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Neonatal Cholestasis Caused by Undiagnosed Maternal Graves' Disease

Raghu U Varier1, M Kyle Jensen2, Christa J Adams2

  • 1University of Utah School of Medicine, Salt Lake City, UT ; Northwest Pediatric Gastroenterology, LLC, Portland, OR.

ACG Case Reports Journal
|July 10, 2015
PubMed

Insights

Hyperthyroidism is rarely linked to neonatal cholestasis. This case highlights a hyperthyroid infant with cholestasis whose newborn screening missed the thyroid dysfunction, emphasizing the need for careful evaluation.

Area of Science:

  • Neonatology
  • Endocrinology
  • Pediatric Gastroenterology

Background:

  • Neonatal cholestasis stems from diverse causes like anatomical, infectious, and metabolic issues.
  • Hyperthyroidism is an uncommon cause of neonatal cholestasis, unlike hypothyroidism.
  • Newborn screening aids in detecting metabolic disorders, including thyroid dysfunction.

Observation:

  • A unique case of cholestasis in a neonate with hyperthyroidism is presented.
  • The infant's mother had undiagnosed and untreated Graves' disease.
  • The infant's metabolic screening did not identify the thyroid dysfunction.

Findings:

  • Low or undetectable thyroid-stimulating hormone (TSH) levels may not be flagged as abnormal in newborn screenings.
  • Hyperthyroidism, even in the context of maternal Graves' disease, can present with neonatal cholestasis.
  • Standard newborn metabolic screens may not detect subclinical or overt hyperthyroidism contributing to cholestasis.

Implications:

  • Clinicians should consider hyperthyroidism in neonates with cholestasis, even with normal newborn screening results.
  • Maternal thyroid status is crucial in evaluating neonatal cholestasis.
  • Diagnostic criteria for newborn screening may need refinement to include low TSH levels for early detection of thyroid dysfunction.

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