ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Clin Endocrinol. 2019;91:110–117.Idiopathic short stature (ISS) refers to a heterogeneous population of children with a height more than 2 SDS below the mean for age, sex, and population, in presence of normal birth size and body proportions, and without evidence of any identifiable cause. The use of next generation sequencing (NGS) has shown that a high p...

J Clin Endocrinol Metab. 2020;105:dgaa415. doi: 10.1210/clinem/dgaa415.The optimal cut-off for neonatal screening has long been a matter of debate. The optimal balance between optimal detection of cases and increase of false positive patients is difficult to define. Also, in the most recent guidelines for congenital hypothyroidism (see previous paper in this chapter 3.7), no precise cut-off...