Congenital

Hypothyroidism
Congenital hypothyroidism: Overview

 Thyroid hormone deficiency at birth1

 Most common neonatal metabolic disorder2
 Most common preventable cause of mental retardation3
Congenital hypothyroidism:
Epidemiology
 1:4000 new borns1
 Female to male ratio 1:11
 Higher incidence in patients with Down’s syndrome2
Sign
Myxoedematous facies
large fontanels
macroglossia
cold or mottled skin
distended abdomen with umbilical hernia
bradycardia
hypotonia and decreased reflexes.
One-third of patients birth weight >90th percentile
Clinical manifestations

 Most patients being asymptomatic

 Symptoms:
 Decreased activity
increased sleep
feeding difficulty
constipation
hoarse cry
prolonged jaundice
ETIOLOGY
DYSGENESIS AND APLASIA OF THYROID GLAND (90 % OF CASES)

ECTOPIC THYROID GLAND

INBORN DEFECT OF THYROXXINE SYNTHESIS

RESISTANCE TO THYROXINE

TRH AND TSH DEFENCENCIES

IODINE DEFENCIES

IDIOPATHIC
INVESTIGATION
THYROID FUNCTION TEST

XRAYS

THYROID SCAN
Serum tests of thyroid function

 Reference ranges for thyroid function tests at ages 1 to 4 days and

2
to 4 weeks
Age Free T4 (pmol/L) Total T4 (nmol/L) TSH (mU/L)

1–4 days 25–64 129–283 <39

2–4 weeks 10–26 90–206 <10

Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis. 2010 Jun 10;5:17.
MANAGEMENT

THYROID HORMONE REPLACEMENT

THYROXINE IS GIVEN AS SINGLE DAILY ORAL DOSE

DOSE 10-15 mg/kg/day in new nate

4 microgram/kg/day in children