NEWBORN SCREENING

CONGENITAL HYPOTHYROIDISM

[Primary TSH test/Elevated TSH]

 

Differential Diagnosis: Primary congenital hypothyroidism (CH); transient CH. 

Condition Description: Lack of adequate thyroid hormone production. 

You Should Take the Following Actions:

  • Contact family IMMEDIATELY to inform them of the newborn screening test result
  • Consult pediatric endocrinologist; referral to endocrinologist if considered appropriate
  • Evaluate infant (see clinical considerations below)
  • Initiate timely confirmatory/diagnostic testing as recommended by the specialist
  • Initiate treatment as recommended by consultant as soon as possible
  • Educate parents/caregivers that hormone replacement prevents mental retardation
  • Report findings to state newborn screening program (Carleigh Soule at 307-777-6297)  

Diagnostic Evaluation: Diagnostic tests include serum free T4 and thyroid stimulating hormone (TSH); consultant may also recommend total T4 and T3 resin uptake. Test results include reduced free T4 and elevated TSH in primary hypothyroidism; if done; if done, reduced total T4 and low or normal T3 resin uptake. 

Clinical Considerations: Most neonates are asymptomatic, though a few can manifest some clinical features, such as prolonged jaundice, puffy facies, large fontanels, macroglossia and umbilical hernia. Untreated congenital hypothyroidism results in developmental delay or mental retardation and poor growth.  

Additional Information: (Click on the name to take you to the website)  

New England Newborn Screening                             Wyoming Department of Health
http://www.umassmed.edu                                     http://www.health.wyo.gov  

American Academy of Pediatrics                                Colorado Newborn Screening http://pediatrics.aappublications.org                           http://www.cdphe.state.co.us 


Genetics Home Reference  
http://ghr.nlm.nih.gov/

 

www.acmg.net

 

For Algorithm: http://www.acmg.net/resources/policies/ACT/Visio-TSH_4-19-06.pdf (TSH)

                     http://www.acmg.net/resources/policies/ACT/Visio-CH-T4_4-19-06.pdf (T4)