Related Experiment Video
Updated: May 31, 2026

Generation of a Mouse Spontaneous Autoimmune Thyroiditis Model
Published on: March 17, 2023
Increased risk of coeliac disease in patients with congenital hypothyroidism
Stefano Stagi1, Cristina Manoni, Cecilia Cecchi
1Department of Paediatrics, University of Florence, Anna Meyer Children's Hospital, Italy. stefano.stagi@yahoo.it
Insights
Children with congenital hypothyroidism (CH) show a higher prevalence of coeliac disease (CD). Further research is needed to understand the link between CH and CD.
Area of Science:
- Pediatric Endocrinology
- Gastroenterology
- Autoimmunology
Background:
- Congenital hypothyroidism (CH) is a condition where infants are born with an underactive thyroid gland.
- Coeliac disease (CD) is an autoimmune disorder triggered by gluten consumption.
- The co-occurrence of CH and CD has been reported infrequently.
Purpose of the Study:
- To investigate the prevalence of coeliac disease (CD) in children diagnosed with permanent congenital hypothyroidism (CH).
- To assess the familial occurrence of autoimmune diseases in children with CH compared to controls.
Main Methods:
- Studied 79 children with permanent CH (age 3.1-12.1 years) and 182 age/sex-matched controls.
- Collected family history of autoimmune diseases and evaluated serum for CD antibodies (IgA, antigliadin, anti-endomysium, anti-transglutaminase).
- Confirmed CD diagnosis via jejunal biopsy in antibody-positive subjects.
Main Results:
- A significantly higher prevalence of autoimmune diseases in the families of CH patients (22% vs. 7.9%, p < 0.001).
- 6 CH patients (7.6%) tested positive for CD antibodies, compared to 1% in controls (p < 0.005).
- Histological confirmation of CD in 5 out of 6 antibody-positive CH patients (6.3% overall prevalence).
Conclusions:
- Children with permanent CH exhibit a higher prevalence of coeliac disease.
- Routine monitoring for CD is recommended in pediatric patients with CH.
- Further studies are required to elucidate the underlying mechanisms connecting CH and CD.
Background:
In patients with congenital hypothyroidism (CH), the presence of coeliac disease (CD) has been sporadically described.
Methods:
Seventy-nine consecutive children (58 females and 21 males; age range 3.1-12.1 years) with permanent CH were studied. For all patients, a family history of autoimmune diseases as far as second-degree relatives was collected, and total serum IgA, antigliadin, anti-endomysium and anti-transglutaminase antibodies were evaluated. In the subjects positive for CD antibodies, the CD diagnosis was confirmed by jejunal biopsy. One hundred and eighty-two Italian children from the same geographical area, matched for age and sex, acted as controls.
Results:
In CH patients, a statistically significant difference was found in the familial occurrence of autoimmune diseases compared to controls (22 vs. 7.9%; p < 0.001). A total of 6 patients (4 girls, 2 boys; 7.6 vs. 1%; p < 0.005) were positive for CD antibodies. In 5 of these patients (6.3%), the diagnosis of CD was confirmed histologically.
Conclusion:
Our data show a higher prevalence of CD in children with permanent CH and suggest that these patients should be monitored carefully for CD. Other studies are needed to confirm our results and to explain the causes of this possible relationship.
Related Concept Videos
Hypothyroidism II: Pathophysiology
Hyperthyroidism I: Introduction
Graves' Disease I: Introduction
Goiter
Hyperthyroidism II: Pathophysiology
Graves Disease II: Pathophysiology
