CONGENITAL HYPOTHYROIDISM

Hypothyroidism

• Definition: It is a clinical condition arising from

deficient production or deficient receptor
activity of thyroid hormones.
 Aetiology:

A. Congenital:
1. Defect in thyroid gland development: Agenesis,
hypoplasia, ectopia, dysgenesis
2. Defect in thyroid hormone synthesis
3. Defect in thyroid hormone transport
4. Transplacental maternal thyrotropin receptor
blocking antibody
5. Insensitivity of tissue receptors to thyroid
hormone
 Aetiology
B. Acquired:
1. Autoimmune thyroiditis
2. Endemic iodine deficiency
3. Exposure to goitrogen
4. Irradiation or surgery to thyroid gland.

Ectopic thyroid: Lingual, sublingual &subhyoid

 Congenital Hypothyroidism
• Prevalence: 1/4000
birth
• Male: Female: 1:2
 Clinical Features (Symptoms)
Older child:
Neonatal period:
• Short stature
• Delayed passage of
• Harsh, hoarse voice
meconium
• Prolonged Jaundice • Developmental delay
• Refractory constipation • Mental retardation
• Little cry, somnolence,
excessive sleepy (“Good
babies”)
• Feeding difficulties,
choking attacks
 C/F (Signs)
• Appearance: Apathetic, dull
looking, coarse facies • Abdomen: Protruded,
umbilical hernia
• Head: Apparently ↑head
size, wide open fontanel, • Hands: Short, broad & stubby
thickened scalp • Muscles: Hypotonic, delayed
• Eyes: Swollen eyelids, response of ankle jerk
narrow palpebral fissrues • Heart: Low pulse, pericardial
• Tongue: Broad, protruded effusion
• Anthropometry:
• Dentition: Delayed
• LAZ: stunted
• Neck: Short , thick,
myxematous • US:LS: infantile
• Skin: Dry, thick, cold,
mottled
 Investigations
• Serum FT4 level: low
• Serum TSH: High
• USG of thyroid gland: Agenesis, location of
gland
• Thyroid Scan: Radio-active thyroid scan to
detect ectopia, hypoplasia, aplasia.
• Skeletal survey: Delayed bone age, epiphyseal
dysgenesis, beaking of vertebrae
Radiological Findings
 Treatment
• Counseling of parents
• Drugs: Sodium L Thyroxin
• Dose: Neonate: 10-15µgm/day
• Beyond neonatal period: 4µgm/day
• Adult: 2 µgm/day
• Single morning dose in empty stomach
• Duration: Life-long
 Follow-Up
Schedule:
1. At 2&4 weeks after initiation of Rx.
2. Every 1 to 2 months during 1st 6months of life.
3. Every 3-4 months during 6mon-3yrs.
4. Every 6-12months until growth is complete.
Clinical parameter:
Regular bowel movement, body weight, pulse
rate, height, skin change, voice change
 Prognosis

• Early initiation of Rx within 1st weeks of life:

Excellent prognosis with intellectual achievement.

• Delay to start treatment by 2 months cause mental

retardation.
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