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WorksheetsCongenital Hypothyroidism Quiz
Total questions: 10
Worksheet time: 5mins
Which of the following is the most common cause of congenital hypothyroidism (CH)?
Thyroid dysgenesis
Thyroid hormone resistance
Iodine deficiency
Thyroid peroxidase deficiency
The most common form of thyroid dysgenesis is:
Thyroid agenesis
Ectopic thyroid
Hemigenesis
Hypoplastic thyroid
Which gene mutation is most commonly associated with thyroid dysgenesis?
TPO
NIS
PAX8
DUOX2
Which of the following is a feature of thyroid dyshormonogenesis?
Absent thyroid gland on USG
Normal or enlarged thyroid gland
Absent iodine uptake
Decreased perchlorate discharge
Which of the following enzyme defects is associated with positive perchlorate discharge test?
Thyroglobulin deficiency
Thyroid peroxidase deficiency
Dehalogenase deficiency
Iodide trapping defect
Newborn screening for congenital hypothyroidism is best done using:
Serum T3 and T4
Serum TSH
Cord blood TSH or dried blood spot (DBS) TSH
Serum TRH stimulation test
A TSH value >40 mU/L on newborn screening is interpreted as:
Normal
Borderline – repeat test
Positive – immediate confirmatory test
False positive
Classic features of untreated congenital hypothyroidism include all EXCEPT:
Macroglossia
Umbilical hernia
Large posterior fontanelle
Microcephaly
The initial dose of L-thyroxine in a neonate with CH is:
2–4 µg/kg/day
5–8 µg/kg/day
10–15 µg/kg/day
20 µg/kg/day
Which of the following statements about congenital hypothyroidism is TRUE?
It is rarely treatable.
Screening should be done after 1 month of age.
Early treatment prevents intellectual disability.
TSH estimation alone is sufficient for diagnosis.
