Genetic heterogeneity of XY gonadal dysgenesis (Swyer syndrome): H-Y antigen-negative XY gonadal dysgenesis associated with inflammatory bowel disease

1981 ◽  
Vol 8 (4) ◽  
pp. 437-441 ◽  
Author(s):  
Eberhard Passarge ◽  
Ulrich Wolf ◽  
John M. Opitz
Keyword(s):  
Inflammatory Bowel Disease ◽  
Genetic Heterogeneity ◽  
Bowel Disease ◽  
Gonadal Dysgenesis ◽  
Xy Gonadal Dysgenesis ◽  
Inflammatory Bowel ◽  
Swyer Syndrome

The Presence of Anti-Neutrophil Antibodies Reflects Clinical and Genetic Heterogeneity Within Inflammatory Bowel Disease

1998 ◽  
Vol 4 (1) ◽  
pp. 18-26 ◽  
Author(s):  
Jack Satsangi ◽  
Carol J. Landers ◽  
Ken I. Welsh ◽  
Konrad Koss ◽  
Stephan Targan ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Genetic Heterogeneity ◽  
Bowel Disease ◽  
Inflammatory Bowel

scholarly journals Unusual Cause of Gastrointestinal Bleeding in a Patient with Turner Syndrome

2018 ◽  
Vol 12 (2) ◽  
pp. 292-296 ◽  
Author(s):  
Rafael Bergesch D’Incao ◽  
Marcelo Campos Appel-da-Silva ◽  
Patricia dos Santos Marcon ◽  
Eduardo Marques Correa ◽  
Euler Manenti ◽  
...  
Keyword(s):  
Inflammatory Bowel Disease ◽  
Gastrointestinal Bleeding ◽  
Short Stature ◽  
Turner Syndrome ◽  
X Chromosome ◽  
Bowel Disease ◽  
Genetic Disease ◽  
Gonadal Dysgenesis ◽  
Vascular Lesions ◽  
Inflammatory Bowel

Turner syndrome is an exclusively female genetic disease caused by complete or partial absence of the second X chromosome. It is classically characterized by congenital lymphedema, short stature, and gonadal dysgenesis. In addition, the syndrome is associated with several other abnormalities. One of them is gastrointestinal bleeding, which is frequently associated with inflammatory bowel disease, but it can also be caused by vascular lesions such as hemangioma, vascular ectasia, and telangiectasia. We report the case of a patient with Turner syndrome with an episode of gastrointestinal bleeding, outlining our pathway for the investigation and treatment of this condition.

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