Unusual thyroid constellation in Down syndrome

Congenital hypothyroidism, Graves' disease, and hemiagenesis in the same child

Research output: Contribution to journalArticle

7 Citations (Scopus)

Abstract

We report a girl with Down syndrome who was diagnosed with congenital hypothyroidism in the newborn period due to left thyroid hemiagenesis. Unexpectedly, her hypothyroidism resolved at the age of 3 years. After being off thyroid hormone replacement for 7 years and having normal thyroid function, she developed Graves' disease. Although Graves' disease in association with thyroid hemiagenesis has previously been reported, this represents the youngest patient in whom this scenario has been described. Issues pertaining to thyroid hemiagenesis, autoimmune hyperthyroidism, and thyroid disease in children with Down's syndrome are discussed.

Original languageEnglish
Pages (from-to)263-268
Number of pages6
JournalJournal of Pediatric Endocrinology and Metabolism
Volume22
Issue number3
StatePublished - Mar 2009

Fingerprint

Congenital Hypothyroidism
Graves Disease
Down Syndrome
Thyroid Gland
Thyroid Diseases
Hypothyroidism
Thyroid Hormones
Autoimmune Diseases
Newborn Infant

Keywords

  • Congenital hypothyroidism
  • Down syndrome
  • Graves' disease
  • Thyroid hemiagenesis

ASJC Scopus subject areas

  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Pediatrics, Perinatology, and Child Health

Cite this

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AB - We report a girl with Down syndrome who was diagnosed with congenital hypothyroidism in the newborn period due to left thyroid hemiagenesis. Unexpectedly, her hypothyroidism resolved at the age of 3 years. After being off thyroid hormone replacement for 7 years and having normal thyroid function, she developed Graves' disease. Although Graves' disease in association with thyroid hemiagenesis has previously been reported, this represents the youngest patient in whom this scenario has been described. Issues pertaining to thyroid hemiagenesis, autoimmune hyperthyroidism, and thyroid disease in children with Down's syndrome are discussed.

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