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The Characteristics of Infants with Congenital Hypothyroidism Detected Through Neonatal Screening. Diet S. Rustama , Elly R.Harahap Vidi Permatagalih , Hussein S. Kartamihardja Aris Primadi - PowerPoint PPT Presentation
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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