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The Characteristics of Infants with Congenital Hypothyroidism Detected Through Neonatal Screening

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

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The Characteristics of Infants with Congenital Hypothyroidism Detected Through Neonatal Screening

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  1. The Characteristics of Infants with Congenital Hypothyroidism Detected Through Neonatal Screening Diet S. Rustama, Elly R.Harahap Vidi Permatagalih, Hussein S. Kartamihardja Aris Primadi Reference Center for Neonatal Screening , School of Medicine, Universitas Padjadjaran,Dr. Hasan Sadikin,Bandung,Indonesia

  2. 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

  3. 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

  4. Methods

  5. Specimen collection

  6. 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

  7. 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)

  8. Table 1.Characteritics of detected CH, sex, birth weight, TSH and FT4 values, and days from birth to treatment Note.Three samples of confirmatory TSH > 100,000, could not be analyzed

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

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

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

  12. 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

  13. 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

  14. THANK YOU

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