ESPE Abstracts

Background: Neonatal screening strategies revealed an increase in hypothyroidism associated with an in-situ thyroid gland due to TSH receptor (TSHR) mutations. While there are many genetic and functional studies regarding TSHR mutations, few are found concerning the clinical course and long-term outcome of TSH resistance involving the pediatric population.Objective and hypotheses: To determine the impact of TSHR mutations on clinical course, biochemical ...

Background: Congenital hypothyroidism (CH) is a heterogeneous disorder. While the great majority of cases are considered sporadic, the use of next generation sequencing (NGS) may bring significant advances in elucidating the underlying molecular mechanisms.Case presentation: We selected a family with three children affected by CH with gland in situ and diagnosed at neonatal screening: the index patient, his sister and his brother. Data at diagno...

Background: Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days) become positive at re-screening, and the utility of a long-term follow-up also in co-twin with negative test at screening and re-screening.Ob...