Definitive diagnosis in children with congenital hypothyroidism

Erica A. Eugster, Debbie LeMay, J. Michael Zerin, Ora H. Pescovitz

Research output: Contribution to journalArticle

58 Scopus citations


Objectives: To investigate the definitive diagnosis and underlying causes of congenital hypothyroidism (CH) in eligible children through the use of a standardized protocol. Study design: Children ≥3 years of age with CH without an identified permanent cause underwent a diagnostic algorithm. Eligible subjects had an anatomically normal thyroid or had not undergone imaging studies. After thyroxine was discontinued for 4 weeks, thyroid function tests and a thyroid ultrasound were obtained. An abnormal ultrasound was followed by a 99mTc thyroid scan. A perchlorate washout test was performed in subjects with a normal ultrasound but abnormal thyroid function tests. Children with normal results were followed for 1 year. Results: Of 33 children, 17 were boys. Nine (27%) had an absent or ectopic thyroid, 12 (36%) had dyshormonogenesis, and 12 (36%) had transient CH. Average thyroxine dose before medication discontinuation was 2.9 ± 0.83 μg/kg in permanent cases versus 2.0 ± 0.53 μg/kg in transient (P < .002). No complications from discontinuation of thyroxine occurred. Conclusions: A significant percentage of children with CH have a transient requirement for thyroid hormone. A standardized protocol with thyroid ultrasonography is a safe and sensitive approach to a trial off of thyroxine in select patients.

Original languageEnglish (US)
Pages (from-to)643-647
Number of pages5
JournalJournal of Pediatrics
Issue number5
StatePublished - May 2004

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Fingerprint Dive into the research topics of 'Definitive diagnosis in children with congenital hypothyroidism'. Together they form a unique fingerprint.

  • Cite this