Abstract
A-3-year- old Bangladeshi pediatric patient named Tasin was presented with a diagnosed case of congenital hypothyroidism (CH). This type of hypothyroidism may occur due to the alteration in the nucleotide sequences of the Thyroid transcription factor 2 gene. Few studies are present on the genetic basis of this disease. CH is common in Bangladesh, may be due to geographical variation or other causes. Therefore, this study was conducted to identify whether there was any genetic alteration in the exon2 of Thyroid transcription factor 2 gene.
 With due procedure and permission from the guardian of the pediatric patient, socio-demographic data was collected. Isolation of DNA, quantitation and qualitation of DNA was ensured, polymerase chain reaction (PCR) was performed, the amplicons that was obtained from PCR; validated visually by gel electrophoresis methods; cycle sequencing was performed by Sanger sequencing. The chromatogram data that was obtained from Sanger sequencing was analyzed and compared with the National Center for Biotechnology Information database by Basic Local Alignment Search Tool search. Sanger sequencing revealed substitution (c.1051G>T) in the Sequence Tagged Site of the exon2 of Thyroid transcription factor 2 gene and this is new variants and not reported in National Center for Biotechnology Information database.
Highlights
The global frequency of Congenital hypothyroidism is 1 in 3000-4000 whereas a pilot study in Bangladesh reported an incidence rate of 1 in 1300 [1]
congenital hypothyroidism (CH) may be defined as the elevated levels of Thyroid Stimulating Hormone (TSH) at birth [3]
Some infants with CH are asymptomatic at birth, even when there is complete agenesis of thyroid gland, some presents with several problems within few weeks of birth [4]
Summary
The global frequency of Congenital hypothyroidism is 1 in 3000-4000 whereas a pilot study in Bangladesh reported an incidence rate of 1 in 1300 [1]. TSH level more than 20 mlU/L at less than 2 weeks of age or S. TSH level more than 10 ml/U after 2 weeks of age [2]
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