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 …
was endorsed by the European Society for Pediatric Endocrinology and the European …
Diagnosis of endocrine disease: congenital hypothyroidism: update and perspectives
C Peters, ASP Van Trotsenburg… - European journal of …, 2018 - academic.oup.com
Congenital hypothyroidism (CH) may be primary, due to a defect affecting the thyroid gland
itself, or central, due to impaired thyroid-stimulating hormone (TSH)-mediated stimulation of …
itself, or central, due to impaired thyroid-stimulating hormone (TSH)-mediated stimulation of …
Congenital hypothyroidism: screening and management
Untreated congenital hypothyroidism (CH) leads to intellectual disabilities. Prompt diagnosis
by newborn screening (NBS) leading to early and adequate treatment results in grossly …
by newborn screening (NBS) leading to early and adequate treatment results in grossly …
Congenital hypopituitarism during the neonatal period: epidemiology, pathogenesis, therapeutic options, and outcome
L Bosch i Ara, H Katugampola, MT Dattani - Frontiers in pediatrics, 2021 - frontiersin.org
Introduction: Congenital hypopituitarism (CH) is characterized by a deficiency of one or more
pituitary hormones. The pituitary gland is a central regulator of growth, metabolism, and …
pituitary hormones. The pituitary gland is a central regulator of growth, metabolism, and …
Update on congenital hypothyroidism
CE Cherella, AJ Wassner - Current Opinion in Endocrinology …, 2020 - journals.lww.com
Prompt identification and adequate treatment of patients with congenital hypothyroidism is
critical to optimize outcomes. New information continues to accumulate about how to …
critical to optimize outcomes. New information continues to accumulate about how to …
Newborn screening and molecular profile of congenital hypothyroidism in a Chinese population
B Yu, W Long, Y Yang, Y Wang, L Jiang, Z Cai… - Frontiers in …, 2018 - frontiersin.org
To review the characteristics of newborn screening of congenital hypothyroidism (CH), we
reviewed the newborn screening data, including the levels of blood spot thyroid-stimulating …
reviewed the newborn screening data, including the levels of blood spot thyroid-stimulating …
Molecular defects in thyroid dysgenesis
Congenital hypothyroidism (CH) is a neonatal endocrine disorder that might occur as itself
or be associated to congenital extra‐thyroidal defects. About 85% of affected subjects …
or be associated to congenital extra‐thyroidal defects. About 85% of affected subjects …
Modeling human thyroid development by fetal tissue‐derived organoid culture
J Liang, J Qian, L Yang, X Chen, X Wang… - Advanced …, 2022 - Wiley Online Library
Euthyroidism is of profound importance for lifetime health. However, the early diagnosis or
therapeutics of thyroid developmental defects has not been established, mainly due to …
therapeutics of thyroid developmental defects has not been established, mainly due to …
Targeted next-generation sequencing of thirteen causative genes in Chinese patients with congenital hypothyroidism
W Long, G Lu, W Zhou, Y Yang, B Zhang, H Zhou… - Endocrine …, 2018 - jstage.jst.go.jp
To identify the spectrum and prevalence of thirteen causative genes mutations in congenital
hypothyroidism (CH) patients, we collected blood samples and extracted genomic DNA of …
hypothyroidism (CH) patients, we collected blood samples and extracted genomic DNA of …
Management of neonatal isolated and combined growth hormone deficiency: current status
S Stagi, M Tufano, N Chiti, M Cerutti, A Li Pomi… - International Journal of …, 2023 - mdpi.com
Congenital growth hormone deficiency (GHD) is a rare disease caused by disorders
affecting the morphogenesis and function of the pituitary gland. It is sometimes found in …
affecting the morphogenesis and function of the pituitary gland. It is sometimes found in …