Abstract

Congenital hypothyroidism (CH) is the leading cause of preventable mental retardation. It is mainly due to thyroid dysgenesis or dyshormonogenesis with normally located gland, and detected at birth in developed countries by systematic neonatal screening. The early treatment of patients with CH has successfully improved the prognosis and management of this disease. An increase in the incidence of congenital hypothyroidism with a normally located gland has been reported worldwide over the last three decades. The etiology of CH with a normally located gland remains elusive and about half of them demonstrate spontaneous resolution of CH within a few months (transient CH). They highlight the need to reevaluate thyroid function during follow-up.

Highlights

  • It is mainly due to thyroid dysgenesis or dyshormonogenesis with normally located gland, and detected at birth in developed countries by systematic neonatal screening

  • Leger J, Ecosse E, Roussey M, et al Subtle health impairment and socioeducational attainment in young adult patients with congenital hypothyroidism diagnosed by neonatal screening : a longitudinal population-based cohort study

  • C’est à cette traversée historique et conceptuelle que nous convie cet ouvrage

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Summary

Méthodologie du dépistage

Organisation du dépistage systématique L’anomalie de la glande thyroïde entraîne une baisse du taux des hormones thyroïdiennes circulantes dès la période fœtale. Les premières tentatives de mise au point de systèmes de dépistage se sont naturellement portées sur le dosage de la thyroxine (ou T4). Cependant, la majorité des pays se sont tournés vers le dosage de la TSH.

Définition des seuils pour le dépistage
Hypoplasie de la thyroïde du lobe droit
Prise en charge des patients
Apport épidémiologique du dépistage
Conclusion
SUMMARY Neonatal screening for congenital hypothyroidism

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