Pediatric toxic polycystic thyroid

Area of Science:

• Endocrinology
• Pediatric Endocrinology
• Thyroidology

Background:

• Polycystic thyroid disease (PCTD) is a rare endocrine disorder typically observed in adults with hypothyroidism.
• This study presents the first documented case of diffuse macrocystic degeneration of the thyroid in a pediatric patient.

Observation:

• A 6-year-old presented with a 16-month history of an enlarging polycystic thyroid and hyperthyroidism.
• Autoimmune thyroid disease markers were negative, and there was no family history of thyroid or cystic disease.
• The patient underwent total thyroidectomy and is now euthyroid with hormone replacement therapy.

Findings:

• This case represents the first reported instance of PCTD in a pediatric patient associated with hyperthyroidism.
• The hyperthyroidism was not linked to autoimmune thyroid disease, suggesting alternative underlying mechanisms.
• The patient's condition resolved post-thyroidectomy, with ongoing management for euthyroidism.

Implications:

• Polycystic thyroid degeneration can manifest in children, potentially leading to hyperthyroidism.
• Further research is needed to explore the potential role of somatic activating thyrotropin-receptor gene mutations in pediatric PCTD.
• This case expands the known clinical spectrum of PCTD and its presentation in pediatric populations.