Results 101 to 110 of about 926,075 (161)

Evolution of thyroid function in preterm infants detected by screening for congenital hypothyroidism.

, 2014
OBJECTIVE: To determine the evolution of congenital hypothyroidism in preterms and the clinical features of permanent forms. STUDY DESIGN: We retrospectively evaluated 24 preterm children detected by newborn screening for congenital hypothyroidism:
Di Frenna M, Ghirardello S, Vigone MC, Corbetta C, Mosca F, Caiulo S, WEBER , GIOVANNA   +6 more
core   +2 more sources

Permanent congenital hypothyroidism with blood spot thyroid stimulating hormone <10 mU/L

, 2017
Background: The UK recommended lower threshold for neonatal blood spot thyroid stimulating hormone (TSH) screening for congenital hypothyroidism (CHT) is 10.0 mU/L. Some laboratories use lower thresholds.
Mason, Avril, Smith, Sarah, Dorrian, Catherine, Shaikh, M. Guftar, Jones, Jeremy H.   +4 more
core   +1 more source

MON-270 Diagnostic Exome Sequencing in Children with Permanent Congenital Hypothyroidism

Journal of the Endocrine Society, 2019
Introduction: Congenital hypothyroidism can be caused by aplasia or hypoplasia of the thyroid gland, ectopic thyroid, or dyshormonogenesis. Thyroid function test, thyroid ultrasonography, and thyroid scintigraphy may be helpful in diagnosis. Molecular genetic approach can be used to identify the genetic causes.
Kim, Jisun, Jang, Ja-Hyun, Yu, Jeesuk
openaire   +1 more source

Less known aspects of central hypothyroidism: Part 2 – Congenital etiologies [PDF]

, 2018
Central hypothyroidism (CH) occurs approximately in 1:50,000, and therefore is expected to be one thousand times rarer compared with primary hypothyroidism.
Klose, Marianne, Vita, Roberto, Ulla Feldt-Rasmussen, Benvenga, Salvatore, Roberto Vita, Feldt-Rasmussen, Ulla, Marianne Klose, Salvatore Benvenga, Feldt-Rasmussen U., Klose M., Vita R., Benvenga S.   +11 more
core   +1 more source

Mutation screening in the genes PAX-8, NKX2-5, TSH-R, HES-1 in cohort of 63 Brazilian children with thyroid dysgenesis

Archives of Endocrinology and Metabolism
Objective: To evaluate the candidate genes PAX-8, NKX2-5, TSH-R and HES-1 in 63 confirmed cases of thyroid dysgenesis. Subjects and methods: Characterization of patients with congenital hypothyroidism into specific subtypes of thyroid dysgenesis with ...
Taíse Lima de Oliveira Cerqueira, Yanne Rocha Ramos, Giorgia Bruna Strappa, Mariana Souza de Jesus, Jailciele Gonzaga Santos, Camila Sousa, Gildásio Carvalho, Vladimir Fernandes, Ney Boa-Sorte, Tatiana Amorim, Thiago Magalhães Silva, Ana Marice Teixeira Ladeia, Angelina Xavier Acosta, Helton Estrela Ramos   +13 more
doaj   +1 more source

Recent advances in understanding the molecular basis of primary congenital hypothyroidism.

, 2000
Primary congenital hypothyroidism is characterized by low levels of circulating thyroid hormones and raised levels of thyrotropin at birth. It can be either permanent or transitory.
Paolo E Macchia, MACCHIA, PAOLO EMIDIO
core   +1 more source

Prevalence of congenital hypothyroidism at Hospital Tengku Ampuan Afzan, Kuantan / Siti Alwati Deraman [PDF]

, 2014
The aim of the present study was to estimate the birth prevalence of congenital hypothyroidism and to identify the numbers of congenital hypothyroidism cases among 50-100 randomly patients at Hospital Tengku Ampuan Afzan, Kuantan.
Deraman, Siti Alwati
core  

Congenital Hypothyroidism

, 2018
Congenital hypothyroidism is an abnormality in the development of thyroid gland (dysgenesis or agenesis) and defect in the biosinthesis of thyroide hormones.
Pema, Ada, Ollomani, Elfrida Kote
core   +1 more source

Intelligence quotient in children with congenital hypothyroidism: The effect of diagnostic and treatment variables

Journal of Research in Medical Sciences, 2013
Background: Considering the high prevalence of congenital hypothyroidism (CH) in Isfahan, the intelligence quotient (IQ) of children with CH and the effect of diagnostic and treatment variables on it were investigated during the CH screening program ...
Seyed Badredin Najmi, Mahin Hashemipour, Mohammad Reza Maracy, Silva Hovsepian, Mahmood Ghasemi   +4 more
doaj  

Congenital hypothyroidism in two children affected by Sotos syndrome: a simple association?

Italian Journal of Pediatrics
Background Congenital hypothyroidism (CH) is the most common congenital endocrine disorder and one of the most preventable causes of intellectual disability. The underlying etiology of CH can be thyroid dysgenesis or dyshormonogenesis, and in rare cases,
Paolo Cavarzere, Stefania Munari, Marta Arrigoni, Vincenzo Raitano, Elena Fiorini, Alessandra Guzzo, Rossella Gaudino, Franco Antoniazzi   +7 more
doaj   +1 more source