol Int       Date:  2022-01-31

4.  Iris Malformation and Anterior Segment Dysgenesis in Mice and Humans With a Mutation in PI 3-Kinase.

Authors:  Marie H Solheim; Allen C Clermont; Jonathon N Winnay; Erlend Hallstensen; Anders Molven; Pål R Njølstad; Eyvind Rødahl; C Ronald Kahn
Journal:  Invest Ophthalmol Vis Sci       Date:  2017-06-01       Impact factor: 4.799

5.  PI3-kinase mutation linked to insulin and growth factor resistance in vivo.

Authors:  Jonathon N Winnay; Marie H Solheim; Ercument Dirice; Masaji Sakaguchi; Hye-Lim Noh; Hee Joon Kang; Hirokazu Takahashi; Kishan K Chudasama; Jason K Kim; Anders Molven; C Ronald Kahn; Pål R Njølstad
Journal:  J Clin Invest       Date:  2016-03-14       Impact factor: 14.808

6.  Clinical characteristics of insulin resistance syndromes: A nationwide survey in Japan.

Authors:  Takehito Takeuchi; Yasushi Ishigaki; Yushi Hirota; Yutaka Hasegawa; Tohru Yorifuji; Hiroko Kadowaki; Takashi Akamizu; Wataru Ogawa; Hideki Katagiri
Journal:  J Diabetes Investig       Date:  2019-12-05       Impact factor: 4.232

  6 in total

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