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Case Challenges

 

Potential Dangers and Treatments for Congenital Hypothyroidism in Pediatric Patients

Dr. Rosalind Brown
Director, Clinical Trial Research (Endocrinology)
Coordinator, Clinical Research Conference, Endocrine Division 
Chair, Career Development Workshop Subcommittee, Endocrine Division
Children's Hospital Boston
Boston, MA

References

You are consulted about a 2-day-old baby in the newborn nursery because of dysmorphic features and mild edema. On history, you note that the patient is a full-term male infant whose birth weight was 3.1 kg. Immediately following delivery, he was noted to have severe respiratory distress, which required intubation. Chest radiograph was consistent with severe hyaline membrane disease. On physical examination, you find that his anterior fontanelle is enlarged and his posterior fontanelle is patent. He has a large tongue and has periorbital edema. He does not have any palpable thyroid tissue. He is not jaundiced. He has a small umbilical hernia.

Which of the following diagnoses do you suspect?
Thyroxine-binding globulin (TBG) deficiency 
Congenital hypothyroidism
Euthyroid sick syndrome
Thyroid function tests are the most appropriate initial tests to order.
True 
False
 
Which of the following findings make you suspect this diagnosis?
Large tongue 
Periorbital edema
Unusually large, patent fontanelles for a full-term baby
Respiratory distress syndrome (RDS)
All of the above

 
 
 
 
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