Goiter may be present before birth in utero, at birth or detected at any age thereafter. The goiter may be caused by increased thyrotropin (TSH) secretion resulting from hypothyroidism; antibodies that activate TSH receptors (Graves disease) with increased thyroid hormone secretion; or TSH-independent processes, such as inflammation associated with autoimmune thyroiditis, benign and malignant tumors, and infiltrative disease.
The causes of goiter in fetuses, infants, children, and adults are similar, but their relative frequency varies substantially. In the United States and in Europe, for example, most children with a goiter have chronic autoimmune thyroiditis; whereas, among adults, nontoxic nodular goiters predominate. Goiter in neonates and infants will be more often due to dyshormogenesis whereas in older children and fetuses the major causes will be autoimmune disorders.
We will not cover all the etiologies but rather will focus on less known forms of goiter such as in fetuses where the therapeutic options may appear controversial. In pregnant women with past or current Graves disease, ultrasonography of the foetal thyroid gland by an experienced ultrasonographer is an excellent diagnostic tool that will inform of potential fetal thyroid dysfunction if a goiter is noticed; close teamwork among internists, endocrinologists and obstetricians, echographists and paediatrician, can ensure normal foetal and neonatal thyroid function. Some rare studies have confirmed the feasibility and safety of intrauterine L-thyroxine treatment for nonimmune fetal goitrous hypothyroidism when detected. Whether it allows goiter size reduction in the majority of cases, the effectiveness to reach euthyroidism at birth remains inadequate; monitoring of fetal thyroid function by amniocentesis was not adequate. In the latter situation, the risks to the foetus and the psychological burden on the parents should be factored into the risk to benefit evaluation.
The possibility of delayed detection of goiter due to congenital dyshormonogenesis rather than autoimmune goiter will also be pinpointed.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.