dr. Kurniawati Arifah, M.Sc., Sp.

A
 Thyroid
hormone
 Feedback
mechanism
Normal thyroid fx primary hypothyroid secondary hypothyroid

Normal TSH TSH ↑ ↑ Low TSH & T4

 Is thyroid hormone deficiency present at birth.
 Causes mental and growth retardation
 Can be detected shortly after birth by newborn
screening
 Can be simply, effectively and inexpensively
treated
 If identified and treated early can be completely
managed so that there are few mental or physical
handicaps and patients are productive members of
society
Newborns with congenital hypothyroidism  may have few or no
clinical manifestations of thyroid deficiency (95%)

Clinically diagnosed:
• 10% 1 month old
• 35% 3 months old
• 70% 12 months old
• most : 3-4 years old

Celia I. Kaye and the Committee on Genetics. Pediatrics 2006; 118:e934-e963

 Because newborns are asymptomatic at birth, screening
programs developed worldwide
 One of the commonest treatable causes of mental
retardation
 The longer the condition goes undetected, the lower the
IQ
 1st step: measure TSH at age 3-5 days
 SREENING ALGORYTHM
Screening
TSH
o <20 mU/L: normal
o >20 mU/L : recall – confirm fT4+TSHs
o > 40 mU/L : permanent congenital
TSH <20 TSH >20 hypothyroid  treat & confirm
fT4+TSHs

Normal: Confirmation
Stop fT4 + TSHs
(Léger J. ESPE Consensus
Guidelines. 2014)