ESPE Yearbook of Paediatric Endocrinology

Brief summary: In this large-scale, multicenter DNA sequencing study, probands (and families; n=13 449) with previously undiagnosed, severe, likely monogenic, complex developmental disorders from 24 centers in the UK and Irland were studied by whole exome sequencing and microarray analysis. Multimodal data analysis yielded a diagnosis in 41%, more likely with TRIO family analysis. Probands with a history of extreme prematurity, in utero exposure to antiepileptics and ...

To read the full abstract: N Engl J Med. 2019;380:1316–1325.This large multicenter randomized double-blind placebo-controlled trial, in euthyroid women with thyroid peroxidase antibodies and a history of miscarriage or infertility, found no effect of levothyroxine substitution from before conception to the end of pregnancy on likelihood of live birth.In 2011, ...