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Coexisting ADAR and TSHB Mutations in an Infant With Retinal Detachment and Transient Cardiomyopathy
Tamer Draidi1, Mohammad Khalil1, Abed Kabaha1
1Department of Medicine, Faculty of Medicine and Health Sciences, An-Najah National University, Nablus, State of Palestine, najah.edu.
Case Reports in Endocrinology
|June 8, 2026
Summary
This case highlights a rare co-occurrence of central congenital hypothyroidism (C-CH) and Aicardi-Goutières syndrome type 6 (AGS6) in an infant. Early genetic testing and cardiac monitoring are crucial for diagnosing and managing these complex conditions.
Area of Science:
- Genetics
- Endocrinology
- Neurology
Background:
- Central congenital hypothyroidism (C-CH) due to TSHB variants is rare and often missed by standard screening.
- Aicardi-Goutières syndrome type 6 (AGS6) is an interferonopathy characterized by early-onset encephalopathy.
Purpose of the Study:
- To report a unique case of coexisting TSHB-related C-CH and ADAR-related AGS6.
- To emphasize the importance of genetic evaluation in infants with syndromic features and central hypothyroidism.
- To highlight the need for cardiac surveillance in neonatal hypoglycemia.
Main Methods:
- Clinical presentation and biochemical analysis of a term infant with failure to thrive, edema, hypoglycemia, and cardiac abnormalities.
- Whole-exome sequencing to identify genetic variants.
- L-thyroxine replacement and nutritional rehabilitation.
Main Results:
- The infant presented with central hypothyroidism, hypoalbuminemia, elevated liver enzymes, and biventricular hypertrophy.
- Genetic analysis revealed homozygous pathogenic variants in ADAR and TSHB.
- Treatment corrected hypoglycemia and cardiac function, but global developmental delay persisted.
Conclusions:
- This is the first reported case of coexisting TSHB-related C-CH and ADAR-related AGS6.
- Early genetic evaluation is vital for infants with central hypothyroidism and syndromic features.
- Systematic cardiac surveillance is important for detecting reversible cardiomyopathy in severe neonatal hypoglycemia.
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