DYRK1A Expression and Thyroid Dysfunction in Subjects With Down Syndrome
Authors' conclusion
DYRK1A expression is overexpressed in individuals with Down syndrome with hypothyroidism, encompassing both early-onset non-autoimmune and later-onset autoimmune forms.
Study context
- Population
- Individuals with Down syndrome with or without hypothyroidism, and non-DS comparators, tertiary care setting72 Down Syndrome (DS) included
- Exposure
- DYRK1A expression in DS with hypothyroidism vs DS with euthyroidism, congenital hypothyroidism without DS, autoimmune hypothyroidism without DS and healthy controls
- DS with hypothyroidismn = 48
- DS with euthyroidismn = 24
- Outcome
- DYRK1A gene expression in relation to age of onset and autoimmune status in DS with hypothyroidism
Methodological detailstertiary care setting
- Tertiary care setting
Main finding
As reported in the abstract
DYRK1A expression (fold vs comparator)
Fold higher expression
6.33 fold
P < 0.0001
DS with hypothyroidism vs DS with euthyroidism · higher with DS with hypothyroidism
Fold higher expression, anti-TPO-positive
5.17 fold
P < 0.0001
DS with hypothyroidism vs Healthy controls
Fold higher expression, anti-TPO-negative
7.27 fold
P < 0.0001
DS with hypothyroidism vs Healthy controls
Observational data: associations, not effects.
Further findings
Thyroid status and anti-TPO in DS
- Primary hypothyroidism among 72 DS
- 48 (66.7%)
- Anti-TPO negative among DS with hypothyroidism
- 28 (58.3%)
- Hypothyroidism detected below 1 year of age, all anti-TPO-negative
- 20 patients
- Onset after 3 years of age, anti-TPO positive
- 20 (71.4%) of 28
Original publication
DYRK1A Expression and Thyroid Dysfunction in Subjects With Down Syndrome. Clin Endocrinol (Oxf). Published 29 January 2026. doi:10.
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