Presentation is loading. Please wait.

Presentation is loading. Please wait.

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

Similar presentations


Presentation on theme: "The Characteristics of Infants with Congenital Hypothyroidism Detected Through Neonatal Screening Diet S. Rustama, Elly R.Harahap Vidi Permatagalih, Hussein."— Presentation transcript:

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 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

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 ( ± 100,38) Serum Quantitative FT4 : Means 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 CharacteristicMeanMedianSDRangeN Sex Male Female Birth Weight (gram) Primary TSH (mU/L) TSH Confirmatory* FT4 (ng/dL) ,6036 Days from birth to treatmentherapy 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 EctopicAthyreosisHypoplasiaHemiage nesis Normally Sited Gland (N=5) N/A N=2 N= 11N = 13N = 4Transient N = 2 DS N = 3 TSH(mU/L): Mean Median SD Range FT4(NG/DL): Mean Median SD Range

10 Table 3.Prevalence of individual symptoms of hypothyroidism at the time of diagnosis Features ListedNumber of infantPercent Prolonged Jaudice Feeding difficulties411.1 Lethargy616.7 Umbilical hernia Macroglosia411.1 Constipation616.7 Cold or mottled skin25.6 Hypothermia38.3 No symptoms Edema1 Hypothyroid Appearance 2 Hypotonia5

11 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): Two thirds of the causes is thyroid dysgenesis, female to male ratio 2 :1 Castonet M etal.J Clin EndocinMetab.2001;86(s): 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

12 Discussion In our study the incidence of Ch was 1 in % 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 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


Download ppt "The Characteristics of Infants with Congenital Hypothyroidism Detected Through Neonatal Screening Diet S. Rustama, Elly R.Harahap Vidi Permatagalih, Hussein."

Similar presentations


Ads by Google