questions 2

Congenital Hypothyroidism (Cretinism)

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Topic updated on 04/07/17 11:07am

Snap Shot
  • A six-week old male presents with lethargy and hypotonia. On physical exam he is jaundiced and has a large protruding tounge.
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 screeening by law


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Qbank (2 Questions)

TAG
(M1.EC.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? Topic Review Topic
FIGURES: A   B        

1. Decreased total & free T4, increased TSH
2. Increased total & free T4, decreased TSH
3. Inhibitory anti-TSH receptor antibodies
4. Stimulatory anti-TSH receptor antibodies
5. Decreased total T4 & T3, normal TSH, increased reverse T3

PREFERRED RESPONSE ▶
TAG
(M1.EC.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? Topic Review Topic

1. Hypotonia
2. Diarrhea
3. Umbilical hernia
4. Mild jaundice
5. Macroglossia

PREFERRED RESPONSE ▶


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