Harrison's Principles of Internal Medicine, 21st ed., Ch 383
Causes, Clinical Manifestations, and Laboratory Evaluation
Causes ● MCC: Iodine deficiency
Congenital Hypothyroidism
Prevalence ● Transient: if mother has TSH receptor-blocking antibodies or has received
antithyroid drugs
● Permanent: majority
● Causes:
○ Thyroid gland dysgenesis
○ Inborn errors of thyroid hormone synthesis
○ TSH-R antibody mediated
● F>M
, ● Transplacental passage of maternal thyroid hormone occurs before fetal thyroid
gland begins to function → provides partial hormone support to fetus with
congenital hypothy
Clinical ● Use of biochemical screening
Manifestations ● Features:
○ Prolonged jaundice
○ Feeding problems
○ Hypotonia
○ Enlarged tongue
○ Delayed bone maturation
○ Umbilical hernia
○ + typical adult manifestations of hypothy
○ + cardiac congenital malformations
● Permanent neurological damage if tx is delayed1