Hashimoto's thyroiditis in Down's syndrome: clinical presentation and evolution.

Area of Science:

• Pediatric Endocrinology
• Genetics and Genetic Diseases
• Immunology

Background:

• Down syndrome (DS) is associated with an increased risk of autoimmune conditions.
• Hashimoto's thyroiditis (HT) is a common autoimmune thyroid disease.
• Understanding HT in DS is crucial for early diagnosis and management.

Purpose of the Study:

• To describe the clinical presentation and course of Hashimoto's thyroiditis in children with Down syndrome.
• To analyze thyroid antibody status and biochemical data in this cohort.
• To identify unique characteristics of HT in children with DS.

Main Methods:

• Retrospective analysis of clinical, biochemical, and thyroid antibody data.
• Inclusion of 38 patients with Down syndrome and Hashimoto's thyroiditis diagnosed between 1989 and 2004.
• Review of patient records from two Scottish health regions.

Main Results:

• The cohort showed no female predominance, unlike typical HT.
• Goitre was infrequent (6/38 patients).
• Thyroid antibodies were positive in most patients (36/38).
• Almost all patients (37/38) presented with hypothyroidism, with many requiring eventual treatment.
• A fluctuating course between hypothyroidism and hyperthyroidism was observed in some patients.

Conclusions:

• Hashimoto's thyroiditis in children with Down syndrome exhibits an unusual natural history.
• Key differences include the absence of female predominance and infrequent goitre.
• Clinicians must be aware of the potential for fluctuating thyroid function, necessitating careful monitoring and management.