Autoimmune diseases in Turner syndrome

Mazzanti, Laura; Naeraa, Rune Weis

doi:10.1016/j.ics.2006.07.001

Cited by 2 publications

(2 citation statements)

References 33 publications

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“…A higher CD prevalence was reported for Irish TS girls (9%) [14] and for Italian TS girls (12.9%; 4/31) [15]. The prevalence of CD in TS patients in multicentre studies conducted in Sweden, Canada, Poland, and Italy ranged between 2.2 and 6.4% vs. 0.35-0.5% in GP [27]. In a population-based relative risk estimation study, Màrild et al found an overall 3-fold increased risk of CD in Swedish TS patients, ranging from 2-fold in the first 5 years of life to a 5-fold increase in females aged above 10 years at CD screening [28], which reinforces the fact that the prevalence of AD in TS evolves with age [5,6].…”

Section: Discussionmentioning

confidence: 85%

The prevalence of celiac disease, related HLA-genotypes, and comorbidities among Egyptian girls with Turner syndrome: a single-centre study

Salem¹,

Hendawy²

2021

polp

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Aim of the study: An association between celiac disease (CD) and Turner syndrome (TS) has gained widespread recognition with wide-ranging prevalence rates. Insufficient data are available concerning this association among Egyptian TS girls. Therefore, we aimed to examine the prevalence of CD; to define the predisposing HLA-genotypes, clinical characteristics and associated comorbidities in a cohort of Egyptian TS girls; and to assess the impact of karyotypes and oestrogen exposure on the overall prevalence of autoimmunity. Material and methods: Fifty-five TS girls were initially screened by total IgA and anti-tissue transglutaminase (anti-tTG) IgA. Anti-tTG-IgG assay is a second step in IgA-deficient girls. CD-seropositive TS girls were subjected to HLA-typing and endoscopic duodenal biopsies, and were evaluated for associated comorbidities. Results: Seroprevalence (anti-tTG-IgA > 10 U/ml) and biopsy-confirmed prevalence of CD were 5.5% (3/55) and 3.6% (2 girls only underwent endoscopic biopsies and displayed Marsh-IIIb), respectively. Absolute and partial IgA-deficiency were observed in 1 and 5 girls, respectively; they were all negative for anti-tTG-IgG. HLA-typing of CD-seropositive girls showed that case 1: DQA1+/DRB1-; case 2: DQA1+/DRB1+; and case 3: DQB1+/DRB1-. Iron-deficiency anaemia, vitamin-D deficiency, and low bone mineral density were detected among celiac girls. No significant associations were observed between different karyotypes or oestrogen exposure and autoimmunity prevalence. Conclusions: Seroprevalence and biopsy-confirmed prevalence of CD in Egyptian TS girls were 5.5% and 3.6%, respectively, which supports the association between these disorders and reinforces the importance of screening for CD in TS patients as a high-risk population. All CD-seropositive girls displayed the predisposing CD HLA-DQ2 and/or DR4 alleles. Careful surveillance for comorbidities is essential to improve overall health outcomes.

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Section: Discussionmentioning

confidence: 85%

The prevalence of celiac disease, related HLA-genotypes, and comorbidities among Egyptian girls with Turner syndrome: a single-centre study

Salem¹,

Hendawy²

2021

polp

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“…A host of physical risks accompany TS: redgreen color deficiency, strabismus (a visual im-pairment in which the eyes cannot simultaneously focus on an object; also known as crossed eyed or lazy eye), hyperopia (farsightedness), hearing loss, and inflammation of the middle ear (Saenger, Nussbaum, & Lippe, 2006), obesity, diabetes, hypothyroidism, heart disease, hypertension, stroke, liver cirrhosis, and osteoporosis (Gardner & Sutherland, 2004;Landin-Wihelmsen et al, 2006); and autoimmune diseases, including celiac disease (Mazzanti & Naeraa, 2006). Life expectancy, however, may not be limited.…”

Section: Discussionmentioning

confidence: 99%

Psychoeducational implications of sex chromosome anomalies.

Wodrich¹,

Tarbox²

2008

School Psychology Quarterly

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Numerous anomalies involving the sex chromosomes (X or Y) have been documented and their impact on development, learning, and behavior studied. This article reviews three of these disorders, Turner syndrome, Klinefelter syndrome, and Lesch-Nyhan disease. Each of these three is associated with one or more selective impairments or behavioral abnormalities. The origin of these disorder-specific impairments is becoming progressively understood at the level of genetics, central nervous system structures and functions, and neurotransmitter action. Accordingly, knowledge of the three disorders is important not only to help practitioners provide services for affected students but also to enhance their general understanding of the physiological influences on behavior.

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Autoimmune diseases in Turner syndrome

Cited by 2 publications

References 33 publications

The prevalence of celiac disease, related HLA-genotypes, and comorbidities among Egyptian girls with Turner syndrome: a single-centre study

The prevalence of celiac disease, related HLA-genotypes, and comorbidities among Egyptian girls with Turner syndrome: a single-centre study

Psychoeducational implications of sex chromosome anomalies.

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