Diffential diagnostics and genealogical features of congential hypothyroidism in childrens
https://doi.org/10.14341/ket20073132-37
Abstract
Congenital hypothyroidism (CH) being one of the most frequent thyroid disorder among children is etiologically heterogeneous. In this study various etiological forms of primary CH (ectopic thyroid gland, athyreosis, hypoplasia, dyshormonogenesis) were established by diagnostical algorithm. Complex approach with estimation of thyroid ultrasonography and scintigraphy (Tc-99m) data and the level of serum thyroglobulin allowed to differentiate ectopic thyroid gland and athyreosis. In the cases of eutopic gland additional examination was necessary. The most severe clinical symptoms and laboratory changes together with the lowest level of thyroglobulin were associated with agenesis. That could optimize the diagnostic approach. High occurrence of extrathyroidal congenital malformations was revealed in patients with ectopic gland and athyreosis and in their relatives. That could indicate that genetic factors influence on the forming of thyroidal dysgenesis.
References
1. Врожденный гипотиреоз у детей. Неонатальный скрининг, диагностика, лечение: Пособие для врачей // Под ред. И.И. Дедова. М., 2006.
2. Шилин Д.Е., Швора Н.М., Пыков М.И. и др. Нозологическая верификация вариантов первичного врожденного гипотиреоза. Скрининг врожденного гипотиреоза в Российской Федерации // Опыт, проблемы, пути оптимизации. М., 2005. С. 116-125
3. Сумина М.Г., Никитина Н.В., Ворошнин В.В. Неонатальный скрининг на врожденный гипотиреоз в Свердловской области. Медицинская генетика // Материалы V съезда Российского общества медицинских генетиков. Ч. III. 2005. № 6.
4. Marinovic D., Garel C., Czernichow P., Leger J. Additional phenotypic abnormalities with presence of cysts within the empty thyroid area in patients with congenital hypothyroidism with thyroid dysgenesis // J. Clin. Endocrinol. Metab. 2003. V. 88. N 3. P. 1212-1216.
5. Devos H., Rodd C., Gagne N. et al. A search for the possible molecular mechanisms of thyroid dysgenesis: sex ratios and associated malformations // J. Clin. Endocrinol. Metab. 2001. V. 84. N 7. P. 2502-2506
6. Meeus L., Gilbert B., Rydlewski C. et al. Characterization of a novel loss of function mutation of PAX8 in a familial case of congenital hypothyroidism with in-place, normal-sized thyroid // J. Clin. Endocrinol. Metab. 2004. V. 89. N 9. P. 4285-4291.
7. Kopp P. Perspective: Genetic Defects in the etiology of congenital hypothyroidism // Endocrinol. 2002. N 143(6). Р. 2019-2024.
8. Lazarus J.H. Congenital hypothyroidism // Arch. Dis. Child. 2005. N 90. Р 112-113.
9. De Felice M., Di Lauro R. Thyroid development and its disorders: genetics and molecular mechanusms // Endocrine Reviews. 2004. V. 25. N 5. Р. 722-746.
10. Castanet M., Polak M., Bonaiti-Pellie C. et al. Nineteen Years of National Screening for Congenital Hypothyroidism: Familial Cases with Thyroid Dysgenesis Suggest the Involvement of Genetic Factors // J. Clin. Endocrinol. Metab. 2001. V. 86. N 5. P. 2009-2014.
11. Park S.M., Chatterjee V.K.K. Genetics of congenital hypothyroidism // J. Med. Genet. 2005. N 42. Р. 379-389.
12. Pohlenz J., Dumitrescu A., Zundel D. et al. Partial deficiency of thyroid transcription factor 1 produces predominantly neurological defects in humans and mice // J. Clin. Invest. 2002. N 109(4). Р. 451-455.
13. Roberts H.E., Moore C.A., Fernhoff P.M. et al. Population Study of Congenital Hypothyroidism and associated Birth Defects, Atlanta, 1979-1992 // Am. J. Med. Genet. 1997. V.71(1). P.29-32.
14. Hanukoglu A., Perlman K., Shamis I. et al. Relationship of etiology to treatment in congenital hypothyroidism // J. Clin. Endocrinol. Metab. 2001. V. 86. N 1. P. 186-191.
15. Leger J., Marinovic D., Garel C. et al. Thyroid developmental anomalies in first degree relatives of children with congenital hypothyroidism // J. Clin. Endocrinol. Metab. 2002. N 87(2). P. 575-580.
16. Djemli A., Fillion M., Belgoudi J. et al. Twenty years later: a reevaluatuon of the contribution of plasma thyroglobulin to the diagnosis of thyroid dysgenesis in infants with congenital hypothyroidism // Clin. Biochem. 2004. N 37(9). Р. 818-822.
17. de Vijlder J.J.M., Ris-Stalpers C., Vulsma T. On the origin of circulating thyroglobulin // Eur. J. Endocrinol. 1999. N 140. Р. 7-8.
Review
For citations:
, , Diffential diagnostics and genealogical features of congential hypothyroidism in childrens. Clinical and experimental thyroidology. 2007;3(1):32-37. (In Russ.) https://doi.org/10.14341/ket20073132-37
Views:
2300
This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND 4.0).
Email this article 
