Technetium-99 thyroid scan as an aid to diagnosis of congenital hypothyroidism with normal initial thyroid function test
DOI:
https://doi.org/10.18203/2349-3291.ijcp20251885Keywords:
Congenital hypothyroidism, Thyroid dysgenesis, Thyroid aplasia, Scintigraphy 99mTcAbstract
Congenital hypothyroidism (CH) occurs in 1:2,000 to 1:4,000 newborns, is often asymptomatic at birth, due to transplacental passage of maternal thyroid hormones and some thyroid production by the infant. CH is classified into permanent and transient forms, thyroid dysgenesis accounts for 85% while dyshormonogenesis 10-15% cases. CH is diagnosed through newborn screening, confirmation by elevated serum thyroid stimulating hormone (TSH) and low T4 or free T4 levels. Thyroid radionuclide uptake, thyroid sonography, serum thyroglobulin, help identify the underlying cause, although treatment may begin prior to these tests. Early diagnosis and treatment are crucial for preventing developmental delays and ensuring optimal growth and development in affected infants.
Metrics
References
De Felice M, Di Lauro R. Thyroid development and its disorders: genetics and molecular mechanisms. Endocr Rev. 2004;25(5):722-46. DOI: https://doi.org/10.1210/er.2003-0028
Agrawal P, Philip R, Saran S, Gutch M, Razi MS, Agroiya P, et al. Congenital hypothyroidism. Indian J Endocrinol Metab. 2015;19(2):221-7. DOI: https://doi.org/10.4103/2230-8210.131748
LaFranchi SH. Hypothyroidism. Pediatr Clin North Am. 1979;26(1):33-51. DOI: https://doi.org/10.1016/S0031-3955(16)33670-7
Kaplan SA. Clinical pediatric endocrinology. Philadelphia: Saunders. 1990.
Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis. 2010;5:17. DOI: https://doi.org/10.1186/1750-1172-5-17
Vulsma T, Gons MH, de Vijlder JJ. Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect or thyroid agenesis. N Engl J Med. 1989;321(1):13-6.
Vulsma T, Gons MH, de Vijlder JJ: Maternal-fetal transfer of thyroxine in congenital hypothyroidism due to a total organification defect or thyroid agenesis. N Engl J Med. 1989;321(1):13-6. DOI: https://doi.org/10.1056/NEJM198907063210103
Calvo R, Obregon MJ, de Ona Ruiz C, del Rey Escobar F, de Escobar Morreale G. Congenital hypothyroidism, as studied in rats. Crucial role of maternal thyroxine but not of 3,5,3’-triiodothyronine in the protection of the fetal brain. J Clin Invest. 1990;86(3):889-99. DOI: https://doi.org/10.1172/JCI114790
Delange F. Neonatal screening for congenital hypothyroidism: results and perspectives. Horm Res. 1997;48(2):51-61. DOI: https://doi.org/10.1159/000185485
LaFranchi SH, Murphey WH, Foley TP Jr, Larsen PR, Buist NR. Neonatal hypothyroidism detected by the Northwest Regional Screening Program. Pediatrics. 1979;63(2):180-91. DOI: https://doi.org/10.1542/peds.63.2.180
Schoen EJ, Clapp W, To TT, Fireman BH: The key role of newborn thyroid scintigraphy with isotopic iodide (123I) in defining and managing congenital hypothyroidism. Pediatrics. 2004;114(6):e683-8. DOI: https://doi.org/10.1542/peds.2004-0803
Castanet M, Polak M, Bonaiti-Pellie C, Lyonnet S, Czernichow P, Leger J. Nineteen years of national screening for congenital hypothyroidism: familial cases with thyroid dysgenesis suggest the involvement of genetic factors. J Clin Endocrinol Metab. 2001;86(5):2009-14. DOI: https://doi.org/10.1210/jcem.86.5.7501
De Felice M, Di Lauro R. Thyroid development and its disorders: genetics and molecular
Downloads
Published
How to Cite
Issue
Section
