Congenital Hypothyroidism: A 2020–2021 Consensus guidelines update—An ENDO-European reference network initiative endorsed by the European Society for …

P Van Trotsenburg, A Stoupa, J Léger, T Rohrer… - Thyroid, 2021 - liebertpub.com
Background: An ENDO-European Reference Network (ERN) initiative was launched that
was endorsed by the European Society for Pediatric Endocrinology and the European …

Screening for congenital hypothyroidism: a worldwide view of strategies

G Ford, SH LaFranchi - Best practice & research Clinical endocrinology & …, 2014 - Elsevier
Detection by newborn screening (NBS) and treatment of babies with congenital
hypothyroidism (CH) has largely eliminated the intellectual disability caused by this disorder …

Congenital hypothyroidism: screening and management

SR Rose, AJ Wassner, KA Wintergerst… - …, 2023 - publications.aap.org
Untreated congenital hypothyroidism (CH) leads to intellectual disabilities. Prompt diagnosis
by newborn screening (NBS) leading to early and adequate treatment results in grossly …

European Society for Paediatric Endocrinology consensus guidelines on screening, diagnosis, and management of congenital hypothyroidism

J Léger, A Olivieri, M Donaldson… - The Journal of …, 2014 - academic.oup.com
Objective: The aim was to formulate practice guidelines for the diagnosis and management
of congenital hypothyroidism (CH). Evidence: A systematic literature search was conducted …

Is the incidence of congenital hypothyroidism really increasing? A 20-year retrospective population-based study in Québec

J Deladoëy, J Ruel, Y Giguère… - The Journal of Clinical …, 2011 - academic.oup.com
Context: Congenital hypothyroidism (CH) is reportedly increasing in the United States,
possibly reflecting changes in screening methods. In Québec, the same initial TSH cutoff (15 …

Approach to the diagnosis and treatment of neonatal hypothyroidism

SH LaFranchi - The Journal of Clinical Endocrinology & …, 2011 - academic.oup.com
Abstract Congenital hypothyroidism, occurring in 1: 3000 newborns, is one of the most
common preventable causes of mental retardation. Neurodevelopmental outcome is …

Inborn errors of metabolism in the era of untargeted metabolomics and lipidomics

IT Ismail, MR Showalter, O Fiehn - Metabolites, 2019 - mdpi.com
Inborn errors of metabolism (IEMs) are a group of inherited diseases with variable
incidences. IEMs are caused by disrupting enzyme activities in specific metabolic pathways …

Diagnosis and management of central congenital hypothyroidism

P Lauffer, N Zwaveling-Soonawala, JC Naafs… - Frontiers in …, 2021 - frontiersin.org
Central congenital hypothyroidism (CH) is defined as thyroid hormone (TH) deficiency at
birth due to insufficient stimulation by the pituitary of the thyroid gland. The incidence of …

Congenital hypothyroidism: insights into pathogenesis and treatment

CE Cherella, AJ Wassner - International journal of pediatric endocrinology, 2017 - Springer
Congenital hypothyroidism occurs in approximately 1 in 2000 newborns and can have
devastating neurodevelopmental consequences if not detected and treated promptly. While …

Congenital hypothyroidism: recent advances

AJ Wassner, RS Brown - Current Opinion in Endocrinology …, 2015 - journals.lww.com
Although newborn screening has virtually eradicated mental retardation due to congenital
hypothyroidism in parts of the world, new information continues to accumulate and new …