Congenital Hypothyroidism

Skrening genetik
Etiology
85 % of cases are sporadic, due to thyroid
dysgenesis ( ectopic thyroid tissue is more
common than thyroid aplasia or hypoplasia )
15 % of cases are due to hereditary defects in
thyroid hormon synthesis
Transient hypothyrodime of the new born may
be due to maternal thyroid blocking antibodies
that cross in placenta , maternal use of
antithyroid drugs,or maternal iodine ingestion
Epidemiology
1 / 4.000 live births
Girl are affected twice as often as boys
Sign / Symptoms
Sign and symptoms may attributed to other
disordes because they tend to be non spesific
and may be minimal or absent in the new born
period
Open fontanel and widely open sutures
Umbilical hernia in large infants
Prolonged jaundice ( 7 days )
Constipation , hypotonia , hoarse cry , feeding
and sucking difficulties , excessive sleepinees ,
dry skin .

Diagnosis
Majority of cases are diagnosed through
mandated state screening programs
Thyroid function studies
Thyroid imaging
Initial evaluatin should be completed in 2
5 days to avoid long term sequale
Central hypothyroidism may present with
normal thyroid / TSH concentration
Differential Dx
Dysmorphogenesis chromosomal
syndrome
Congenital infections
Intrauterine drug exposure
Intestinal obstruction
Physiological jaundice
CNS damage
Congenital myopathies
Treatment
Treatment with L thyroxine
Begin treatment as soon as diagnosis is
confirmed
Dose is 10 15 U / kg / day ( this is 19 times
the adilt dose it is important to raise thyroid
concentration rapidly )
Delay in treatment may increase mental
damage
Therapeutic monitoring :
Monitoring T4 and TSH every 1 2 months
during the first year , then every 2 3 monyhs
in 1 -2 years
Keep serum thyroid consentration in the upper
half of normal range , and TSH in normal
range
Maintain normal growth and development but
avoid overtreatment
Presumed cases of transient hypothyroidism of
the newborn may not need to be treated ;
begin treatment only if low serum T 4 and
elevated TSH persist
Prognosis / Clinical course
Withoit early replacement therapy , neurologic
sequelae will results :
Mental retardation is usually avoided with early
hormon replacement
The earlier the replacement therapy is initiated ,
the better the prognosis
Even this treatment , subtler psychomotor
dysfunction , such as learning abilities , may still
occur
Creatinism is an older term for untreated
patients