Información del artículo
El pronóstico del hipotiroidismo congénito ha cambiado radicalmente desde la instauración en la mayoría de países de las unidades de cribado precoz y seguimiento de esta endocrinopatía. Sin embargo, sus factores etiológicos aún son poco conocidos.
En el hipotiroidismo congénito transitorio, las causas principales son, durante el parto, la sobrecarga yodada que puede experimentar el feto por pincelaciones antisépticas con povidona yodada y la vía materna, y en el período de recién nacido (fenómeno de Wolf-Chaikoff), la inmadurez del sistema hipotálamo-hipofisario que condiciona una deficiencia de funcionalismo del tiroides del prematuro, más aun si se trata de un prematuro patológico, y una relativa deficiencia de yodo en las fórmulas de la leche.
En el hipotiroidismo congénito definitivo las principales etiologías son las mutaciones que ocurren en los factores de transcripción y en el complejo enzimático preciso para la formación de hormonas tiroideas (dishormonogénesis).
Hoy se conocen una serie de factores de transcripción: FOXE I (TITF 2), NK X2.1 (TITF 1), PAX 8 y Shh (en ratones) cuyas mutaciones son causa de las disgenesias tiroideas, aunque expliquen sólo un pequeño porcentaje de ellas.
Dentro de las dishormonogénesis están bien estudiadas las mutaciones de la mayoría de los trastornos enzimáticos que ocurren tanto en el borde basocelular como en el apical del tirocito, y que ocasionan un hipotiroidismo congénito con glándula normosituada.
El hipotiroidismo congénito definitivo ha pasado de ser considerado como una simple embriopatía o malformación a una entidad de gran interés en los estudios de biología molecular para conocer el entramado de genes que son precisos para el normal funcionamiento de la glándula.
Palabras clave:
Hipotiroidismo congénito
Potiroidismo congénito transitorio
Hipotiroidismo congénito definitivo
Dishormonogénesis
In most countries the prognosis of congenital hypothyroidism (CH) has changed dramatically since the introduction of units for the early screening and follow-up of this endocrine disorder.
However, the etiological factors involved have not yet been well characterized.
In transitory CH the main causes are iodine overload in the fetus due to antiseptic brushing with povidone-iodine, maternal transfer during delivery and in the neonatal period (the Wolf-Chaikoff effect), immaturity of the hypothalamus-pituitary system leading to thyroid function deficiency in premature infants, especially if abnormalities are present, and a relative deficiency of iodine in formula milk.
In definitive CH the main etiological factors are mutations in transcription factors and in the enzyme complex required for the formation of thyroid hormones (dyshormonogenesis). Currently, a series of transcription factors are known – FOXE I (TITF 2), NK X2.1 (TITF 1), PAX 8 and Shh (in mice) – whose mutations give rise to thyroid dysgenesis, although these mutations explain only a small percentage of them. Within dyshormonogenesis, mutations of most of the enzyme disorders that occur both in the basal and apical borders of thyroid cells and that cause CH in normally located glands are well known.
Definitive CH is no longer considered a simple embryo disorder or malformation and is currently of great interest in molecular biology to determine the network of genes required for normal thyroid function.
Key words:
Congenital hypothyroidism
Transitory congenital hypothyroidism
Definitive congenital hypothyroidism
Dyshormonogenesis
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