Abstract 10th Asia and Oceania Thyroid Association (AOTA) Congress 2012

The characteristics of infants with congenital hypothyroidism detected

through neonatal screening

Diet S. Rustama, Vidi Permatagalih, Elly R.Harahap, Hussein S. Kartamihardja Aris Primadi

Reference Center for Neonatal Screening

School of Medicine Padjadjaran University
Hasan Sadikin Hospital, Bandung, Indonesia

Background. Congenital hypothyroidism (CH) is one of the most common causes of mental retardation The
clinical features of this disorder are often subtle and many newborn infants remain undiagnosed at birth.
Early detection of congenital hypothyroidism through neonatal screening enable early diagnosis and
treatment of severe primary CH, and has resulted in a normal development in the most majority of cases. In
Indonesia neonatal screenig for CH is not yet a nationwide program, therefore most patients with CH were
delayed diagnosed and suffered from mental retardation A local study of neonatal screening for CH is
needed to investigate the magnitude of the problems
Objectives. The purpose of this observational study was to describe the characteristics of infants with CH
regarding the clinical features at diagnosis, TSH and T4 values, the underlying causes, and days from birth
to the start of treatment
Methods. Patients were infants born in 12 hospitals in Bandung city. Blood were collected by heel prick or
by venipuncture from dorsal hand vein onto specimen collection paper. From year 2001 to 2008,
radioimmuoassay (RIA) was used for primary TSH measurement, and from 2008 fluoroimmunoassay.(FIA).
The cutoff value of TSH was 20mU/L. When primary TSH result was elevated, serum TSH and FT4 or total
T4 must be obtained to confirm the diagnosis. The finding of an elevated serum TSH and a low free T4 or
total T4 confirms the diagnosis of primary hypothyroidism. Before starting levothyroxine treatment thyroid
scan using pertechnetate 99mT and thyroid ultrasound when necessary were performed to identify functional
thyroid tissue
Results. In this study 130,735 have been screened for CH., 36 infants, 16 boys and 20 girls were cofirmed
to have primary congenital hypothyroidism. Mean primary TSH value was 148.67 mU/L. Mean serum
confirmatory TSH values in 29 infants was 361.13 mU/l.while 4 specimens had TSH > 200 mU/L and 3 had
TSH > 100,000 mU/L. Mean FT4 was 0.31 ng/dL. The most common (75%) cause was disorders of thyroid
gland development (dysgenesis), and 2.8% was suspected of having dyshormonogenesis. The most common
signs at diagnosis were umbilical hernia, mottled skin, and macroglossis, and 18 infants showed no
symptom(s) Time from birth to diagnosis/ starting treatment was 20.8 days (range : 7 – 56 days). Two
infants had transient congenital hypothyroidism.
Discussion. From this study the birth prevalence of congenital hypothyroidism was 1 in 3632 babies. The
worldwide prevalence is 1 : 3000 t0 4000. We found that two-thirds of primary congenital hypothyroidism
were permanent, due to thyroid dysgenesis. The time from birth to treatment was more than two weeks

Conclusion. Most of primary CH in this study were due to thyroid dysgenesis who required longlife
treatment, need compliance, and longterm follow-up.. . For optimal outcome further efforts should be made
to facilitate treatment within two weeks after birth