Thyroid hormone resistance from newborns to adults: a Spanish experience

ConclusionsWe report the clinical and genetic characteristics of a Spanish RTH β cohort, from neonates to adults. We also describe one novel mutation in theTHRB gene as the cause of the disease. The simultaneous analysis of TSH and T4 carried out in the program for the screening of inborn errors of metabolism facilitates the early diagnosis of RTH β in newborns and has allowed us to estimate a minimum local incidence of RTH of 1/18,750 live newborns.

Source: Journal of Endocrinological Investigation - February 1, 2019 Category: Endocrinology Source Type: research