CONGENITAL HYPOTHYROIDISM.

DEPT CHILD HEALTH

UDAYANA UNIVERSITY

THYROID AXIS
Hypothalamus

TERTIER

TRH
SECONDARY
TSH
Thyroid

T3 T4

PRIMARY

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 Graves 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
Respiratory
Obstruction due to large
tongue
Apnea
GI
Constipation
Large abdomen with
umbilical hernia
CV
Bradycardia
Murmur
Cardiomegaly

Heme
Prolonged physiologic
jaundice
anemia
Neuro
Large HC relative to weight
and length
Poor po in 1st mo post birth
Temperature instability
Edema
Cool, mottled skin

Progression
3-6 mo old full
spectrum developed
Physical and mental
delay
Stunted growth
Short extremities
Large, open anterior
and posterior
fontanelles

Swollen eyes
Thickened, broad
tongue
Dry, scaly skin
Coarse, brittle hair
Low hairline on
forehead
Hypotonia
Delayed milestones

Clinical symptom
Clinical feature
Umbilical hernia
Open fontanels
Dry skin
Prolonged jaundice >3 days
Kutis marmorata
Delayed speech

%
50
46,7
40
20
13,3
10

Physical features

Official Diagnosis
Metabolic screen
T4
TSH (if T4 low)

Low serum levels of T4

TSH high if thyroid defect

X-ray findings

Remember your feedback

mechanisms!

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 80U/ml
normalize within 24 hrs to first week of life (<
10U/ml)
increases T3 & T4 serum
can reach hyperthyroid values
decrease over several weeks

HYPOTHYROID
TYPE
TYPE

Primary
Primary
Secondary
Secondary
Tertier
Tertier

T4
T4 TSH
TSH PREVALENCE
PREVALENCE

1:4000
1:4000

1:100000
1:100000

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 g/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