Updated: 8/5/2019

Congenital Hypothyroidism (Cretinism)

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Questions
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Evidence
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Topic
Snapshot
  • A six-week-old male presents with lethargy and hypotonia. On physical exam, he is jaundiced and has a large protruding tongue.
Introduction
  • Insufficient iodine intake or defect in T4/thyroid formation leading to fetal hypothyroidism 
  • T4 is crucial during first two years of life for normal brain development
  • Cretinism refers to
    • untreated congenital hypothyroidism
    • leads to congenital defects and physical abnormalities
Presentation
  • Symptoms
    • severe mental retardation
    • increased weight and short stature
    • coarse facial features
    • large protuding tounge
    • umbilical hernia
Evaluation
  • Labs
    • decreased T4
    • elevated TSH
Treatment
  • Treat with levothyroxine replacement
Prognosis, Prevention, and Complications
  • Prevention by newborn screening by law

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Questions (3)
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(M1.EC.15.72) A obstetrician is working in a developing country to help promote maternal health and fetal well being. While there, he delivers a baby who he suspects has congenital hypothyroidism, most likely caused by inadequate maternal iodine intake. Which of the following signs and symptoms would NOT be expected to be observed in this child? Tested Concept

QID: 106518
1

Hypotonia

0%

(0/97)

2

Diarrhea

56%

(54/97)

3

Umbilical hernia

14%

(14/97)

4

Mild jaundice

15%

(15/97)

5

Macroglossia

13%

(13/97)

M 2 D

Select Answer to see Preferred Response

(M1.EC.14.0) A 10-week-old female infant born at home presents to the pediatrician because her mother is worried that "she sleeps too much, always feels cold, and does not have bowel movements very frequently." On physical exam, the child has hypotonia, slight to mild jaundice, and the following features (Figure A & B). Which of the following lab findings would be seen in this patient? Tested Concept

QID: 106982
FIGURES:
1

Decreased total & free T4, increased TSH

92%

(33/36)

2

Increased total & free T4, decreased TSH

0%

(0/36)

3

Inhibitory anti-TSH receptor antibodies

0%

(0/36)

4

Stimulatory anti-TSH receptor antibodies

3%

(1/36)

5

Decreased total T4 & T3, normal TSH, increased reverse T3

3%

(1/36)

M 2 D

Select Answer to see Preferred Response

Evidence (4)
EXPERT COMMENTS (12)
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