The Characteristics of Infants with Congenital Hypothyroidism Detected Through Neonatal

Screening

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

Reference Center for Neonatal Screening , School of Medicine, Universitas Padjadjaran,Dr. Hasan Sadikin,Bandung,Indonesia

Background

• The longer thyroid replacement therapy delayed postnatally in infants with congenital hypothyroidism (CH), the more serious is the mental prognosis

R. MacFaul, and D.B.Grant. Arch Dis Child.1977;52:87-88 • Newborn screening is effective in early detection of CH, and

has become routine in essentially all developed countries

Committee of the American Thyroid Association. J Pediatr .1976;89:692 • In Indonesia neonatal screening for CH is not yet a

nationwide program, most CH patients were delayed diagnosed Severe mental retardation

Objective

To describe the characteristics of infants with CH– Clinical features at diagnosis– TSH and T4 values– Underlying causes– Days from birth to the start of

treatment

Methods

Primary Hypothyroidism

Elevated serum TSH and a low free T4 or total T4

Serum TSH and FT4 or total T4

TSH cut-off value 20 mU/L

TSH measurement by FIA

Onto blood collection paper (the Whatman 903)

Specimens taken by heel prick or by venipuncture

Infants born in 12 hospitals in Bandung

Specimen collection

Methods

• Serum TSH > 10 mU/L with serum Free T4 (FT4) < 0.6 ng/dL confirmed CH

• Before treatment, perform thyroid scan using Tc 99m

• Thyroid ultrasonography was performed when necessary.

• Data was analyzed using SPSS 17.0

Results• From 2002 to 2010, 130,725 infants had been screened

for CH. • Congenital hypothyroidism was confirmed in 36 infants,

15 baby boys, 21 girls• Primary TSH : Means 148.67 (108.45 ± 100,38)• Serum Quantitative FT4 : Means 0.29. median 0.30 (± 0.15)

Table 1.Characteritics of detected CH, sex, birth weight, TSH and FT4 values, and days from birth to treatment

Characteristic Mean Median SD Range N

Sex•Male•Female

1521

Birth Weight (gram)

3344.55 3400 402.85 2500-4250 36

Primary TSH (mU/L)

148.67 108.45 100.38 48.10-440.00 36

TSH Confirmatory* 42.60 108.00 1232.00 00 33

FT4 (ng/dL) 0.29 0.30 0.15 0.10-0,60 36

Days from birth to treatmentherapy

20.75 16.50 12.89 7.00-56.00 36

Note.Three samples of confirmatory TSH > 100,000, could not be analyzed

Table 2.Characteristics 36 CH infants with respect to type of thyroid abnormalities, and TSH, FT4 values

Ectopic Athyreosis Hypoplasia Hemiagenesis

Normally Sited Gland (N=5)

N/AN=2

N= 11 N = 13 N = 4 TransientN = 2

DSN = 3

TSH(mU/L):MeanMedianSDRange

141.59126.6044.8892.00-223.00

773.3689.602133.6942.00-7200.00

119.4079.6078.6568.60-210.00 126.60

73.0073.007.0768.00-78.00

104.8786.4041.3276.00-152.20

158.00158.0073.53106.00-210.00

FT4(NG/DL):MeanMedianSDRange

0.320.400.160.10-0.60

0.240.220.120.10-0.40

0.420.450.170.20-0.60 0.10

0.350.350.070.30-0.40

0.230.200.150.10-0.14

0.400.400.140.30-0.50

Table 3.Prevalence of individual symptoms of hypothyroidism at the time of diagnosis

Features Listed Number of infant Percent

Prolonged Jaudice 10 27.7

Feeding difficulties 4 11.1

Lethargy 6 16.7

Umbilical hernia 8 22.2

Macroglosia 4 11.1

Constipation 6 16.7

Cold or mottled skin 2 5.6

Hypothermia 3 8.3

No symptoms 10 27.7

•Edema 1

•Hypothyroid Appearance

2

Hypotonia 5

Discussion• CH is one of the most preventable causes of mental

retardation MacFault, Grant DB.Arch Dis Child.1977;52:87-88

• The incidence worldwide : 1 in 3000 to 1 in 4000

Fisher DA. J Pediatr 1983;102(5):653-54

• Two thirds of the causes is thyroid dysgenesis, female to male ratio 2 :1

Castonet M etal.J Clin EndocinMetab.2001;86(s):2009-2014

• Age of onset of treatment, starting L-T4 dose,and severity of CH each plays an important role in neurocognitive outcome

Rastogi MV, and LaFranchi SH.http//www.ojrd.com/content/5/1/17

Discussion

• In our study the incidence of Ch was 1 in 3632. • 80% of the underlying cause is thyroid dysgenesis, with female to male ratio’ 1.6 : 1• We found two siblings,and one of the twin birth• Mean days of the onset of treatment is 20.75• Main symptoms prolonged jaundice, lethargy, and

umbilical hernia

•

Conclusion

As the main etiology is thyroid dysgenesis – >required longlife treatment.good

compliance,and longterm follow up• The birth prevalence of congenital

hypothyroidism 1 in 3632,It is in the range of global incidene

• If it was projected to 5 million annual births yearly in Indonesia, more than 1300 infants with CH will be born yearly

neonatal screening is important for better quality of llife

future generation