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Congenital Hypothyroidism

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Congenital Hypothyroidism

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Congenital Hypothyroidism

Present-from-birth Hippo-thigh-droid
sesanch1
12 KEY FACTS
ETIOLOGY
Thyroid Hypoplasia
Thigh-droid Hippo-plates

Congenital hypothyroidism is commonly acquired sporadically, most often due to thyroid hypoplasia, dysplasia, or aplasia. Less commonly, it can be due to maternal antithyroid antibodies, goiter, peripheral resistance, and iodine deficiency.

ASSESSMENT
Asymptomatic
Thumbs-up

Congenital hypothyroidism is often asymptomatic at birth as the placenta was previously supplying maternal thyroid (T4) hormones.

7PS
Pot-Bellied
Cooking Pot on Belly

If the neonate is symptomatic, then the 7Ps of congenital hypothyroidism can involve the neonate being Pot-bellied, Pale, Puffy-faced, Protruding umbilicus, Protuberant tongue, Poor brain development, and Prolonged neonatal jaundice.

Pale
Pail

If the neonate is symptomatic, then the 7Ps of congenital hypothyroidism can involve the neonate being Pot-bellied, Pale, Puffy-faced, Protruding umbilicus, Protuberant tongue, Poor brain development, and Prolonged neonatal jaundice.

Puffy-Faced
Puffy-coat Face

If the neonate is symptomatic, then the 7Ps of congenital hypothyroidism can involve the neonate being Pot-bellied, Pale, Puffy-faced, Protruding umbilicus, Protuberant tongue, Poor brain development, and Prolonged neonatal jaundice.

Protruding Umbilicus
Protruding Umbrella

If the neonate is symptomatic, then the 7Ps of congenital hypothyroidism can involve the neonate being Pot-bellied, Pale, Puffy-faced, Protruding umbilicus, Protuberant tongue, Poor brain development, and Prolonged neonatal jaundice.

Protuberant Tongue
Protruding Tongue

If the neonate is symptomatic, then the 7Ps of congenital hypothyroidism can involve the neonate being Pot-bellied, Pale, Puffy-faced, Protruding umbilicus, Protuberant tongue, Poor brain development, and Prolonged neonatal jaundice.

Poor Brain Development
Poor Brain Developing-Child

If the neonate is symptomatic, then the 7Ps of congenital hypothyroidism can involve the neonate being Pot-bellied, Pale, Puffy-faced, Protruding umbilicus, Protuberant tongue, Poor brain development, and Prolonged neonatal jaundice.

Prolonged Neonatal Jaundice
Prolonged Newborn Jaundice-janitor

If the neonate is symptomatic, then the 7Ps of congenital hypothyroidism can involve the neonate being Pot-bellied, Pale, Puffy-faced, Protruding umbilicus, Protuberant tongue, Poor brain development, and Prolonged neonatal jaundice.

DIAGNOSIS
Neonatal Screening
Neon-baby and Screen-door

As most neonates are asymptomatic in congenital hypothyroidism, it becomes important to rely on neonatal screening within the first 24-48 hours. TSH levels are measured, and if congenital hypothyroidism is diagnosed and addressed early, then therapy can be initiated and irreversible brain disabilities potentially avoided.

Increased TSH
Up-arrow Tissue-box

Neonatal screening to evaluate TSH levels is performed within the first 24-48 hours after birth. Elevated levels of TSH can indicate congenital hypothyroidism.

TREATMENT
Lifelong Replacement Hormone
Lifelong-commitment Harmonica

Congenital hypothyroidism involves the lifelong replacement of thyroid hormone with optimal normalization within 2-3 weeks in order to protect the brain from substantial damage.

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