Hyperthyrotropinemia in newly diagnosed cystic fibrosis patients with pancreatic insufficiency reversed by enzyme therapy

Eur J Pediatr. 2018 May;177(5):775-779. doi: 10.1007/s00431-018-3120-3. Epub 2018 Feb 27.


Patients with cystic fibrosis (CF) commonly present with an elevated TSH concentration, suggesting subclinical hypothyroidism. Its relation to concomitant pancreatic insufficiency and its natural course upon initiation of enzyme replacement have not been adequately studied. Herein, we investigated the thyroid function in newly diagnosed infants with CF and monitored the course of thyroid function response to pancreatic enzyme substitution treatment. Fourteen, newly diagnosed infants with CF and pancreatic insufficiency, were followed every 6-8 weeks for 6 months ensuing onset of pancreatic enzyme substitution therapy. All infants had normal TSH values on neonatal screening. Ten out of 14 (71%) had hyperthyrotropinemia and normal freeT4 values at presentation. No patient received thyroxine. Upon follow-up, after 6 months, TSH values normalized in 90% of infants with CF and hyperthyrotropinemia. Serum selenium levels were negatively correlated with TSH levels.

Conclusion: Mild TSH elevation is a frequent finding in newly diagnosed cystic fibrosis patients with pancreatic insufficiency during infancy. TSH elevation resolves in most cases after initiation of enzyme substitution and improvement of nutritional status without any substitutive therapy with thyroxine. What is Known: • Newly diagnosed infants with cystic fibrosis often present with a state of hyperthyrotropinemia suggesting subclinical hypothyroidism. What is New: • Pancreatic enzyme substitution and improvement of nutrition restores normal TSH levels without the need of thyroxine therapy.

Keywords: Cystic fibrosis; Hyperthyrotropinemia; Pancreatic enzyme therapy; Subclinical hypothyroidism; Thyroid.

MeSH terms

  • Cystic Fibrosis / complications*
  • Cystic Fibrosis / therapy
  • Enzyme Replacement Therapy / methods*
  • Exocrine Pancreatic Insufficiency / complications
  • Exocrine Pancreatic Insufficiency / therapy*
  • Female
  • Follow-Up Studies
  • Humans
  • Hypothyroidism / blood
  • Hypothyroidism / etiology*
  • Hypothyroidism / therapy
  • Infant
  • Infant, Newborn
  • Male
  • Neonatal Screening
  • Selenium / blood
  • Thyroid Function Tests / methods
  • Thyroid Gland / physiopathology
  • Thyrotropin / blood*
  • Vitamin E / blood


  • Vitamin E
  • Thyrotropin
  • Selenium