It has been known that females with Turner syndrome (TS) have an increased prevalence of autoantibodies and are at increased risk of developing autoimmune diseases. Immunological disturbances have been described in TS: a slight decrease in immunoglobulin serum levels and in circulating T and B cells percentages. This data is not entirely in concordance with some more recent studies. The effects of the immune derangement, found only by some studies, may account for the association of TS with autoimmune disease. In TS there is an increased risk of celiac disease (CD), though the risk is considerably smaller than that for thyroiditis. Some multicenter studies have been performed (Sweden, Canada, Poland, Italy and Germany) and the reported prevalence of CD is 4.2-6.4 % in TS versus 0.35-0.5 % in GP. Apparently the risk is very low before school age. TS subjects with CD do not show particular dysmorphic signs. Only half of the CD subjects had a typical clinical picture and this finding speaks in favour of screening rather than just investigate TS patients with symptoms. In 44% of patients with CD and TS various autoimmune disorders were found vs the 4.5%-14% of CD subjects of the GP. In the subjects whose CD diagnosis was made before 15 years of age the autoimmune pathologies were found in 32% and in 55% in the subjects diagnosed afterward. Conclusions - As a high risk population TS girls and women should be screened for CD - if positive have diagnosis confirmed - according to NASPGHAN guidelines, which represent the most uptodate guidelines. Measurement of tissue transglutaminase IgA antibodies should begin at age 6 and repeated every 2-5 years. In TS subjects, positive to antibody determination, intestinal endoscopic biopsy was recommended, because in a third of CD subjects vascular alterations in the intestinal mucosa were detected. The screening for CD could be proposed as soon as possible after the diagnosis of TS. CD screening should be performed before the beginning of GH-therapy: to avoid a bad response to treatment, to improve growth and optimize bone mineral density.
Mazzanti L (2009). Gastro-intestinal disease in Turner syndrome. ARHUS : Claus H. Gravholt.
Gastro-intestinal disease in Turner syndrome
MAZZANTI, LAURA
2009
Abstract
It has been known that females with Turner syndrome (TS) have an increased prevalence of autoantibodies and are at increased risk of developing autoimmune diseases. Immunological disturbances have been described in TS: a slight decrease in immunoglobulin serum levels and in circulating T and B cells percentages. This data is not entirely in concordance with some more recent studies. The effects of the immune derangement, found only by some studies, may account for the association of TS with autoimmune disease. In TS there is an increased risk of celiac disease (CD), though the risk is considerably smaller than that for thyroiditis. Some multicenter studies have been performed (Sweden, Canada, Poland, Italy and Germany) and the reported prevalence of CD is 4.2-6.4 % in TS versus 0.35-0.5 % in GP. Apparently the risk is very low before school age. TS subjects with CD do not show particular dysmorphic signs. Only half of the CD subjects had a typical clinical picture and this finding speaks in favour of screening rather than just investigate TS patients with symptoms. In 44% of patients with CD and TS various autoimmune disorders were found vs the 4.5%-14% of CD subjects of the GP. In the subjects whose CD diagnosis was made before 15 years of age the autoimmune pathologies were found in 32% and in 55% in the subjects diagnosed afterward. Conclusions - As a high risk population TS girls and women should be screened for CD - if positive have diagnosis confirmed - according to NASPGHAN guidelines, which represent the most uptodate guidelines. Measurement of tissue transglutaminase IgA antibodies should begin at age 6 and repeated every 2-5 years. In TS subjects, positive to antibody determination, intestinal endoscopic biopsy was recommended, because in a third of CD subjects vascular alterations in the intestinal mucosa were detected. The screening for CD could be proposed as soon as possible after the diagnosis of TS. CD screening should be performed before the beginning of GH-therapy: to avoid a bad response to treatment, to improve growth and optimize bone mineral density.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
