Transcript The Characteristics of Infants with Congenital Hypothyroidism

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
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
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–
Clinical features at diagnosis
TSH and T4 values
Underlying causes
Days from birth to the start of
treatment
Methods
Infants born in 12 hospitals in Bandung
Specimens taken by heel prick or by venipuncture
Onto blood collection paper (the Whatman 903)
TSH measurement by FIA
TSH cut-off value 20 mU/L
Serum TSH and FT4 or total T4
Elevated serum TSH and a low free T4 or total T4
Primary Hypothyroidism
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
Sex
• Male
• Female
N
15
21
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
Hemiage
nesis
Normally
Sited Gland (N=5)
N/A
N=2
N= 11
N = 13
N=4
Transient
N=2
DS
N=3
TSH(mU/L):
Mean
Median
SD
Range
141.59
126.60
44.88
92.00-223.00
773.36
89.60
2133.69
42.00-7200.00
119.40
79.60
78.65
68.60-210.00
126.60
73.00
73.00
7.07
68.00-78.00
104.87
86.40
41.32
76.00-152.20
158.00
158.00
73.53
106.00-210.00
FT4(NG/DL):
Mean
Median
SD
Range
0.32
0.40
0.16
0.10-0.60
0.24
0.22
0.12
0.10-0.40
0.42
0.45
0.17
0.20-0.60
0.10
0.35
0.35
0.07
0.30-0.40
0.23
0.20
0.15
0.10-0.14
0.40
0.40
0.14
0.30-0.50
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