CONGENITAL HYPOTHYROIDISM.

DEPT CHILD HEALTH

UDAYANA UNIVERSITY
 THYROID AXIS
Hypothalamus TERTIER

TRH

SECONDARY
TSH
Thyroid
PRIMARY

T3 T4
 Congenital Hypothyroidism
• If severe
– Symptoms present in first weeks of life
• If mild – moderate
– Presentation may be months post birth
• Numerous etiologies
 Etiologies of CH (1)
• Primary Hypothyroidism
– Permanent 1:3800 - 4000
– Transient 1: 50000 (N America)
1: 200 - 8000 (Europe)
• Hypothalamic-Pituitary Hypothyroidism
1:50000 - 100000
– Permanent
– Transient
 Etiologies of CH (2)
A.Permanent Primary Hypothyroidism
1.Thyroid dysgenesis (80-90%)
a.Aplasia / Hypoplasia
b.Ectopic gland
2.Dyshormonogenesis (5-10%)
3.Maternal radioactve iodine treatment
4.Associated with the nephrotic syndrome
 Etiologies of CH (3)
B. Transient Primary Hypothyroidism
1.Maternal Grave’s disease and transplacental passage of
antithyroid drugs
2.Maternal iodine deficiency
3.Iodine exposure of the fetus / newborn
4.Maternal transfer of TSHr-AB (1:180000)
 Etiologies of CH (4)
C.Permanent Hypothalamic-Pituitary
Hypothyroidism
1.Congenital midline brain development defects
2.Birth trauma or asphyxia with pituitary stalk transection
3.Congenital pituitary aplasia
 Epidemiology

• 1 in 4,000 affected
• Girls > Boys affected
• 90% of cases are due to abnormal development of the
thyroid gland itself
– Dysplasia
– Aplasia
• Most infants are asymptomatic at birth
– Thought to be due to presence of maternal hormone
• Provides for 33% of normal fetal levels
 Presentation
• Asymptomatic
• Heme
• Respiratory
– Prolonged physiologic
– Obstruction due to large jaundice
tongue
– anemia
– Apnea
• Neuro
• GI
– Large HC relative to weight
– Constipation and length
– Large abdomen with – Poor po in 1st mo post birth
umbilical hernia
• Temperature instability
• CV
• Edema
– Bradycardia
• Cool, mottled skin
– Murmur
– Cardiomegaly
 Progression
• 3-6 mo old – full • Swollen eyes
spectrum developed • Thickened, broad
• Physical and mental tongue
delay • Dry, scaly skin
• Stunted growth • Coarse, brittle hair
• Short extremities • Low hairline on
• Large, open anterior forehead
and posterior • Hypotonia
fontanelles • Delayed milestones
 Clinical symptom
Clinical feature %
Umbilical hernia 50
Open fontanels 46,7
Dry skin 40
Prolonged jaundice >3 days 20
Kutis marmorata 13,3
Delayed speech 10
Physical features
 Official Diagnosis
• Metabolic screen
– T4
– TSH (if T4 low)
• Low serum levels of T4
– TSH high – if thyroid defect Remember your feedback
mechanisms!
• X-ray findings
– Delayed osseous development for age in 60%
– Wide spaced skull sutures, large fontanels
 Neonatal thyroid physiology
• TSH surge
– first 30 minutes of life
– can reach 80mU/ml
– normalize within 24 hrs to first week of life (<
10mU/ml)
– increases T3 & T4 serum
• can reach hyperthyroid values
• decrease over several weeks
 HYPOTHYROID

TYPE T4 TSH PREVALENCE

Primary   1:4000

Secondary  
1:100000
Tertier  
 Prognosis/clinical course
• Without early therapy, neurologic sequeale will
result:
• - mental retardation
- Poor motor coordination
- Muscular hypotonia
- Ataxia
• The earlier the replacement therapy the better
prognosis
• Even with treatment, subtler psychomotor
dysfunction may still occur
 Treatment
Treatment with L-thyroxine
• Begin treatment as soon as diagnosis is
confirmed
• Dose is 10-15 μg/kg/day
• Delay treatment may increase mental
damage
THANK YOU
Screening Methods
 General principles
• Dried blood spot specimen, prick heel or
cord blood
• increase accuracy
– cut off point
– screening process
• Cut off point  guarantee
– high sensitivity and specificity
– high positive predictive value
 General principles
• - two stage process
– 1st step: detect as many as possible  expect
high false positive rate
– 2nd step:confirmation  sensitive and low
false negative
• best: simultaneous T4 and TSH
• 5 - 10 % of cases will be missed with any
methods