ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: J Clin Endocrinol Metab. 2020 Mar 1;105(3):dgaa037.This study aimed to assess the frequency of natriuretic peptide receptor type B gene (NPR2 ) variants in 87 children with familial short stature (FSS) and evaluate their response to GH therapy. By applying whole-exome or custom-targeted NGS panel sequencing, NPR2 variants were found in 5 children (5.7%) belonging to 4 families. These variants were cla...

J Clin Endocrinol Metab. 2019 Feb. doi: 10.1210/jc.2018-02288. [Epub ahead of print]Short stature is the most common reason for referral to pediatric endocrinologists. Familial short stature (FSS) is used to describe a child with a stature below the normal but within the parental target range and with at least one short parent.In the last years, there has been a widesp...

Brief summary: This international multicentre study collected data from 104 290 children and adolescents (6 months-18 years-old), to compare prevalence of diabetic ketoacidosis (DKA) at diagnosis of type 1 diabetes (T1D) before and during the COVID-19 pandemic. Prevalence of DKA at T1D diagnosis increased from 27.3% pre-pandemic to 39.4% during the pandemic, and the increased trends were associated with the pandemic containment measures.DKA is a life-thr...