Journal of Nepal Medical Association, 2022 Introduction: Congenital hypothyroidism is the most preventable and treatable cause of mental retardation in newborns and infants. Screening for congenital hypothyroidism in newborns and infants is not a routine practice in our part of the world.
Bijaya Mishra +7 more
doaj +1 more source
Information Registry System on Congenital Hypothyroidism: A Systematic Review
Journal of Pediatrics Review, 2021 Background: Congenital hypothyroidism is the most common congenital disorder of the endocrine system, leading to preventable mental retardation. Objectives: We aimed to evaluate the current status of congenital hypothyroidism information registry ...
Morteza Ghasempour +4 more
doaj +1 more source
The Pathogenic TSH β-Subunit Variant C105Vfs114X Causes a Modified Signaling Profile at TSHR [PDF]
, 2019 1) Background: Central congenital hypothyroidism (CCH) is a rare endocrine disorder that can be caused by mutations in the β-subunit of thyrotropin (TSHB).
Biebermann, Heike +6 more
core +1 more source
Intellectual and motor development of young adults with congenital hypothyroidism diagnosed by neonatal screening [PDF]
, 2006 Contains fulltext : 35756.pdf (publisher's version ) (Open Access)CONTEXT: Long-term follow-up data on cognitive and motor functioning in adult patients with congenital hypothyroidism, diagnosed by neonatal screening, are scarce. Hence,
Faber, I. +9 more
core +2 more sources
A new mutation in the promoter region of the PAX8 gene causes true congenital hypothyroidism with thyroid hypoplasia in a girl with Down's syndrome [PDF]
, 2014 <b>Background:</b> Thyroid dysfunction is common in newborn infants with Down's syndrome (DS), but defects causing classic thyroid dysgenesis (TD) with permanent congenital hypothyroidism (CH) have not been described.<p></p> ...
Donaldson, Malcolm +6 more
core +1 more source
Turner syndrome and associated problems in turkish children: A multicenter study [PDF]
, 2015 Objective: Turner syndrome (TS) is a chromosomal disorder caused by complete or partial X chromosome monosomy that manifests various clinical features depending on the karyotype and on the genetic background of affected girls.
Abacı, A. +73 more
core +1 more source
Journal of Clinical Endocrinology and Metabolism, 2020 PURPOSE Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, however, its molecular etiology remains poorly understood. METHODS We performed genetic analysis of 24 causative genes using next-generation sequencing in 167 CH ...
Takeshi Yamaguchi +6 more
semanticscholar +1 more source
Congenital hypothyroidism in pediatric practice
Медицинский совет, 2016 We present observation of two patients with congenital hypothyroidism. Importance of neonatal screening for congenital hypothyroidism is demonstrated.The main principles of diagnostics, therapy and dispensary supervision, role of pediatricians in ...
A. V. Vitebskaya, T. V. Igamberdieva
doaj +1 more source
The Importance of Examining Congenital Hypothyroidism in Connection with Congenital Heart Disease: Letter to Editor [PDF]
Iranian Journal of Neonatology, 2019 Dear Editor-in-Chief: I read and enjoyed your stylish article, "Frequency of Congenital Cardiac Malformations in Neonates with Congenital Hypothyroidism", in relation to heart disease with hypothyroidism.
Forod Salehi +2 more
doaj +1 more source
An Alport syndrome boy with Van Wyk-Grumbach syndrome induced by prolonged untreated congenital hypothyroidism [PDF]
Annals of Pediatric Endocrinology & Metabolism, 2020 Alport syndrome (AS) is a rare genetic disorder that causes progressive nephritis and is more common among males. Studies have reported an association between thyroid antibodies and hypothyroidism in patients with AS, but the relevance of this ...
Su-Jeong Lee +4 more
doaj +1 more source