Down Syndrome and thyroid gland

Area of Science:

• Endocrinology
• Genetics
• Pediatrics

Background:

• Down Syndrome (DS), also known as trisomy 21 (T21), is a genetic disorder associated with intellectual disability.
• Thyroid disorders are frequently observed in DS patients, but symptoms can be masked by the DS phenotype.
• Early detection and management of thyroid dysfunction are critical for improving the health and well-being of individuals with DS.

Purpose of the Study:

• To investigate the prevalence and characteristics of thyroid dysfunction in patients with Down Syndrome.
• To compare thyroid function in DS patients with a control group.

Main Methods:

• Thyroid function tests, including TSH levels, were performed on a cohort of DS patients.
• Results were compared to a control group to assess statistical significance.

Main Results:

• A significantly higher frequency of thyroid dysfunction was observed in DS patients compared to the control group (p<0.01).
• Elevated TSH levels were found in 60.34% of examined DS patients.
• Compensated hypothyroidism was diagnosed in 27.92% of DS patients, with a higher incidence in children under 6 years old.

Conclusions:

• The findings underscore the necessity of implementing routine thyroid function screening programs for individuals with Down Syndrome.
• Prompt diagnosis and appropriate treatment of thyroid dysfunction are essential for alleviating symptoms and ensuring better physical and mental development in DS patients.