An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome
-
Judith Stoklasova
,
Jirina Zapletalova
Abstract
Background
Females with Turner syndrome (TS) are prone to develop autoimmune diseases (AIDs). The X chromosome contains several immune-related genes. Growth hormone (GH) and estrogens modulate the immune system. We aimed to clarify whether the loss of a specific X chromosome gene locus and the administration of GH and estradiol facilitate the development of AIDs in TS females.
Methods
Retrospective data on clinical course, AIDs, karyotype and treatment were analyzed from a cohort of 286 Czech females with TS (current age 2.8–43.3 years; median age 18.7 years). The karyotypes were sorted using two different classification systems: a mosaicism-focused and an isochromosome (isoXq)-focused approach. Karyotype subgroups with a significantly higher prevalence of AIDs were further evaluated. Data of common therapies were correlated with the prevalence of AIDs.
Results
The most frequent AIDs were autoimmune thyroid disease (AITD; 37.4%; n = 107) and celiac disease (CD; 8.7%; n = 25). All karyotype subgroups were prone to develop AIDs. Females with an isolated Xp deletion had a significantly higher prevalence of AITD and CD compared to all other individuals with TS (AITD: 66.0% vs. 31.5%, p < 0.0001; CD: 17.4% vs. 7.2%; p = 0.04, respectively). We observed no link between the mean age at initiation as well as the duration of GH and/or estrogen administration and the occurrence of AIDs.
Conclusions
Isolated Xp deletion contributes to the development of AIDs in TS patients. The haploinsufficiency of genes located in Xpter-p11.2 may explain this observation. Common therapies used in TS do not modify the risk of AIDs.
Acknowledgments
We would like to thank Michaela Vernerova who contributed to data collection. Research on Turner syndrome was supported by a grant from the Czech Health Research Council (AZV No. NV 17-29111A).
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: Czech Health Research Council, NV 17-29111A.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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©2019 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Reviews
- Using height-corrected definition of metabolic syndrome in children and adolescents
- Association between early antibiotic exposure and risk of childhood weight gain and obesity: a systematic review and meta-analysis
- Original Articles
- Carbonated beverage consumption is associated with lower C-peptide in adolescents
- Low levels of cardiorespiratory fitness and abdominal resistance are associated with metabolic risk in schoolchildren
- Effect of metformin on clinical and biochemical hyperandrogenism in adolescent girls with type 1 diabetes
- Obesity-related thyroiditis in childhood: relationship with insulin resistance
- An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome
- Non-invasive assessment of aortic stiffness and blood pressure in young Turner syndrome patients
- High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening
- The “combined team” transition clinic model in endocrinology results in high adherence rates and patient satisfaction
- Utilizing health information technology to improve the recognition and management of life-threatening adrenal crisis in the pediatric emergency department: medical alert identification in the 21st century
- Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia: 6 years of follow-up
- Letter to the Editor
- Growth failure in infancy and early adiposity rebound
- Short Communication
- Clinical utility of stimulation tests in infants with suspected adrenal insufficiency (AI)
- Case Reports
- Two siblings with Gaucher type 3c: different clinical presentations
- Acquired partial lipodystrophy with metabolic disease in children following hematopoietic stem cell transplantation: a report of two cases and a review of the literature
- Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype
Artikel in diesem Heft
- Frontmatter
- Reviews
- Using height-corrected definition of metabolic syndrome in children and adolescents
- Association between early antibiotic exposure and risk of childhood weight gain and obesity: a systematic review and meta-analysis
- Original Articles
- Carbonated beverage consumption is associated with lower C-peptide in adolescents
- Low levels of cardiorespiratory fitness and abdominal resistance are associated with metabolic risk in schoolchildren
- Effect of metformin on clinical and biochemical hyperandrogenism in adolescent girls with type 1 diabetes
- Obesity-related thyroiditis in childhood: relationship with insulin resistance
- An isolated Xp deletion is linked to autoimmune diseases in Turner syndrome
- Non-invasive assessment of aortic stiffness and blood pressure in young Turner syndrome patients
- High frequency of non-classical congenital adrenal hyperplasia form among children with persistently elevated levels of 17-hydroxyprogesterone after newborn screening
- The “combined team” transition clinic model in endocrinology results in high adherence rates and patient satisfaction
- Utilizing health information technology to improve the recognition and management of life-threatening adrenal crisis in the pediatric emergency department: medical alert identification in the 21st century
- Testicular adrenal rest tumors in patients with congenital adrenal hyperplasia: 6 years of follow-up
- Letter to the Editor
- Growth failure in infancy and early adiposity rebound
- Short Communication
- Clinical utility of stimulation tests in infants with suspected adrenal insufficiency (AI)
- Case Reports
- Two siblings with Gaucher type 3c: different clinical presentations
- Acquired partial lipodystrophy with metabolic disease in children following hematopoietic stem cell transplantation: a report of two cases and a review of the literature
- Therapeutic challenges in a patient with the simple virilizing (SV) form of congenital adrenal hyperplasia (CAH) due to the P30L/I172N genotype
