Screening for celiac disease among patients with Turner syndrome in Brasília, DF, midwest region of Brazil

Dias, Maria do Carmo Sorci; Castro, Luiz Cláudio; Gandolfi, Lenora; Almeida, Rodrigo Coutinho de; Córdoba, Mara Santos; Pratesi, Riccardo

doi:10.1590/s0004-28032010000300007

Cited by 10 publications

(4 citation statements)

References 35 publications

(34 reference statements)

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“…Concerning connective tissue disorders our data confirmed that Sjӧgren syndrome and, to a lesser extent, systemic sclerosis were closely related to CD [ 40 , 41 ], whereas, as previously reported, systemic lupus erythematosus and rheumatoid arthritis were rarely detected in CD [ 42 , 43 ]. As previously demonstrated, Down and, to a lower extent, Turner syndrome were the two chromosomal disorders most commonly associated with CD [ 44 , 45 ].…”

Section: Discussionmentioning

confidence: 89%

The changing clinical profile of celiac disease: a 15-year experience (1998-2012) in an Italian referral center

et al. 2014

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BackgroundCeliac disease is a multiform, challenging condition characterized by extremely variable features. Our goal was to define clinical, serological and histopathological findings in a large cohort of celiacs diagnosed in a single referral center.MethodsFrom January 1998 to December 2012, 770 patients (599 females, median age 36 years, range 18-78 years) were diagnosed as celiacs at St.Orsola-Malpighi Hospital (Bologna, Italy). The clinical phenotypes were classified as: 1) classical (malabsorption syndrome); 2) non-classical (extraintestinal and/or gastrointestinal symptoms other than diarrhea); 3) subclinical. Serology, duodenal histology, comorbidities, response to gluten-free diet and complications were evaluated.ResultsDisease onset was symptomatic in 610 patients (79%), while 160 celiacs showed a subclinical phenotype. In the symptomatic group the non-classical prevailed over the classical phenotype (66% vs 34%). Diarrhea was found in 27%, while other gastrointestinal manifestations were bloating (20%), aphthous stomatitis (18%), alternating bowel habit (15%), constipation (13%) and gastroesophageal reflux disease (12%). Extraintestinal manifestations included osteopenia/osteoporosis (52%), anemia (34%), cryptogenic hypertransaminasemia (29%) and recurrent miscarriages (12%). Positivity for IgA tissue transglutaminase antibodies was detected in 97%. Villous atrophy was found in 87%, while 13% had minor lesions consistent with potential celiac disease. A large proportion of patients showed autoimmune disorders, i.e. autoimmune thyroiditis (26.3%), dermatitis herpetiformis (4%) and diabetes mellitus type 1 (3%). Complicated celiac disease was very rare.ConclusionsOur study demonstrates that the clinical profile of celiac disease changed over time with an increasing rate of non-classical and subclinical phenotypes.

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Section: Discussionmentioning

confidence: 89%

The changing clinical profile of celiac disease: a 15-year experience (1998-2012) in an Italian referral center

et al. 2014

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“…Short stature and gonadal dysgenesis are the most frequent clinical features [2]. With a prevalence of 1:2,500 to 1:3,000 among live-born girls [3,4] and a 45, X karyotype found in approximately 10% of spontaneous aborptions (reviewed in [2,5]), TS is one of the most common chromosomal abnormality. Several studies report an increased frequency of autoimmunity in TS patients [3,6,7] possibly due to a complex interplay of genetic and environmental factors [6,8].…”

Section: Introductionmentioning

confidence: 99%

“…Among autoimmune disorders associated with TS, Hashimoto’s thyroiditis has been estimated to affect around 50% of TS patients [ 2 , 9 ]. Other most commonly associated autoimmune disorders are: celiac disease (CD) [ 3 , 4 ], ulcerative colitis, Crohn’s disease, psoriasis, idiopathic thrombocytopenic purpura, vitiligo and juvenile rheumatoid arthritis [ 6 ]. In a recent investigation by Bakalov et al [ 10 ], findings show that lymphocytic thyroiditis increases greatly in both, women with TS and women with karyotypically normal primary ovarian insufficiency (POI), suggesting that factors associated with ovarian insufficiency per se are responsible for this autoimmune condition.…”

