An increased prevalence of thyroid disease in children with 22q11.2 deletion syndrome

Area of Science:

• Pediatric Endocrinology
• Genetics
• Internal Medicine

Background:

• 22q11.2 deletion syndrome (22q11.2 DS) is associated with various health issues.
• Thyroid dysfunction is a known complication, but its prevalence in pediatric 22q11.2 DS requires further investigation.

Purpose of the Study:

• To determine the prevalence of thyroid dysfunction in pediatric patients with 22q11.2 DS.
• To compare this prevalence with general pediatric population data.
• To identify trends in gender, disease subtype, and comorbidities.

Main Methods:

• Retrospective review of health records from a 22q11.2 DS multidisciplinary clinic over 5 years.
• Analysis of 169 pediatric patients (92 male, 77 female).
• Statistical tests to assess prevalence, gender differences, and disease progression.

Main Results:

• 9.5% of pediatric patients with 22q11.2 DS had overt thyroid disease (1.8% hyperthyroidism, 7.7% hypothyroidism).
• Thyroid disease prevalence is significantly higher than in the general pediatric population.
• 42% of patients with subclinical or prodromal thyroid disease progressed to overt disease.

Conclusions:

• Thyroid disease is more prevalent in children with 22q11.2 DS than in the general pediatric population.
• A significant proportion of patients with subclinical thyroid disease progress to overt disease, necessitating medical therapy.
• Routine thyroid disease screening should be integrated into the medical management of children with 22q11.2 DS.