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 …

New genetics in congenital hypothyroidism

A Stoupa, D Kariyawasam, M Muzza, T de Filippis… - Endocrine, 2021 - Springer
Introduction Congenital hypothyroidism (CH) is the most frequent neonatal endocrine
disorder and one of the most common preventable forms of mental retardation worldwide …

Insights into non-classic and emerging causes of hypopituitarism

F Prodam, M Caputo, C Mele, P Marzullo… - Nature Reviews …, 2021 - nature.com
Hypopituitarism is defined as one or more partial or complete pituitary hormone deficiencies,
which are related to the anterior and/or posterior gland and can have an onset in childhood …

[HTML][HTML] Redefinition of Successful Treatment of Patients With Hypothyroidism. Is TSH the Best Biomarker of Euthyroidism?

SP Fitzgerald, H Falhammar - Frontiers in Endocrinology, 2022 - frontiersin.org
In recent years evidence has accumulated supporting a revised view of the nature of
euthyroidism and the biomarkers of thyroid function. Within the normal range, variations in …

Genetics of congenital hypothyroidism: Modern concepts

A Stoupa, D Kariyawasam, M Polak, A Carré - Pediatric Investigation, 2022 - mednexus.org
Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder and one
of the most common preventable causes of intellectual disability in the world. CH may be …

Approach to the patient with congenital hypothyroidism

A Stoupa, D Kariyawasam… - The Journal of …, 2022 - academic.oup.com
Congenital hypothyroidism (CH) is the most frequent neonatal endocrine disorder and the
most common preventable cause of development delay and growth failure if diagnosed and …

[HTML][HTML] Проект клинических рекомендаций по гипотиреозу

ВВ Фадеев, ТБ Моргунова… - Клиническая и …, 2021 - cyberleninka.ru
Гипотиреоз-одно из наиболее распространенных эндокринных заболеваний. Более
99% всех случаев гипотиреоза у взрослых приходится на первичный гипотиреоз …

Screening of 23 candidate genes by next-generation sequencing of patients with permanent congenital hypothyroidism: novel variants in TG, TSHR, DUOX2, FOXE1 …

S Acar, S Gürsoy, G Arslan, Ö Nalbantoğlu… - Journal of …, 2022 - Springer
Purpose To date, many genes have been associated with congenital hypothyroidism (CH).
Our aim was to identify the mutational spectrum of 23 causative genes in Turkish patients …

Thyroid hormone resistance: mechanisms and therapeutic development

B Yao, C Yang, C Pan, Y Li - Molecular and Cellular Endocrinology, 2022 - Elsevier
As an essential primary hormone, thyroid hormone (TH) is indispensable for human growth,
development and metabolism. Impairment of TH function in several aspects, including TH …

Reference intervals for thyroid function from the fifth to seventh day of life in twin-pregnancy preterm neonates: an 8-year retrospective study

XT Zheng, X Lin, M Ma, SH Lai, CY Yang - Hormones, 2024 - Springer
Purpose The immature and developing hypothalamic-pituitary-thyroid axis leads to different
levels of thyroid function in twin neonates, including free thyroxine (FT4), free …