Section: Introductionmentioning

confidence: 99%

Endocrine autoimmunity in Turner syndrome

et al. 2013

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BackgroundTurner syndrome is caused by numeric and structural abnormalities of the X chromosome. An increased frequency of autoimmunity as well as an elevated incidence of autoantibodies was observed in Turner patients. The aim of this study was to conduct a retrospective analysis of the incidence of autoimmunity in 66 Italian patients affected by Turner syndrome.MethodsSixty-six unselected and consecutive Italian Turner patients were recruited. The association between age, karyotype and the presence of clinical/pre-clinical autoimmune disorders and of autoantibodies was examined.ResultsOut of the 66 Turner patients, 26 had thyroid autoimmune disorders (39.4%), 14 patients had Hashimoto’s thyroiditis with clinical or subclinical hypothyroidism (21.2%) and 12 patients had circulating anti-thyroid antibodies, echographic pattern of diffuse hypoechogenicity and normal thyroid hormone levels (18.2%). None were affected by Graves’ disease. We analyzed the overall incidence of thyroid autoimmunity within the 3 different age groups 0–9.9, 10–19.9 and 20–29.9 years. No statistically significant difference was observed in the incidence of thyroid autoimmunity within the age-groups (χ2-test p > 0.05).Out of the 66 patients, 31 patients had the 45,X karyotype; within this first group 14 out of 31 patients were affected by autoimmune thyroid disease. A second group of 29 patients included 19 patients with mosaicism, 5 patients with deletions and 5 patients with ring chromosome; out of these 29 patients 7 were affected by autoimmune thyroid disease. A third group included 6 patients with X isochromosome; 5 out of 6 were affected by autoimmune thyroid disease. A statistically significant difference in the frequency of thyroid autoimmunity within the different karyotype groups was observed (χ2-test p = 0.0173).When comparing the X isochromosome group with the pooled group of other karyotypes, of note, the frequency of thyroid autoimmunity was statistically higher in the X isochromosome group (Fisher exact test p = 0.0315).ConclusionsOur data confirm a high frequency of thyroid autoimmunity in Italian Turner patients. Patients with X isochromosome are more prone to develop thyroid autoimmunity. Further, an early assay of autoantibodies and monitoring thyroid hormones is fundamental for detecting hypothyroidism earlier and start adequate replacement therapy.

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“…Short stature and/or low growth velocity can be the primary or sole manifestation of these disorders. Thus, evaluating the growth pattern may also be helpful in establishing the early diagnosis and understanding the pathogenesis of associated disorders which might influence growth ( 30 , 31 ). The use of population-specific growth charts for the monitoring of growth in TS girls is therefore also recommended to detect the presence of an additional pathology ( 12 ).…”

Section: Discussionmentioning

confidence: 99%

Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

Darendelıler¹,

Yeşilkaya²,

Bereket³

et al. 2015

Jcrpe

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Objective:Children with Turner syndrome (TS) have a specific growth pattern that is quite different from that of healthy children. Many countries have population-specific growth charts for TS. Considering national and ethnic differences, we undertook this multicenter collaborative study to construct growth charts and reference values for height, weight and body mass index (BMI) from 3 years of age to adulthood for spontaneous growth of Turkish girls with TS.Methods:Cross-sectional height and weight data of 842 patients with TS, younger than 18 years of age and before starting any therapy, were evaluated.Results:The data were processed to calculate the 3rd, 10th, 25th, 50th, 75th, 90th and 97th percentile values for defined ages and to construct growth curves for height-for-age, weight-for-age and BMI-for-age of girls with TS. The growth pattern of TS girls in this series resembled the growth pattern of TS girls in other reports, but there were differences in height between our series and the others.Conclusion:This study provides disease-specific growth charts for Turkish girls with TS. These disease-specific national growth charts will serve to improve the evaluation of growth and its management with growth-promoting therapeutic agents in TS patients.

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Screening for celiac disease among patients with Turner syndrome in Brasília, DF, midwest region of Brazil

Cited by 10 publications

References 35 publications

The changing clinical profile of celiac disease: a 15-year experience (1998-2012) in an Italian referral center

The changing clinical profile of celiac disease: a 15-year experience (1998-2012) in an Italian referral center

Endocrine autoimmunity in Turner syndrome

Growth curves for Turkish Girls with Turner Syndrome: Results of the Turkish Turner Syndrome Study Group

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