50 years of newborn screening for congenital hypothyroidism: evolution of insights in etiology, diagnosis and management

 

50 years of newborn screening for congenital hypothyroidism: evolution of insights in etiology, diagnosis and management Special Collection


European Thyroid Journal is pleased to announce a themed collection to mark the 50th anniversary of the establishment of the first newborn screening (NBS) programme for congenital hypothyroidism (CH) – the most frequent endocrine disease in infancy.

The collection of reviews will highlight the most recent perspectives and advances within the field of CH research, with comments from renowned experts on the latest findings in etiology, genetics, diagnosis and the management of CH. 

Newborn screening (NBS) for congenital hypothyroidism (CH) was first introduced in 1974 by measuring thyroxine (T4), and shortly thereafter by T4, followed by thyroid stimulating hormone (TSH) in newborn heel prick filter paper blood, a technique pioneered by Guthrie in 1963. Since then, NBS for CH has been successfully implemented in many countries and has proven to be one of the most cost-effective screening programmes.

This collection will review the initial development and subsequent evolution of NBS to detect primary and central CH in newborns, including different test-strategies (TSH only, T4 (or free T4) + TSH, or T4 reflex TSH), laboratory assays, and NBS in special populations, such as preterm and very-low-birth weight newborns. Furthermore, in the past decades research on the genetic and molecular background of primary and central CH has made remarkable progress, and this - along with possible environmental impact - will also be discussed.
 

Collection Editors

Dr. Paul van Trotsenburg

 Dr. Paul van Trotsenburg
Dr van Trotsenburg is a Dutch pediatric endocrinologist with a career in both clinical practice and academia. He has held several key positions, including Head of the Pediatric Endocrinology Department at the Amsterdam University Medical Center since 2010 and Professor of Pediatric Endocrinology since 2017. Dr van Trotsenburg’s current research focuses mainly on pediatric thyroid and congenital pituitary disorders. He has published extensively in peer-reviewed journals, contributing to advancing understanding and the management of congenital hypothyroidism. Some of his key publications include studies on genetic causes of primary and central CH, thyroid function in healthy neonates, machine learning applications in newborn screening for CH, and clinical guidelines for managing primary and central CH.

Dr. Antonella Olivieri

Dr. Antonella Olivieri
Dr Olivieri is Research Director at the Department of Cardiovascular, Endocrine-Metabolic Diseases and Aging at the Italian National Institute of Health and scientific coordinator of the Italian National Registry of Infants with Congenital Hypothyroidism-INRICH. She was a member of the steering committee of the ESPE guidelines on congenital hypothyroidism. Dr Olivieri is an active committee member of the national consensus project for harmonization of newborn screening procedures for congenital hypothyroidism. Her research interests include congenital hypothyroidism, iodine nutrition and thyroidal effects of environmental endocrine disruptors.
 

Dr Athanasia Stoupa

Dr Athanasia Stoupa
Dr Stoupa is a consultant pediatric endocrinologist, working at the Pediatric Endocrinology, Diabetology and Gynecology Department and Ile-de-France Regional Newborn Screening program in Necker Children’s University Hospital in Paris, France. Dr Stoupa is the Paediatric chair of ENDO-ERN MTG8/Thyroid group and an active committee member for national and international guidelines on congenital hypothyroidism and thyroid disorders in children. Her research interests are in fetal and neonatal thyroid physiology and pathology, and molecular elucidation of patients with congenital hypothyroidism and rare pediatric thyroid diseases.