January - March 2007, Volume 3, Issue 1

Stanescu Popp A, Anca I, Bica V, Ionesti C, Alexe G

Association of celiac disease and Turner syndrome

Acta Endo (Buc) 2007, 3 (1): 93-100
doi: 10.4183/aeb.2007.93

Turner syndrome is one of the genetic disorders studied on their association with celiac disease. We present a 27 year old female with an association of Turner syndrome and celiac disease. Gluten intolerance presenting with atypical extraintestinal symptoms (recurrent aphthous stomatitis, iron-deficient anemia, short-stature) was confirmed by intestinal biopsy showing flat small bowel mucosa (Marsh IIIc lesion) and a peripheral lymphocyte karyotype analysis revealed a Turner syndrome determined by isochromosome 46,X,i (Xq) structural abnormality. Our patient fits perfect into this variant of Turner’s Syndrome presenting at least one autoimmune disorder (celiac disease) and hearing loss. Her clinical, biological and immunological disturbances caused by two irreversible disorders have a poor outcome in the absence of gluten-free diet associated with adequate endocrinologic treatment and need sustained long-term follow - up for a good quality of life.

Keywords: celiac disease, Turner syndrome, isochromosome 46,X,i (Xq), follow-up

Correspondence: Alina Stanescu Popp , MD, 2 Alexandru Donici Str, Ap. 8A, sector 2, Bucharest, Romania, e-mail: stanescualina@yahoo.com