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2017, Number 5

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Rev Mex Pediatr 2017; 84 (5)

Update on congenital hypothyroidism: definition, epidemiology, embryology, physiology. Part one

Rivera-Hernández A, Huerta-Martínez H, Centeno-Navarrete Y, Flores-Escamilla R, Zurita-Cruz JN

Language: Spanish
References: 31
Page: 204-209
PDF size: 267.15 Kb.


ABSTRACT

Congenital hypothyroidism (CH) results from the deficit of thyroid hormones (TH) caused by an alteration in the development of the thyroid gland (dysgenesis), synthesis of HT (dyshormonogenesis), intracellular transport to target cells, or action of HT (resistance to thyroid hormones), since birth. Based on its genetics it is classified as sporadic or hereditary; by its anatomical location could be divided in primary, central and peripheral. In 85% of the cases the CH is sporadic and the others are considered hereditary. In Mexico, the incidence reported is 1 of every 1,950 newborns, with predominance in females. The thyroid primordium is identified at first month of gestation and it has an endodermal origin and its development depends on specific transcription factors. In utero, the thyroid gland produces thyroxine since 11th week. There is a peak of TSH secretion at birth, because TH are thermogenic. The thyroid stimulating hormone is normalized 24 hours after birth. HT circulate bound to thyroxine transport globulin, then, they are internalized into the cytoplasm of target cells by transporters and metabolized to triiodothyronine by deiodinases, and finally they are translocated to the nucleus to bind to specific nuclear receptors, where they exert their biological effects both genomic and non-genomic. HT have metabolic action in almost all systems in the body and are essential for neurodevelopment since fetal period to the first 3 years of life; if there is a deficiency in these stages it would cause mental retardation and irreversible psychomotor development.


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